Diagnosis of Aicardi syndrome

Diagnostic Tests for Aicardi syndrome: Online Medical Books

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PUPIL ABNORMALITIES: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

1. Are both pupils dilated? The presence of dilated pupils in an otherwise normal subject would suggest drug intoxication such as phenobarbital, marijuana, and PCP. However, the patient may not know that he or she had a concussion recently. Also, glaucoma may cause dilatation of both pupils.
2. Are both pupils constricted? The presence of constricted pupils would suggest narcotic intoxication.
3. Is one pupil dilated? The presence of a dilated pupil should suggest oculomotor nerve palsy such as may be due to a ruptured aneurysm or intracranial hematoma. However, if the pupil reacts to light and accommodation, a local condition such as iritis, glaucoma, anisocoria, or irritation of the cervical sympathetic nerves must be considered. If the pupil reacts to accommodation but not to light, then central nervous system syphilis must be suspected. If there is no reaction to light or accommodation, blindness must be considered due to optic nerve lesions.
4. If one pupil is dilated, does it react to light and accommodation? This finding would suggest a local condition such as iritis, glaucoma, anisocoria, or irritation of the cervical sympathetic nerves.
5. Is one pupil constricted? The presence of a constricted pupil would suggest Horner's syndrome.
6. Is there ptosis? The presence of ptosis with a constricted pupil would suggest Horner's syndrome. If there is no ptosis with the constricted pupil, a brain stem lesion such as syringomyelia, tumor, abscess, or encephalitis must be considered.
7. Is there blindness? The presence of blindness with a dilated pupil would suggest optic nerve lesions.

DIAGNOSTIC WORKUP

Patients with bilateral dilated or constricted pupils should have a urine drug screen and possibly a blood test for alcohol level. If there is fever or a history of trauma with dilated or constricted pupils or other pupillary abnormalities, a neurologist or neurosurgeon should be consulted immediately before ordering expensive diagnostic tests.

Primary eye conditions can be excluded by tonometry, slit lamp examination, or ophthalmology consultation. Intracranial neoplasms and aneurysms must be excluded by CT scans, MRIs, and possibly angiography. A spinal tap will help diagnose central nervous system lues or multiple sclerosis. VEP studies will help diagnose multiple sclerosis. The workup for Horner's syndrome can be found on page 227 .

 

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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

RESPIRATION ABNORMALITIES: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

1. Is the respiration rapid? The presence of rapid respiration indicates dyspnea and may be caused by shock, congestive heart failure, asthma, emphysema, and other disorders.
2. Is the respiration slow? The presence of slow respiration should suggest diabetes mellitus, alcoholic stupor, uremia, opium poisoning, cerebral concussion, and metabolic acidosis from other causes.
3. Are the breaths irregular or alternating fast and slow? This would suggest Cheyne-Stokes respiration or Biot's breathing, and the causes to consider are coma, congestive heart failure, uremia, tuberculosis, bacterial meningitis, typhoid fever, chorea, and many other conditions.
4. Are the breaths deep or shallow? The presence of deep respiration should suggest metabolic acidosis due to diabetes mellitus, renal failure, alcoholic stupor, or respiratory alkalosis from salicylate intoxication. The presence of shallow respiration would suggest uremia, opium poisoning, and concussion.

DIAGNOSTIC WORKUP

The basic workup includes a CBC, sedimentation rate, urinalysis, chemistry panel, EKG, chest x-ray, urine drug screen, blood alcohol level, arterial blood gases, and pulmonary function tests. If there is fever, blood cultures, febrile agglutinins, and tuberculin and other skin tests may be ordered. If there is coma, further diagnostic workup may be found on page 84 . If there is dyspnea, further diagnostic workup may be found on page 131 .

 

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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

Seizures/Convulsions: Differential Diagnosis
(In a Page: Signs and Symptoms)

• Partial seizure (involve only part of the brain)
  –Simple (no altered consciousness)
  –Complex (with altered consciousness)
• Generalized seizure (involve both hemispheres)
  –Tonic-clonic
  –Atonic
  –Tonic
  –Myoclonic
  –Absence
• Epilepsy
  –Recurrent unprovoked seizures of any or multiple types, which may be idiopathic or symptomatic
  • Secondary seizure
    –Metabolic abnormalities (e.g., electrolyte disturbances, hypoglycemia)
    –Drug effects, intoxication, or withdrawal
    –Head injury/trauma
    –Febrile seizures in children
    –Structural lesions (e.g., tumor, subdural hematoma)
    –Cerebrovascular etiologies (e.g., cerebral infarct, intracerebral hemorrhage, subarachnoid hemorrhage
    –Hypoxic-ischemic encephalopathy
    –Infection (e.g., meningitis, encephalitis)
    –Hypoxia
  • Nonepileptic seizure
    –Not associated with abnormal electrical activity in the brain
    –Patients with loss of consciousness secondary to cerebral hypoperfusion (fainting, syncope) may occasionally exhibit brief periods of twitching or convulsive movements resembling seizure activity
    –Psychological disturbances (pseudoseizure)
  • Inborn errors of metabolism
    –Disorders of amino acid metabolism
    –Organic acidemias
    –Urea cycle disorders
    –Mitochondrial disorders
    –Peroxisomal disorders
    –Glycogen storage disorders
    –Disorders of sugar metabolism
  • Rasmussen's encephalitis
    –Causes seizures and progressive hemispheric dysfunction in infants

  Workup and Diagnosis

  • History and physical examination
    –In many instances, the most useful history is obtained from a witness of the seizure rather than the patient him- or herself, because seizures commonly cause altered consciousness and may result in postictal confusion
    –Appropriate classification of seizure type may help to suggest etiology and treatment (e.g., a partial seizure resulting in isolated clonic jerking of the right arm is suggestive of pathology in the left frontal lobe)
    –Evidence of postictal paralysis on examination may also help to suggest the part of the brain involved
  • Initial labs should include CBC, electrolytes, glucose, O₂ saturation, calcium, magnesium, glucose, and BUN/creatinine
  • CT is suitable for emergent evaluation, but MRI is more sensitive
  • CSF examination if CNS infection (e.g., meningitis) or subarachnoid hemorrhage is suspected
  • Drug screen and ethanol level
  • EEG
  • Video EEG monitoring may be useful in cases of refractory epilepsy as part of evaluation for epilepsy surgery or suspected nonepileptic seizures

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Source: In a Page: Signs and Symptoms, 2004

Seizures – Neonatal: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Hypoxic ishemic encephalopathy
• Bacterial meningitis/sepsis
• Stroke
• Cerebral dysgenesis
• Electrolyte disturbances
  –Hypoglycemia
  –Hyponatremia
  –Hypomagnesemia
  –Hypocalcemia
• Maternal drug use
  –Drug withdrawal after delivery
  –Direct effect of drugs, such as cocaine
• Congenital infections (TORCH)
  –Toxoplasmosis
  –Syphilis
  –Rubella
  –CMV
  –HSV
• HSV encephalitis
• Intracranial hemorrhage
  –Subdural hemorrhage
  –Intraparenchymal hemorrhage
  –Intraventricular hemorrhage in the premature infant
  –Subarachnoid hemorrhage
• Urea cycle disturbances
• Smith-Lemli-Opitz syndrome
• Nonketotic hyperglycinemia
• Pyridoxine deficiency
• Fructose dysmetabolism
• Amino acidurias
  –Maple syrup urine disease
  –Proprionic acidemia
• Molybdenum cofactor deficiency
• Mitochondrial encephalopathy
• Glucose transporter deficiency
• Benign etiologies
  –Benign idiopathic neonatal seizures (fifth day fits)
  –Benign familial neonatal seizures
• Movements commonly mistaken for seizures
  –Benign neonatal sleep myoclonus
  –Jitteriness (may be secondary to hypoglycemia, drug withdrawal, or idiopathic)
  –Gastroesophageal reflux (arching, writhing)
  –Breath-holding spell

Workup and Diagnosis

• History: Previous pregnancies, fetal movements, infections, blood pressure problems during pregnancy, maternal drug/medication use, family history, Apgar scores, nuchal cord, birth weight, feeding problems, association of the spells to feeding and sleep

• Physical exam
  –Deformities, dermatoglyphics, skin lesions, hepatosplenomegaly, funduscopic exam, corneal opacities
  –Mental status: Spontaneous level of activity of the infant; responsiveness to light, sound, and touch
  –Muscle tone: Passive manipulation of limbs
  –Primary neonatal reflexes (Moro, palmar grasp, tonic neck response) and muscle stretch reflexes

• Labs: Glucose, electrolytes, lactate, liver function tests, ammonia, TORCH titers, pyruvate, chromosomes, 17-hydroxycorticosteroid, serum amino acids, copper
• Neuroimaging: CT or MRI
• Lumbar puncture for meningitis and encephalitis, including HSV, glucose transporter deficiency, nonketotic hyperglycinemia
• EEG: Critical in making the diagnosis of seizures in the newborn; monitoring of the child during one of the spells is the best way to make the diagnosis of seizures
• If gastroesophageal reflux is suspected, pH/thermistor monitoring is helpful to document a temporal relation

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Source: In A Page: Pediatric Signs and Symptoms, 2007

Seizures – Childhood: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Febrile seizure
• Cerebral dysgenesis: Disorders of neuronal migration, heterotopias, lissencephaly
• Epilepsy syndromes
  –Childhood absence
  –Juvenile absence
  –Juvenile myoclonic epilepsy (JME)
  –Benign rolandic epilepsy (BRE)
• Meningitis/encephalitis (e.g., HSV)
• Cerebral abscess
• Postinfectious (e.g., ADEM)
• Hyponatremia
• Hypernatremia
• Hypocalcemia
• Hypoglycemia
• Toxins: Ingestions or sedative withdrawal
• Trauma
• Pyridoxine deficiency
• Neoplasm
• Degenerative
  –Alpers disease
  –Rett syndrome
  –Unterricht-Lundborg disease
  –Lafora disease
  –Neuronal ceroid lipofuscinosis
• Genetic
  –Angelman syndrome
  –Aicardi syndrome
• Metabolic
  –Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
  –Myoclonus epilepsy and ragged-red fibers syndrome (MERRF)
  –Sialidosis
  –Glucose transporter deficiency
  –Urea cycle defects
• Vascular: Stroke, hemorrhage, vasculitis
• Hashimoto encephalitis
• Seizure mimics
  –Breath-holding spells
  –Syncope, convulsive syncope
  –Gastroesophageal reflux
  –Cardiac arrhythmia
  –Movement disorder
  –Migraine
  –Benign paroxysmal vertigo
  –Parasomnia
  –Pseudo-seizure
  –Rage attack

Workup and Diagnosis

• History: Detailed description of the spell, loss of consciousness, eye deviation, time of onset, other suspicious spells (jerking, staring, day-dreaming), birth and developmental history, previous history of head trauma, encephalitis, febrile seizures, medications at home, recent infections
• Physical exam: Dysmorphic features, skin rash, retinal exam for cherry-red spot, macular degeneration, hepatosplenomegaly, meningismus
• Full neurologic examination: Postictal weakness can provide clues to the focus of seizures (Todd paralysis)
• Labs: Glucose, electrolytes, calcium, toxicology screen, ammonia, lactate, pyruvate, genetic testing for specific disorders (MECP2 mutation for Rett, FISH on chromosome 15 for Angelman)
• Lumbar puncture to rule out infection (including HSV PCR), glucose transporter deficiency
• EEG can help make the diagnosis of focal vs generalized epilepsy
  –Crucial for decisions of treatment choices
• MRI can help determine any structural abnormalities, including cerebral dysgenesis, abscess, neoplasm, temporal lobe sclerosis
• For other specific etiologies, one can follow up with skin biopsy, CSF amino acids, biotinidase level, TSH, anti-thyroglobulin antibodies, rheumatologic workup

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Source: In A Page: Pediatric Signs and Symptoms, 2007

DEPRESSION, ANXIETY, AND OTHER ABNORMAL PSYCHIC STATES: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

The association of other symptoms and signs is all important. A triiodothyronine (T3) level, total thyroxine (T4) level, and free thyroxine index (FT4), a urine for porphobilinogen, serum electrolytes, toxicology screen, lead level, 24-hour urine, 17-ketosteroid level, and 17-hydroxycorticosteroid level should be done on anyone suspected of having endogenous depression. (Possibly all depressed patients should get this screen.) Skull x-ray film, EEG, CT scan and even a spinal tap [to rule out multiple sclerosis (MS) and lues] may be worthwhile when other neurologic signs are present.

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Source: Differential Diagnosis in Primary Care, 2007

Seizures, complex partial: History
(Handbook of Signs & Symptoms (Third Edition))

If you witness a complex partial seizure, never attempt to restrain the patient. Instead, lead him gently to a safe area. (Exception: Don’t approach him if he’s angry or violent.) Calmly encourage him to sit down, and remain with him until he’s fully alert. After the seizure, ask him if he experienced an aura. Record all observations and findings.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Seizures, absence: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

If you suspect a patient is having an absence seizure, evaluate its occurrence and duration by reciting a series of numbers and then asking him to repeat them after the attack ends. If the patient has had an absence seizure, he can’t do this. Alternatively, if the seizures are occurring within minutes of each other, ask the patient to count for about 5 minutes. He’ll stop counting during a seizure and resume when it’s over. Look for accompanying automatisms. Find out if the family has noticed a change in behavior or deteriorating schoolwork.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Seizures, simple partial: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

Make sure to record the patient’s seizure activity in detail; your data may be critical in locating the lesion in the brain. Does the patient turn his head and eyes? If so, to what side? Where does movement first start? Does it spread? Because a partial seizure may become generalized, you’ll need to watch closely for loss of consciousness, bilateral tonicity and clonicity, cyanosis, tongue biting, and urinary incontinence. (See “Seizures, generalized tonic-clonic,” page 554.)

After the seizure, ask the patient to describe exactly what he remembers, if anything, about the seizure. Check the patient’s LOC, and test for residual deficits (such as weakness in the involved extremity) and sensory disturbances.

Then obtain a history. Ask the patient what happened before the seizure. Can he describe an aura or did he recognize its onset? If so, how — by a smell, a visual disturbance, or a sound or visceral phenomenon such as an unusual sensation in his stomach? How does this seizure compare with others he has had?

Also, explore fully any history — recent or remote — of head trauma. Check for a history of stroke or recent infection, especially with a fever, headache, or stiff neck.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Seizures, generalized tonic-clonic: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

If you didn’t witness the seizure, obtain a description from the patient’s companion. Ask when the seizure started and how long it lasted. Did the patient report unusual sensations before the seizure began? Did the seizure start in one area of the body and spread, or did it affect the entire body right away? Did the patient fall on a hard surface? Did his eyes or head turn? Did he turn blue? Did he lose bladder control? Did he have other seizures before recovering?

If the patient may have sustained a head injury, observe him closely for loss of consciousness, unequal or nonreactive pupils, and focal neurologic signs. Does he complain of a headache and muscle soreness? Is he increasingly difficult to arouse when you check on him at 20-minute intervals? Examine his arms, legs, and face (including tongue) for injury, residual paralysis, or limb weakness.

Next, obtain a history. Has the patient ever had generalized or focal seizures before? If so, do they occur frequently? Do other family members also have them? Is the patient receiving drug therapy? Is he compliant? Also, ask about sleep deprivation and emotional or physical stress at the time the seizure occurred.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Seizures, complex partial: History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))

If you witness a complex partial seizure, never attempt to restrain the patient. Instead, lead him gently to a safe area. (Exception: Don’t approach him if he’s angry or violent.) Calmly encourage him to sit down, and remain with him until he’s fully alert. After the seizure, ask him if he experienced an aura. Record all observations and findings.

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Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

Seizures, absence: History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))

If you suspect a patient is having an absence seizure, evaluate its occurrence and duration by reciting a series of numbers and then asking him to repeat them after the attack ends. If the patient has had an absence seizure, he’ll be unable to do this. Alternatively, if the seizures are occurring within minutes of each other, ask the patient to count for about 5 minutes. He’ll stop counting during a seizure and resume when it’s over. Look for accompanying automatisms. Find out if the family has noticed a change in behavior or deteriorating schoolwork.

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Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

Seizures, simple partial: History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))

Be sure to record the patient’s seizure activity in detail; your data may be critical in locating the lesion in the brain. Does the patient turn his head and eyes? If so, to what side? Where does movement first start? Does it spread? Because a partial seizure may become generalized, you’ll need to watch closely for loss of consciousness, bilateral tonicity and clonicity, cyanosis, tongue biting, and urinary incontinence. (See “Seizures, generalized tonic-clonic,” page 708.)

After the seizure, ask the patient to describe exactly what he remembers, if anything, about the seizure. Check the patient’s LOC, and test for residual deficits (such as weakness in the involved extremity) and sensory disturbances.

Then obtain a history. Ask the patient what happened before the seizure. Can he describe an aura or did he recognize its onset? If so, how—by a smell, a visual disturbance, or a sound or visceral phenomenon, such as an unusual sensation in his stomach? How does this seizure compare with others he has had?

Explore fully any history, recent or remote, of head trauma. Check for a history of stroke or recent infection, especially with fever, headache, or a stiff neck.

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Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

Seizures, generalized tonic-clonic: History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))

If you didn’t witness the seizure, obtain a description from the patient’s companion. Ask when the seizure started and how long it lasted. Did the patient report any unusual sensations before the seizure began? Did the seizure start in one area of the body and spread, or did it affect the entire body right away? Did the patient fall on a hard surface? Did his eyes or head turn? Did he turn blue? Did he lose bladder control? Did he have any other seizures before recovering?

If the patient may have sustained a head injury, observe him closely for loss of consciousness, unequal or nonreactive pupils, and focal neurologic signs. Does he complain of headache and muscle soreness? Is he increasingly difficult to arouse when you check on him at 20-minute intervals? Examine his arms, legs, and face (including tongue) for injury, residual paralysis, or limb weakness.

Next, obtain a history. Has the patient ever had generalized or focal seizures before? If so, do they occur frequently? Do other family members also have them? Is the patient receiving drug therapy? Is he compliant? Ask about sleep deprivation and emotional or physical stress at the time the seizure occurred.

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Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

Seizures: History.
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)

Seizures can be confused with migraines and syncope.

A. Characteristics of the seizure

1. What was witnessed? Does the patient fall? Is there urinary or fecal incontinence, tongue biting, or loss of consciousness? Is there a postictal period? Is there staring, lip smacking, or automatisms? Seizure activity in neonates may present with subtle activities such as apnea, tremors, grimacing, or spasms.

 2. What can the patient remember? Are there associated sensations (odors, lights, emotions, tactile input)? Is there an aura?

 3. At what age was seizure onset? What is the frequency of the spells?

4. What is the setting? Is there evidence supporting anoxia or hypoxia? Was there a sudden rise in temperature (4)? Did the seizure follow flashing lights, exercise, sleeplessness, fasting, or menses?

5. Red flags include adult age at onset, changing pattern, and regression of motor skills.

 B. Chronology of the seizure. Most seizures present a characteristic pattern. A pattern of change or worsening of seizures can indicate new causation.

 C. Family history. Febrile, myoclonic, primary idiopathic seizures, and genetic syndromes with seizures often present a familial pattern.

 D. Psychosocial aspects. Ask how the family, teachers, employers interact with the patient.

 E. Other information. Important data include use of alcohol or drugs, medications that lower seizure threshold, toxic occupational or recreational chemicals, and severe physical [previous head trauma, central nervous system (CNS) infection, chronic illness] or psychosocial stressors.

Physical examination (PE)

A. Focused neurologic examination. Examine level of consciousness, pupils, fundi, cranial nerves, reflexes, gait, muscle strength, general sensory, coordination, and Romberg’s sign (4). Look for abnormal motor activity and test for abnormal reflexes.

B. Additional PE

 1. Look for signs of systemic illness: cardiac disease (cyanosis, pallor, irregular rhythm, cool extremities) and chronic alcoholism (ascites, jaundice, caput medusae, and bruising).

 2. Look for residual signs of trauma or limb asymmetry.

3. Look for dysmorphic manifestations of heritable disease: vascular malformations (Sturge–Weber), adenoma sebaceum (tuberous sclerosis), or café au lait spots and subcutaneous nodules (neurofibromatosis).

4. Gingival hypertrophy suggests phenytoin therapy.

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Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000

Pap Smear Abnormality: History
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)

 Gynecologic history, which is essential in determining a patient’s risk, should be shared with the cytopathologist. Risk factors include early age at first intercourse or pregnancy, immunosuppression of any cause, human immunodeficiency virus infection, human papilloma virus (HPV), smoking, multiple sexual partners, and a history of lower genital tract neoplasia (5).

Physical examination

The cervix usually appears normal to the naked eye. Gross cervical abnormalities should prompt further evaluation. When present, discharge should be gently removed prior to the pap smear. Tests for sexually transmitted diseases, when indicated, should be obtained after the pap smear. If the cervix appears normal, vaginitis can be treated and the smear obtained after resolution of the discharge (5).

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Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000

Seizures: Differential Overview

(Field Guide to Bedside Diagnosis)

❑ Generalized (grand mal)

❑ Partial (focal)

❑ Complex partial (temporal lobe)

❑ Absence (petit mal)

❑ Vasovagal syncope

❑ Myoclonic

❑ Akinetic (drop attacks)

❑ Psychomotor

❑ Pseudoseizures

Diagnostic Approach

When the patient is found unresponsive, the differential is seizure versus syncope. Interviewing witnesses is crucial to ascertain the diagnosis. Seizures can be distinguished by color (cyanosis in seizure, pallor in syncope), aura, injury from falling, protracted tonic-clonic activity, tongue biting, urinary incontinence, and slow recovery of consciousness (seizure). Confusion, headache, and drowsiness are sequelae of seizure, whereas physical weakness and a clear sensorium occur with syncope. Seizures often have a promontory aura, such as an odor, and syncope has a prodrome of tunnel vision. Seizures are followed by eye closure, rotation of the head side-to-side, and prolonged, motionless unresponsiveness.

General precipitating factors include sleep deprivation, systemic disease such as renal failure, metabolic/electrolyte disorder such as hypoglycemia or hyponatremia, alcohol use, or drug use. Elicit a history of febrile seizures or prior head trauma. Common causes of recurrent seizures in previously controlled patients include alcohol use, intercurrent infection, and missed medication doses.

A neurological examination will indicate whether there is an underlying structural problem as evidenced by mild hemiparesis, reflex asymmetry, or extensor plantar response. Seizures are more common in slowly growing cerebral lesions, such as low-grade glioma or meningioma.

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Source: Field Guide to Bedside Diagnosis, 2007

Seizures, generalized tonic-clonic: History
(Alarming Signs and Symptoms: Lippincott Manual of Nursing Practice Series)

Obtain the patient’s medical history. Has he had generalized or focal seizures before? If so, how frequently? Do other family members have seizures? Is the patient receiving drug therapy? Is he compliant? Ask about sleep deprivation and emotional or physical stress at the time the seizure occurred. Ask about the use of alcohol or illicit drugs.

If you didn’t witness the seizure, obtain a description from the patient’s family. Ask when it started and how long it lasted. Did the patient report unusual sensations before the seizure began? Did the seizure start in one area of the body and spread, or did it affect the entire body immediately? Did the patient fall on a hard surface? Did his eyes or head turn? Did he turn blue? Did he lose bladder control? Did he have other seizures before recovering? Does he complain of headache and muscle soreness?

Physical examination

If the patient may have sustained a head injury, perform a complete neurologic examination, observing closely for loss of consciousness, unequal or nonreactive pupils, and focal neurologic signs. Assess his vital signs. Is he increasingly difficult to arouse when you check on him at 20-minute intervals? Examine his arms, legs, and face (including tongue) for injury, residual paralysis, or limb weakness.

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Source: Alarming Signs and Symptoms: Lippincott Manual of Nursing Practice Series, 2007

Seizures, complex partial: History
(Signs & Symptoms: A 2-in-1 Reference for Nurses)

If you witness a complex partial seizure, never attempt to restrain the patient. Instead, lead him gently to a safe area. (Exception: Don’t approach him if he’s angry or violent.) Calmly encourage him to sit down, and remain with him until he’s fully alert. After the seizure, ask him if he experienced an aura. Record all observations and findings.

» READ BOOK EXCERPT ONLINE »

Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007

Seizures, simple partial: History
(Signs & Symptoms: A 2-in-1 Reference for Nurses)

Record the patient’s seizure activity in detail; your data may be critical in locating the lesion in the brain. Does the patient turn his head and eyes? If so, to what side? Where does movement first start? Does it spread? Because a partial seizure may become generalized, you’ll need to watch closely for loss of consciousness, bilateral tonicity and clonicity, cyanosis, tongue biting, and urinary incontinence. (See “Seizures, generalized tonic-clonic,” page 598.)

After the seizure, ask the patient to describe exactly what he remembers, if anything, about the seizure. Then obtain a history. Ask the patient what happened before the seizure. Can he describe an aura or did he recognize its onset? If so, how — by a smell, a visual disturbance, or a sound or visceral phenomenon, such as an unusual sensation in his stomach? How does this seizure compare with others he has had?

Also, explore fully any history, recent or remote, of head trauma. Check for a history of stroke or recent infection, especially with fever, headache, or a stiff neck.

» READ BOOK EXCERPT ONLINE »

Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007

Seizures, generalized tonic-clonic: History
(Signs & Symptoms: A 2-in-1 Reference for Nurses)

If you didn’t witness the seizure, obtain a description from the patient’s companion. Ask when the seizure started and how long it lasted. Did the patient report any unusual sensations before the seizure began? Did the seizure start in one area of the body and spread, or did it affect the entire body right away? Did the patient fall on a hard surface? Did his eyes or head turn? Did he turn blue? Did he lose bladder control? Did he have any other seizures before recovering? Does he complain of headache and muscle soreness? Is he increasingly difficult to arouse when you check on him at 20-minute intervals?

Next, obtain a history. Has the patient ever had generalized or focal seizures before? If so, do they occur frequently? Do other family members also have them? Is the patient receiving drug therapy? Is he compliant? Also, ask about sleep deprivation and emotional or physical stress at the time the seizure occurred.

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Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007

Seizures: Clinical Features and Diagnosis
(The Diagnostic Approach to Symptoms and Signs in Pediatrics)

Febrile Seizures

Can be definedas a seizure occurring in child <6 yrs of age associatedwith a temperature >38°C without evidence of intracranialinfection or acute systemic metabolic disorder. These seizures areuncommon before 6 mos of age.

Can be categorized as simple or complex.Most febrile seizures are simple and consist of single, brief, generalizedseizures with tonic-clonic or clonic movements lasting several minutes,although they can last as long as 15 mins. If they occur in a series,duration is <30 mins. Complex febrile seizures last >15mins, can occur in a prolonged series for several hours, and maybe focal.

Common clinical dilemma, especiallyin infants, is whether febrile seizure could indicate presence ofmeningitis or encephalitis. Lumbar puncture should be performedif these infections are suspected. This is especially importantin infants <18 mos of age, when physical exam is not asreliable as in older children.

Hypoxic-Ischemic Encephalopathy

Most commoncause of neonatal seizures is hypoxic-ischemic encephalopathy.

In most cases asphyxia occurs beforeor during delivery. History of toxemia, abruptio placenta, cordprolapse, fetal bradycardia, meconium staining, or prolonged failureto establish spontaneous respiration can be presumptive evidenceof intrauterine hypoxia.

In infants and children, hypoxic-ischemicencephalopathy may occur from suffocation, near drowning, shock,and cardiorespiratory arrest from any cause.

Brain Disorders

Cerebral Malformations

Seizures may arise from malformations ofthe brain. Some examples are polymicrogyria, holoprosencephaly,and cortical heterotopias. MRI is diagnostic.

Intracranial Infection

Infections (e.g., bacterial meningitis, encephalitis,and brain abscess) may be associated with seizures. See Chap. 3, Alteration in Consciousness.

Intracranial Hemorrhage

Hypoxiais major factor in development of intraventricular hemorrhage inpreterm infants, whereas subarachnoid hemorrhage usually occursas result of difficult labor or delivery in near-term infants.

In infants and children, head traumais most common cause of intracranial hemorrhage.

Head U/S, CT, and MRI areuseful in localizing and defining extent of hemorrhage. Study performeddepends on age of child and clinical circumstances. ≥1 modalitymay be necessary.

Other

Brain tumors, cerebrovascular disorders,neurocutaneous disorders, and neurodegenerative diseases also maycause seizures. See Chap. 3,Alteration in Consciousness; Chap. 13, Developmental Delay;and Chap. 25, Headache.

Hypertensive Encephalopathy

Severe generalizedheadache and visual disturbances (e.g., blurring of vision) maybe symptoms of severe hypertension.

Seizures also may occur; however, itis impossible to predict at what BP level seizures will occur.

BP should be measured in every individualwho has a seizure (see Chap.32, Hypertension).

Drugs and Toxins

Ingestionof the following substances may produce seizures: theophylline,phenothiazines, tricyclic antidepressants, camphor, glutethimide,benzene, acetylsalicylic acid, morphine, codeine, cocaine, heroin,amphetamines, and lead.

History and physical exam may be diagnostic.

Urine or serum level of implicateddrug, chemical, or heavy metal confirms diagnosis.

Metabolic Disorders

Hypoglycemia

Can be definedas blood glucose concentration of <40 mg/dL afterinitial 2–3 hrs of life.

Clinical manifestations of hypoglycemiain the neonate include jitteriness, tremors, lethargy, poor feeding,apnea, seizures, and alteration of consciousness. In infancy andchildhood, clinical findings include anxiety, hunger, headache,vomiting, sweating, fatigue, lassitude, seizures, and alterationof consciousness.

Principal Causes of Hypoglycemia

1. Transientneonatal hypoglycemia
   1. Associated with decreased substrate or enzymefunction
   2. Associated with hyperinsulinemia
2. Persistent hypoglycemia in infants,children, or adolescents
   1. Hyperinsulinemia
   2. Hormone deficiency
   3. Ketotic hypoglycemia
   4. Drugs or toxins
      1. Insulin
      2. Salicylates
      3. Propranolol
      4. Alcohol
      5. Oral hypoglycemic agents
   5. Hepatic disease
      1. Hepatitis
      2. Cirrhosis
      3. Reye syndrome
3. Metabolic disorders
   1. Glycogenstorage diseases (types O, I, III,VI)
   2. Disorders of gluconeogenesis
   3. Galactosemia
   4. Hereditary fructose intolerance
   5. Maple syrup urine disease
   6. Tyrosinemia
   7. Propionic acidemia
   8. Methylmalonic acidemia
   9. Medium-chain acyl-CoA dehydrogenasedeficiency
4. Systemic disorders
   1. Septicemia
   2. Malnutrition
   3. Malabsorption
   4. Burns
   5. Shock

Transient Neonatal Hypoglycemia

Transienthypoglycemia may occur in neonates because of inadequate substrate(liver glycogen, muscle protein, body fat) or lack of fully developedenzyme systems to sustain glucose production.

Most common in infants who are premature,small for gestational age, or the smaller of twins, but it alsocan occur in infants born to toxemic mothers and infants who experiencesevere respiratory distress.

Maternal diabetes mellitus and perinatalasphyxia are most common causes of transient neonatal hyperinsulinemia.

Resolution of hypoglycemia usuallyoccurs in 2–3 days with milk feedings or infusion of intravenousglucose.

Persistent Hypoglycemia in Infants, Children, or Adolescents

Hyperinsulinemia

Most commoncause of persistent hypoglycemia in infancy is hyperinsulinism,which can occur from birth to 18 mos of age.

It should be suspected in a macrosomicinfant with severe nonketotic hypoglycemia who requires glucoseinfusion of >10–15 mg/kg/minto maintain normal serum glucose concentration. When blood glucoseconcentration is <40 mg/dL, inappropriate increasein serum insulin (>10 μU/mL) is considereddiagnostic.

Once presence of hyperinsulinemia hasbeen established through spontaneous or fasting-induced hypoglycemia,specific cause should be investigated by clinical, biochemical,and molecular genetic means.

Causes include genetic defects of beta-cellregulation and focal lesions (islet cell adenoma, focal islet cellhyperplasia).

Hormonal Deficiency

Causes ofhypoglycemia associated with endocrine deficiency include adrenalinsufficiency with or without growth hormone deficiency.

When hypoglycemia is discovered, bloodsample should be drawn for possible cortisol, growth hormone, thyroidhormone (thyroxine), thyroid-stimulating hormone, insulin, and adrenocorticotropichormone measurements. These tests should be performed if other clinicalsigns suggest hormonal deficiency or if no other cause can be foundfor hypoglycemia.

Ketotic Hypoglycemia

Hypoglycemiaassociated with ketonuria may occur in children 18 mos–5yrs of age as response to prolonged fast.

At time of hypoglycemia, serum insulinconcentration is appropriately low (≥5–10 μU/mL),which excludes hyperinsulinism.

Prolonged fast of 12–18 hrsusually reproduces hypoglycemia in susceptible individuals.

Drugs or Toxins

Insulinin excessive dosage may cause severe hypoglycemia. So may salicylateintoxication, which increases insulin secretion and may possiblyinterfere with gluconeogenesis.

Propranolol, a beta-adrenergic blockingagent, may cause hypoglycemia in children who have decreased oralintake from prolonged fasting or illness.

Because ethyl alcohol impairs gluconeogenesis,hypoglycemia may occur 6–8 hrs after acute alcohol ingestionor as early as 1 hr after ingestion in a young child, especiallyif the child has not been fed for several hours. In this circumstance,a blood alcohol level confirms diagnosis.

Hepatic Disease

Hepatitis, cirrhosis, and Reye syndrome alsomay be associated with hypoglycemia. See Chap. 3, Alteration in Consciousness; Chap. 30, Hepatomegaly;and Chap. 36, Jaundice.

Metabolic Disorders

Glycogen Storage Diseases (Types O, I, III, VI)

Glycogenstorage disease type 0 is autosomal-recessive disorder caused bydeficiency in enzyme activity of hepatic glycogen synthetase.

Gene locus has been mapped to chromosome12p12.2.

Hypoglycemia and seizures occur withfasting. Serum insulin concentration is appropriately low.

Liver biopsy with enzyme assay confirmsdiagnosis.

Hypoglycemia and hepatomegaly may occurwith glycogen storage diseases types I, III, and VI (see Chap. 30, Hepatomegaly).

Disorders of Gluconeogenesis

Fructose 1,6-Diphosphatase Deficiency

Resultsin hypoglycemia only during caloric restriction (e.g., with intercurrentillness or in fasting state).

Gene locus of this autosomal-recessivedisorder has been mapped to chromosome 9q22.2-q22.3.

Characteristic features include hepatomegaly,failure to thrive, ketonuria, and lactic acidosis.

Liver biopsy with enzyme assay is diagnostic.

Phosphoenolpyruvate Carboxykinase Deficiency

Severe fastinghypoglycemia, which may occur during first day of life, can occurwith this enzyme deficiency.

Diagnosis is made by enzyme assay fromliver biopsy.

Other

Galactosemia, hereditary fructose intolerance,maple syrup urine disease, tyrosinemia, propionic acidemia, methylmalonicacidemia, and fatty acid oxidation disorders (especially medium-chainacyl-CoA dehydrogenase deficiency) are discussed in Chap. 3, Alteration in Consciousness,and Chap. 36, Jaundice.

Systemic Disorders

Septicemia, malnutrition, malabsorption,burns, and shock also may be associated with hypoglycemia.

Hypocalcemia

May be definedas total serum calcium concentration of <7 mg/dLin preterm infants and <8 mg/dL in infants andchildren. Ionized calcium concentration of <3 mg/dLis also abnormal.

Clinical features include poor feeding,tremulousness, lethargy, vomiting, cramps, abdominal distension,seizures, apnea, and tetany (in non-neonates).

Suspicion of hypocalcemia should beconfirmed with measurement of total and ionized serum calcium. Agentsthat complex calcium in blood (e.g., citrate and long-chain freefatty acids) can reduce serum ionized calcium without a decreasein serum calcium.

In neonatal period, hypocalcemia mayoccur during first 1–2 days of life (early) or toward endof first week of life (late). Early form can occur in very-low-birth-weightinfants, infants with perinatal asphyxia, and infants of diabeticmothers. Hypoparathyroidism and maternal hyperparathyroidism areother causes of early hypocalcemia.

Late occurrence of hypocalcemia maybe due to intake of high-phosphate milk, decreased calcium intestinalabsorption, hypoparathyroidism, and hypomagnesemia. Failure of hypocalcemiato respond to intravenous calcium should suggest coexisting hypomagnesemia.

Principal causes of hypocalcemia ininfants and children include decreased intake (nutritional), diminishedintestinal absorption of calcium, excessive calcium excretion (hypercalciuria),chronic renal failure, drugs (furosemide), excessive use of sodiumphosphate enemas, hypoparathyroidism, and vitamin D deficiency.The latter 2 disorders are discussed in the next section.

Hypoparathyroidism

Causes includefamilial hypoparathyroidism, DiGeorge syndrome, postsurgical hypoparathyroidism,autoimmune disease, resistance to parathyroid hormone, and idiopathic.

Diagnosis is confirmed by low serumcalcium, high serum phosphorous, and low serum parathyroid hormoneconcentrations. Specific cause needs to be investigated.

Vitamin D Deficiency

Deficiencyof vitamin D intake or defect in its metabolism may lead to hypocalcemia. Resultof these disturbances is rickets, which involves failure of bonemineralization. Most infantile rickets occurs in exclusively breast-fedterm babies who are not exposed to the sun.

Other causes of rickets include

Vitamin Dmalabsorption

Defective vitamin D synthesis (acquired25-hydroxylase deficiency from liver disease)

Congenital l-alpha-hydroxylase deficiency(also called vitamin D–dependent rickets)

Acquired l-alpha-hydroxylase deficiency(chronic renal failure)

Altered vitamin D metabolism from anticonvulsanttherapy (phenobarbital, phenytoin)

Hypophosphatemia (familial vitaminD–resistant rickets)

Dietary phosphate deficiency

Multiple renal tubular defects (Fanconisyndrome)

Clinical manifestations of ricketsdepend on age of child and degree of mineral depletion. Mild involvementmay only cause biochemical changes, whereas more severe involvementusually produces some of the following physical findings: frontalbossing, craniotabes, delayed closure of the fontanelles and sutures,enlarged costochondral junctions, enlarged wrists and ankles, bilateralbowing of the legs, lumbar lordosis, and diminished growth.

Radiographic changes include cuppingand fraying of metaphyses of rapidly growing bone, decreased densityof shafts of long bones, and pathologic fractures.

Lab findings in rickets include normalor low serum calcium, low serum phosphorus (except with renal osteodystrophy),and high serum alkaline phosphatase.

Specific cause must be investigated.

Hypomagnesemia

Occurs whenserum magnesium concentration is <1.5 mg/dL.

Clinical signs include tremors, nystagmus,seizures, and muscle weakness (chronic).

Causes of neonatal magnesium deficiencyinclude

Decreasedmagnesium intake (maternal magnesium deficiency, small-for-gestational ageinfants)

Diminished intestinal absorption (extensivesmall intestine resection)

Increased magnesium losses (chronicdiarrhea, extrahepatic biliary atresia, neonatal hepatitis, decreasedrenal tubular reabsorption)

Drugs (aminoglycosides, diuretics)

Maternal hyperparathyroidism

Increased phosphate intake

In infants and children, causes include

Chronic diarrhea

Intestinal malabsorption

Chronic renal disease, drugs (aminoglycosides,diuretics, cisplatin, cyclosporine)

Diabetes mellitus

Hyponatremia

Definedas serum sodium concentration of <130 mEq/L.

In low-birth-weight infants, diureticsgiven for chronic lung disease is common cause.

Other causes in neonates include excessivehypotonic replacement of fluid losses, hypovolemia with loss ofsodium in excess of water, and inappropriate secretion of antidiuretichormone. The latter may occur with hypoxic-ischemic encephalopathy,intracranial hemorrhage, and bacterial meningitis.

Frequent cause in young infants isfeeding of large amounts of water without any electrolyte. Anothercause is persistent diarrhea with loss of sodium in excess of water.

Hypernatremia

Definedas serum sodium >150 mEq/L.

In low-birth-weight infants, hypernatremiais usually due to severe insensible water loss or treatment of metabolicacidosis with large amounts of sodium bicarbonate.

Main causes in infancy and childhoodinclude diarrhea with water losses out of proportion to sodium losses,extensive burns, diabetes insipidus, and chronic renal disease.

Uremia

Various factors may cause seizures in childrenwith uremia, including uremia itself, hypocalcemia, hyponatremia,and hypertension.

Bilirubin Encephalopathy (Kernicterus)

Infants with kernicterus often have high-pitchedcry, poor feeding, decreased movements, opisthotonus, and seizures.Survivors usually have deafness, choreoathetosis, spasticity, andpsychomotor retardation (see Chap.3, Alteration in Consciousness).

Pyridoxine Dependency

Pyridoxine(vitamin B₆) dependency, a rare cause ofintractable neonatal seizures, usually presents in neonatal period,often during first day of life. Biochemical defect is unknown.

Seizures can be of any type. If noimmediate cause of neonatal seizures can be found and if they failto respond to usual therapy, trial of intravenous pyridoxine maybe given.

Cessation of seizures under EEG monitoringis best way to confirm diagnosis.

Inborn Errors of Metabolism

These disorders include galactosemia, hereditaryfructose intolerance, glycogen storage diseases, disorders of gluconeogenesis,and organic acidemias (maple syrup urine disease, disorders of fattyacid oxidation). They are mentioned in the section Hypoglycemia and discussedin Chap. 3, Alteration in Consciousness,and Chap. 13, Developmental Delay.

Selected Epileptic Syndromes

In addition to conditions discussed below,childhood absence epilepsy causes seizures. There are also unknowncauses.

Neonatal Seizures

Manifestationsof seizures in neonates may be different from those in infants andchildren. Neonatal seizures are often subtle and change from momentto moment. They rarely occur as isolated events but usually occurrepeatedly over a few hours or days. Generalized tonic-clonic seizuresrarely if ever occur in neonates. Main seizure types in neonatesare subtle (associated motor automatisms), clonic (focal or multifocal),tonic (focal or generalized), and myoclonic (focal, multifocal,generalized).

Mostcommon type of neonatal seizure is subtle, which may involve eyechanges (conjugate eye deviation, eye fluttering, blinking), mouthmovements (chewing, sucking, drooling, tongue thrusting), autonomicchanges (tachycardia, BP changes, pupillary dilatation), or apnea.Usually unassociated with ictal EEG changes, except when tonic eyedeviation occurs.

Clonic seizures involve rhythmic jerkingof 1 part of body that may be focal or multifocal. Focal seizurein neonates does not necessarily signify focal brain pathology.Can occur with generalized metabolic disturbance (e.g., hypoglycemia).Ictal EEG usually shows rhythmic discharges.

Tonic seizures involve extension oflimbs and are usually generalized. Seen most commonly with severebrain injury (hypoxic-ischemic encephalopathy, intracranial hemorrhage)and is usually not accompanied by ictal EEG changes.

Myoclonic seizures are characterizedby rapid isolated jerks of entire body or body parts. Usually signifiessevere brain injury (e.g., hypoxic-ischemic encephalopathy). Mayevolve into infantile spasms. Generalized myoclonic seizures areusually associated with abnormal ictal EEG, whereas it is unusualto see ictal changes with focal or multifocal myoclonic seizures.

Benign Neonatal Epilepsy

Benign formof neonatal seizures has been described in some families. Genetictransmission is autosomal-dominant and 2 genetic loci have beenmapped.

Seizures are often mixed, with tonicand clonic movements and motor automatisms.

Neurologic exam is normal.

Spontaneous remission usually occursafter several months.

Infantile Spasms (West Syndrome)

Infantilespasms, a form of generalized epilepsy, usually begin at 4–8mos of age.

The flexor spasm (salaam or jackknifeattacks) with sudden flexion of head, neck, and trunk, lasts a fewseconds and tends to occur in repetitive series of attacks, whichmay number up to several hundred episodes in 1 day.

Usual EEG finding is hypsarrhythmiapattern, which consists of high-voltage, irregular slow waves withspike-and-wave complexes.

Hypoxic-ischemic encephalopathy, perinatalinfections, cerebral dysgenesis, and various genetic (tuberous sclerosis)and metabolic disorders (phenylketonuria) are common causes of thistype of epilepsy.

Lennox-Gastaut Syndrome

Characterizedby seizures, developmental delay, and characteristic EEG pattern.It is not a pathologic entity, but rather diffuse encephalopathywith many causes (e.g., perinatal asphyxia, cerebral malformation,head trauma, CNS infection, metabolic disorders, and neurodegenerativediseases).

Seizures usually begin in children <3yrs of age and are difficult to control.

More than 1 seizure type may occur,and most common types are tonic-clonic, tonic, and myoclonic.

EEG usually shows bilateral, generalized,synchronous sharp and slow-wave discharges.

Benign Focal Epilepsy with Centrotemporal Spikes

Most commonsyndrome of simple partial epilepsy in childhood. Onset is usually2–14 yrs of age, with peak at 9–10 yrs.

Seizures are primarily motor and predominantlyaffect face and oropharyngeal musculature, often lasting 30–60secs and occurring usually while asleep or upon awakening.

Neurologic exam is normal. TypicalEEG shows repetitive spike focus in centrotemporal area.

Recurrences after 16 yrs of age areunusual.

Temporal Lobe Epilepsy

Temporallobe seizures are most common cause of partial complex seizuresin adolescents.

Usually preceded by aura, which mayconsist of head deviation and posturing in children <2 yrsof age, epigastric sensation associated with fear in young children,and hallucinations in older children.

Onset is often noted by staring episodes,lip smacking, or chewing movements.

Duration is usually 1–2 mins,which is longer than with absence seizures. Period of confusionor tiredness usually follows.

MRI may reveal anatomic abnormality(e.g., hamartoma, slow-growing glioma, cyst, arteriovenous malformation,or mesial temporal sclerosis).

Juvenile Myoclonic Epilepsy

Usual onsetis 12–18 yrs of age.

Myoclonic jerks affect mainly shouldersand arms and rarely lower extremities.

Consciousness is usually preserved.

Tonic-clonic or absence seizures alsomay occur.

Sleep deprivation and photic stimulationcan trigger this type of seizure.

Characteristic EEG shows generalizedspike/polyspike-and-wake discharges.

Posttraumatic Epilepsy

Head traumacan cause seizures at any age.

Risk of seizures is related to severityof trauma. Children with cerebral contusion, intracerebral hematoma,or loss of consciousness for >24 hrs are at risk for developingseizures.

Generalized or focal seizures can occuras acute reaction of the brain to trauma, in 1–2 wks followingtrauma, or months later.

Diagnostic Approach

Neonatal Seizures

Phenomena That May Be Confused with Seizures

Determining whether a seizure has occurredmay be difficult in some neonates. Seizures may consist of clonicmovements, tonic posturing of extremity, repetitive random or suckingmovements, or eye deviation. Recurrent apnea also may occur as amanifestation of a seizure disorder, but it is rarely the only manifestation.Jitteriness and benign myoclonic phenomena must be distinguishedfrom seizures.

Jitteriness

Jitteriness is stimulus sensitive and hasa tremulous quality. It ceases when extremity is held.

Benign Neonatal Sleep Myoclonus

Occurs duringdrowsiness and sleep but not during wakefulness.

Consists of isolated jerking movementsof arm or leg.

Pathologic myoclonic jerks in newbornsare not related to sleep; face and trunk may be involved, and EEGis abnormal.

Evaluation

Historyand physical exam suggest most likely causes of neonatal seizures.

Certain tests should be performed initially:CBC with differential; blood glucose and urea nitrogen; and serumelectrolytes, creatinine, calcium, phosphorus, and magnesium.

If meningitis or septicemia is suspected,spinal fluid analysis with appropriate cultures, blood culture,UA, and urine culture should be performed.

Imaging of brain with head U/Splus CT or MRI is useful for suspected brain malformations and intracranialhemorrhage.

The following tests should be consideredfor suspected metabolic disorders: serum ammonia, lactate, pyruvate,carnitine, liver function tests, amino acids, blood pH, and PCO₂;urine for reducing sugars, ketones, and organic acid analysis; andcerebrospinal fluid glycine. Simultaneous video-EEG recording mayclarify whether seizures are occurring and if so, what type theyare.

Blood glucose determination confirmspresence of hypoglycemia.

With symptomatic hypoglycemia, intravenousglucose should be given, but before glucose is given, blood sampleshould be drawn and held for subsequent tests.

Serum insulin level of >10μU/mL in presence of hypoglycemia is evidence forhyperinsulinemia.

Serum cortisol level of <10μg/dL suggests adrenal insufficiency. Low serum cortisoland growth hormone levels suggest pituitary disease.

Presence of hepatomegaly suggests galactosemia,hereditary fructose intolerance, or glycogen storage disease (typesI, III, VI). Urine positive for reducing sugars occurs with galactosemiaand hereditary fructose intolerance.

If diagnosis is uncertain and seizuresdo not respond to therapy, 100–200 mg of intravenous pyridoxinemay be given, while monitoring clinical and EEG responses.

Postneonatal Seizures

Phenomena That May Be Confused with Seizures

Clinical phenomena that may be confused withseizures are syncope, breath-holding spells, tics, benign paroxysmalvertigo, pseudoseizures, night terrors, migraine, and spasmus nutans.Manifestations of each are briefly described and contrasted withthose of seizures.

Syncope

May be precededby dizziness or nausea. There is loss of postural tone, and individual collapses.Bradycardia and lowered BP occur in neurocardiogenic syncope (commonfaint).

History may include evidence of anxiety,hyperventilation, systemic illness, fasting, or prolonged standing,especially in warm weather or in closed quarters.

Tonic-clonic movements are uncommon,and urine incontinence is rare.

After episode, confusion is uncommonand amnesia does not occur.

Breath-Holding Spells

Unusualbefore 6 mos of age and usually cease by 6 yrs of age.

Pallid breath holding, which is consideredvariant of neurocardiogenic syncope, usually follows acute painor an injury. Infant or child becomes pale and loses consciousness;however, complete recovery occurs in 1–2 mins.

More common is cyanotic breath-holdingspell, where infant or child cries, holds breath during expiration,and turns dusky until breathing occurs again. Prolonged episodemay result in tonic-clonic movements and loss of consciousness.

Tics

Recurrent involuntary movements that maymimic seizures. No loss or change in consciousness or postictalphenomena occur. Verbal tics also occur, especially in Tourettesyndrome.

Benign Paroxysmal Vertigo

Usuallydevelops in children 2–6 yrs of age.

Sudden episodes are associated withfalling, refusing to walk, nausea, vomiting, and nystagmus. Duringthe episode, ability to communicate and talk is retained.

Episodes may last seconds to minutesand can occur daily or every few months.

Pseudoseizures (Nonepileptic Events)

Typicallyoccur at 10–18 yrs of age and are more common in girls.They may be seen, however, in children as young as 4–6yrs of age.

These events represent a form of conversionreaction, sometimes as a result of physical or sexual abuse.

Episodes can mimic generalized tonic-clonic,tonic, and complex partial seizures, but they differ from true seizuresin several ways. Onset of movements gradually builds up to paroxysmcompared with sudden onset of epileptic attack. Motor movementsare not true clonic movements but range from quivering to flailingof extremities. Postures and verbalizations are unusual.

Afterward, most individuals becomeimmediately responsive and do not experience postictal state.

Urination and tongue biting are infrequentbut may occur. Episodes never occur during sleep and only infrequentlywhen child is alone.

Ictal EEG shows no paroxysmal discharges.

Pseudoseizures also can occur in individualswho have true seizures.

Night Terrors

Common in children 5–7 yrs of age,particularly in boys, and occur during slow-wave sleep. Childrenscream, thrash around, and appear frightened. Seem unaware of theirparents and surroundings. Difficult to console and do not rememberepisode. In contrast, nightmares occur during rapid eye movement sleep,and children can often recall episode.

Migraine

Transientconfusional states and focal neurologic signs may occur during migraine episode.

Family history of migraine usuallyexists.

Migraine and seizures may occur insame individual, so careful evaluation is important.

Spasmus Nutans

Characterized by triad of head nodding, nystagmus,and torticollis.

Evaluation

Once ithas been established that a seizure has occurred, seizure type andcause must be determined if possible. Direct observation or carefulhistory may permit physician to determine seizure type, but thisis not always possible, and EEG is often helpful.

Age of onset, type of seizure, medicalhistory, circumstances in which seizure occurs, and physical examhelp determine whether patient has epileptic syndrome. Importantto recognize particular epileptic syndrome to determine appropriatetherapy and prognosis as well as to assess genetic risk.

Child who presents with fever and seizureusually has either febrile seizure or intracranial infection (meningitisor encephalitis).

Lumbar puncture should be performedin any child with suspected meningitis or encephalitis.

Because clinical exam is more reliablein child >18 mos of age than in younger infant, lumbarpuncture may not be necessary in older child with simple febrileseizure who appears otherwise well and has normal physical exam.

With occurrence of nonfebrile seizure,serum sodium, glucose, calcium, magnesium, creatinine, and bloodurea nitrogen should be measured. Approach to hypoglycemia has alreadybeen discussed. EEG should be performed except for child with typicalfebrile seizure.

History of head trauma suggests presenceof contusion, skull fracture, or intracranial hemorrhage. Childabuse is frequent cause of head trauma, and other clues (e.g., obviousbruising) may be seen. Shaking injury may produce extensive traumawith no visible evidence of injury.

With history of head trauma and seizure,CT should be performed.

With evidence of increased intracranialpressure or focal findings including focal seizures, intracranialmass lesion should be suspected and CT or MRI should be performed.MRI is preferred over CT for diagnosis of small hamartomas or othermalformations, neuronal migrational disorders, and mesial temporalsclerosis.

Drug or poison ingestion is anotherpossible cause of acute seizure, and history may be diagnostic.Otherwise, urine toxicology screen may confirm diagnosis.

Cerebral angiography is useful in thediagnosis of a vascular lesion (e.g., cerebral aneurysm or arteriovenousmalformation).

Other tests should be ordered, dependingon presence of other findings (e.g., progressive neurologic syndrome).

If uncertain whether seizures are occurring,simultaneous video-EEG recording can be performed. Although EEGis useful to help confirm diagnosis of epilepsy and classify typeof seizures, normal interictal EEG may occur with epilepsy and abnormalEEG does not confirm diagnosis unless seizure has been clinicallyrecognized. EEG should be recorded during wakefulness and sleep,and maneuvers that may activate seizure activity (e.g., hyperventilation,photic stimulation, and sleep deprivation) should be performed.

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Source: The Diagnostic Approach to Symptoms and Signs in Pediatrics, 2006

Seizures, complex partial: History and physical examination
(Nursing: Interpreting Signs and Symptoms)

If you witness a complex partial seizure, never attempt to restrain the patient. Instead, lead him gently to a safe area. (Exception: Don't approach him if he's angry or violent.) Calmly encourage him to sit down, and remain with him until he's fully alert. After the seizure, ask him if he experienced an aura. Record all observations and findings. Obtain a history. Has the patient experienced a seizure in the past? Has he had a recent head injury? Has he experienced any fever, headaches, or periods of confusion? Obtain a complete drug history. Take his vital signs and perform a complete neurologic examination.

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Source: Nursing: Interpreting Signs and Symptoms, 2007

Seizures, absence: History and physical examination
(Nursing: Interpreting Signs and Symptoms)

If you suspect a patient is having an absence seizure, evaluate its occurrence and duration by reciting a series of numbers and then asking him to repeat them after the attack ends. If the patient has had an absence seizure, he can't do this. Alternatively, if the seizures are occurring within minutes of each other, ask the patient to count for about 5 minutes. He'll stop counting during a seizure and resume when it's over. Look for accompanying automatisms. Find out if the family has noticed a change in behavior or deteriorating schoolwork.

Next, perform a complete neurologic examination.

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Source: Nursing: Interpreting Signs and Symptoms, 2007

Seizures, simple partial: History and physical examination
(Nursing: Interpreting Signs and Symptoms)

Be sure to record the patient's seizure activity in detail; your data may be critical in locating the lesion in the brain. Does the patient turn his head and eyes? If so, to what side? Where does movement first start? Does it spread? Because a partial seizure may become generalized, you'll need to watch closely for loss of consciousness, bilateral tonicity and clonicity, cyanosis, tongue biting, and urinary incontinence. (See “Seizures, generalized tonic-clonic,” page 552.)

After the seizure, ask the patient to describe exactly what he remembers, if anything, about the seizure. Check the patient's LOC, and test for residual deficits (such as weakness in the involved extremity) and sensory disturbances.

Then obtain a history. Ask the patient what happened before the seizure. Can he describe an aura or did he recognize its onset? If so, how—by a smell, a vision disturbance, or a sound or visceral phenomenon such as an unusual sensation in his stomach? How does this seizure compare with others he has had?

Also, explore fully any history—recent or remote—of head trauma. Check for a history of stroke or recent infection, especially with fever, headache, or stiff neck.

Perform a complete neurologic examination.

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Source: Nursing: Interpreting Signs and Symptoms, 2007

Seizures, generalized tonic-clonic: History and physical examination
(Nursing: Interpreting Signs and Symptoms)

If you didn't witness the patient's seizure, obtain a description from his companion. Ask when the seizure started and how long it lasted. Did the patient report unusual sensations before the seizure began? Did the seizure start in one area of the body and spread, or did it affect the entire body right away? Did the patient fall on a hard surface? Did his eyes or head turn? Did he turn blue? Did he lose bladder control? Did he have other seizures before recovering?

If the patient may have sustained a head injury, observe him closely for loss of consciousness, unequal or nonreactive pupils, and focal neurologic signs. Does he complain of headache and muscle soreness? Is he increasingly difficult to arouse when you check on him at 20-minute intervals? Examine his arms, legs, and face (including tongue) for injury, residual paralysis, or limb weakness.

Next, obtain a history. Has the patient ever had generalized or focal seizures before? If so, do they occur frequently? Do other family members also have them? Is the patient receiving drug therapy? Is he compliant? Also, ask about sleep deprivation and emotional or physical stress at the time the seizure occurred.

Next, assess the patient's level of consciousness (LOC) and proceed with a complete neurologic examination.

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Source: Nursing: Interpreting Signs and Symptoms, 2007

DEPRESSION, ANXIETY, AND OTHER ABNORMAL PSYCHIC STATES: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

The association of other symptoms and signs is all important. A triiodothyronine (T₃) level, total thyroxine (T₄) level, and free thyroxine index (FT₄), a urine for porphobilinogen, serum electrolytes, toxicology screen, lead level, 24-hour urine, 17-ketosteroid level, and 17-hydroxycorticosteroid level should be done on anyone suspected of having endogenous depression. (Possibly all depressed patients should get this screen.) Skull x-ray film, EEG, CT scan, and even a spinal tap (to rule out multiple sclerosis [MS] and lues) may be worthwhile when other neurologic signs are present. case presentation #14 A 62-year-old white woman is brought to your office because the family has noticed that she is depressed. The patient has insomnia, frequent nightmares, and weight loss over the past 6 months despite the fact that she has a good appetite.

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Source: Differential Diagnosis in Primary Care, 2007

Seizures - Case 19-3: 8-Month-Old Boy: I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)

II. Past Medical History

III. Physical Examination

IV. Diagnostic Studies

» READ BOOK EXCERPT ONLINE »

Source: Pediatric Complaints and Diagnostic Dilemmas, 2003

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