Diseases » Aicardi syndrome » Tests

Diagnostic Tests for Aicardi syndrome

Aicardi syndrome Tests: Book Excerpts

• DIAGNOSTIC WORKUP - RESPIRATION ABNORMALITIES
• DIAGNOSTIC WORKUP - PUPIL ABNORMALITIES
• History and physical examination - Seizures, absence
• History and physical examination - Seizures, simple partial
• History and physical examination - Seizures, generalized tonic-clonic
• History and physical examination - Seizures, complex partial
• History and physical examination - Seizures, absence
• History and physical examination - Seizures, simple partial
• History and physical examination - Seizures, generalized tonic-clonic
• Physical examination (PE) - Seizures
• Physical examination - Pap Smear Abnormality
• Diagnostic Approach - Seizures
• Physical assessment - Seizures, complex partial
• Physical assessment - Seizures, simple partial
• Physical assessment - Seizures, generalized tonic-clonic
• Diagnostic Approach - Seizures
• History and physical examination - Seizures, complex partial
• History and physical examination - Seizures, absence
• History and physical examination - Seizures, simple partial
• History and physical examination - Seizures, generalized tonic-clonic
• III. Physical Examination - Seizures - Case 19-3 8-Month-Old Boy

Home Diagnostic Testing

These home medical tests may be relevant to Aicardi syndrome:

• Brain & Neurological Disorders: Related Home Testing:
  • ADHD -- Home Tests
  • Drug Screening Kits

Aicardi syndrome Diagnosis: Book Excerpts

• Ask the Following Questions - RESPIRATION ABNORMALITIES
• Ask the Following Questions - PUPIL ABNORMALITIES
• Differential Diagnosis - Seizures/Convulsions
• Differential Diagnosis - Seizures – Neonatal
• Differential Diagnosis - Seizures – Childhood
• Approach to the Diagnosis - DEPRESSION, ANXIETY, AND OTHER ABNORMAL PSYCHIC STATES
• History - Seizures, complex partial
• History and physical examination - Seizures, absence
• History and physical examination - Seizures, simple partial
• History and physical examination - Seizures, generalized tonic-clonic
• History and physical examination - Seizures, complex partial
• History and physical examination - Seizures, absence
• History and physical examination - Seizures, simple partial
• History and physical examination - Seizures, generalized tonic-clonic
• History. - Seizures
• History - Pap Smear Abnormality
• Differential Overview
  - Seizures
• History - Seizures, generalized tonic-clonic
• History - Seizures, complex partial
• History - Seizures, simple partial
• History - Seizures, generalized tonic-clonic
• Clinical Features and Diagnosis - Seizures
• History and physical examination - Seizures, complex partial
• History and physical examination - Seizures, absence
• History and physical examination - Seizures, simple partial
• History and physical examination - Seizures, generalized tonic-clonic
• Approach to the Diagnosis - DEPRESSION, ANXIETY, AND OTHER ABNORMAL PSYCHIC STATES
• I. History of Present Illness - Seizures - Case 19-3 8-Month-Old Boy

Diagnostic Tests for Aicardi syndrome: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the diagnostic tests for Aicardi syndrome.

RESPIRATION ABNORMALITIES: DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)

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 .

 

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

PUPIL ABNORMALITIES: DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)

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 .

 

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

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.

» READ BOOK EXCERPT ONLINE »

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.

» READ BOOK EXCERPT ONLINE »

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.

» READ BOOK EXCERPT ONLINE »

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.

» READ BOOK EXCERPT ONLINE »

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.

» READ BOOK EXCERPT ONLINE »

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.

» READ BOOK EXCERPT ONLINE »

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.

» READ BOOK EXCERPT ONLINE »

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

Seizures: Physical examination (PE)
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)

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.

Testing

A. Clinical laboratory tests. Choice of tests is dictated by the patient’s age, history, physical findings, and type of seizure.

1. In evaluating a child, consider a random glucose, calcium, magnesium, electrolytes, and, possibly, a lead level and an electroencephalogram (EEG). In a child aged less than 5 years with one or two short generalized seizures associated with fever, no neurologic abnormality, and normal bloodwork, no imaging study is generally necessary (5).

2. In adults, obtain glucose, sodium, calcium, and consider thyroid function tests, heavy metal screen, and porphyrins.

3. Obtain a lumbar puncture when acute or chronic infection of subdural is suspected.

4. An abnormal EEG supports the diagnosis of seizure and hints at the cause and classification. A normal EEG does not exclude seizure.

B. Diagnostic imaging

1. In newborns, ultrasound or computerized tomography (CT) imaging may reveal intracerebral hemorrhage or structural abnormality.

2. Adolescents and adults should have a magnetic resonance imaging scan (or CT) to rule out focal and structural lesions.

C. Special studies include prolonged closed-circuit video EEG to distinguish psychogenic seizures or in a patient with continuing seizures and multiple normal EEGs.

Diagnostic assessment.

The key to diagnosis is the history and neurologic examination. A history with a focal component indicates a high likelihood of structural pathology. A recent febrile illness with seizure, headache, change in mental status, or confusion suggests acute CNS infection. A history of headache or change in mental function with seizure and abnormal neurologic examination suggests mass lesion. A clear, focal onset of the event (staring or head turning) may aid in distinguishing seizure from syncope. Emotional lability and a history of psychiatric treatment in a patient whose neurologic workup is negative may suggest a diagnosis of pseudoseizures. A pregnant patient near term who seizes may have pregnancy-induced hypertension or declining drug levels.

References

1. Dichter MA. The epilepsies and convulsive disorders. In: Braunwald E, Fauci AS, Isselbacher DL, et al., ed. Harrison’s principles of internal medicine, 13th ed. New York: McGraw-Hill, 1995:2223.

2. Bradford JC, Kyriakedes CG. Evaluation of the patient with seizures: an evidence based approach. Emerg Med Clin North Am 1999;17(1):203–220, ix–x.

3. Hauser WA. Seizure disorders: the changes with age. Epilepsia 1992;33(4):S6–S14.

4. Roth HL, Drislane FW. Seizures. Neurol Clin 1998;16:257–284.

5. Berg, AT, Shinnar S. The risk of seizure occurrence following a first unprovoked seizure: a quantitative review. Neurology 1991;41:965–972.

» READ BOOK EXCERPT ONLINE »

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

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

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).

Testing

Evaluation of an abnormal pap smear may involve further testing or an attempt to diagnose and establish the extent of the lesion.

A. Repeat pap smear. Low grade lesions can be followed with serial testing. Although false–negative finding rates of 20% to 45% have been reported, rates as low as 10% have been reported, using conization specimens as the reference (1). Repeat testing at frequent intervals minimizes this risk.

B. Cervicography. Photographic evaluation of the cervix may have a sensitivity comparable to a pap smear, but it has much lower specificity (50%). A 10% to 15% rate of unsatisfactory cervicograms further limits the utility of this test (1). Current recommendations limit its use to experienced physicians who understand its limitations (2).

 C. Human papillomavirus typing. HPV types 16, 18, 45, and 56 are strongly correlated with cervical cancer. Screening for HPV and HPV typing have been studied to identify high risk individuals. The positive predictive value of HPV screening is less than 10% (1), limiting its clinical usefulness. The role of typing as an adjunctive triage strategy remains under investigation.

Diagnostic assessment

 A. Reactive changes associated with inflammation. Infectious causes (e.g., Candida sp., Trichomonas vaginalis, Gardnerella vaginalis, herpes simplex virus, or Chlamydia trachomatis) are common. The pathologist may be able to identify an offending organism or typical cytologic changes. However, the clinician must provide clinical correlation regarding symptoms and the need for treatment. No data support empiric therapy. The pap smear should be repeated in 3 to 6 months, regardless of cause or treatment (5).

 B. Atypical squamous cells of uncertain significance (ASCUS). Multiple options are currently recommended based on the clinical setting and the patient’s risk. In a reliable patient, ASCUS can be followed with repeat cytology every 4 to 6 months for 2 years or until three consecutive, adequate, and negative smears are obtained. Recurrent ASCUS should be evaluated with colposcopy and biopsy (2,5). If the patient is postmenopausal or inflammation is present, a repeat pap smear after estrogen vaginal cream or appropriate antibiotic therapy can be considered (2). Close communication with the cytopathologist can clarify whether this process favors reactive or neoplastic changes and the relative incidence of neoplasia. ASCUS favoring a neoplastic process should be managed as a low grade squamous intraepithelial lesion (2).

 C. Low grade squamous intraepithelial lesion frequently reverts to normal. In the appropriate clinical setting with a reliable patient, cytology every 4 to 6 months until three consecutive, adequate, and negative smears is appropriate. However, because of the high rate of false–negative cytology findings, further evaluation with colposcopy, including biopsy and endocervical curettage (ECC) (2,5), is appropriate. Unreliable or high risk patients should undergo more aggressive evaluation. After the entire lesion and transformation zone are visualized, the histologically confirmed lesion can be ablated, excised, or observed (5).

 D. High grade squamous intraepithelial lesion. This category includes cancer in situ and moderate to severe dysplasia. Evaluation should include colposcopy, biopsy, and ECC. After identifying the entire lesion, excise or ablate the entire transformation zone (2,5).

E. Cancer. Cytology suggestive of invasive cancer should be evaluated with biopsy and referral to a physician experienced in the management of this disease.

F. Atypical glandular cells. Atypical glandular cells of undetermined significance (AGUS, AGCUS) should be subclassified according to favoring reactive process or neoplasia and by origin (endocervical or endometrial) (2). Endocervical atypia can be followed with colposcopy and ECC (5). If a neoplastic process is suspected, many believe that the best evaluation is diagnostic conization (2,5). Endometrial atypia should be evaluated by biopsy, hysteroscopy, or dilation and curretage (2,5).

References

1. US Preventive Services Task Force. Screening for cervical cancer. Guide to clinical preventive services, 2nd ed. Baltimore: Williams & Wilkins, 1996:105–117.

2. Kurman, RJ, Henson, DE, Herbst, AL, et al. Interim guidelines for management of abnormal cervical cytology. JAMA 1994;271:1866–1869.

3. Melnikow J, Nuovo J, Willan AR, et al. Natural history of cervical squamous intraepithelial lesions: a metaanalysis. Obstet Gynecol 1998;92:727–733.

4. Evaluation of cervical cytology. Summary, evidence report/technology assessment. No. 5. Rockville, MD: AHCPR, January 1999; http://www.ahcpr.gov/clinic/cervsumm.htm

5. American College of Obstetricians and Gynecologists. Cervical cytology: evaluation and management of abnormalities. Technical Bulletin No. 183. Washington, DC: American College of Obstetricians and Gynecologists, 1993.

» READ BOOK EXCERPT ONLINE »

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

Seizures: Diagnostic Approach
(Field Guide to Bedside Diagnosis)

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.

» READ BOOK EXCERPT ONLINE »

Source: Field Guide to Bedside Diagnosis, 2007

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

If the patient has had a seizure, examine him for injury. Make sure he has a patent airway, and then perform a complete neurologic assessment.

» READ BOOK EXCERPT ONLINE »

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

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

Take your patient’s vital signs. Perform a complete physical assessment, focusing on the neurologic assessment. Check the patient’s LOC, and test for residual deficits (such as weakness in the involved extremity) and sensory disturbances.

» READ BOOK EXCERPT ONLINE »

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

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

If the patient may have sustained a head injury, observe him closely for loss of consciousness, unequal or nonreactive pupils, and focal neurologic signs. Examine his arms, legs, and face (including tongue) for injury, residual paralysis, or limb weakness. If you haven’t already done so, take the patient’s vital signs. Then complete your neurologic assessment.

» READ BOOK EXCERPT ONLINE »

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

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

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.

>

» READ BOOK EXCERPT ONLINE »

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.

» READ BOOK EXCERPT ONLINE »

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.

» READ BOOK EXCERPT ONLINE »

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.

» READ BOOK EXCERPT ONLINE »

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.

» READ BOOK EXCERPT ONLINE »

Source: Nursing: Interpreting Signs and Symptoms, 2007

Seizures - Case 19-3: 8-Month-Old Boy: III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)

IV. Diagnostic Studies

» READ BOOK EXCERPT ONLINE »

Source: Pediatric Complaints and Diagnostic Dilemmas, 2003

 » Next page: Diagnosis of Aicardi syndrome

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Next articles:

• Diagnosis of Aicardi syndrome
• Signs of Aicardi syndrome
• Complications of Aicardi syndrome
• Misdiagnosis of Aicardi syndrome
• Undiagnosed Aicardi syndrome

Tools & Services:

• Bookmark this page
• Take a survey relating to Aicardi syndrome
• Symptom Search
• Symptom Checker
• Medical Dictionary
• Give your feedback

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

Enter your search terms Submit search form
Search The Web Search wrongdiagnosis.com

homepage | back to top

Common Health Mistakes

Choose ... Alzheimers & Dementia Asthma Child ADHD ADHD in Adults Allergy Hypertension Bipolar Breast Cancer Celiac Disease Crohns Disease Colon Cancer Contraception Diabetes Cancer Depression Erectile Disorder Cholesterol COPD GERD Heartburn/Reflux Metabolic Syndrome Migraine/Headache Multiple Sclerosis Obesity Osteoporosis Overactive Bladder Psoriasis Sexual Disorder Sleep Disorders Smoking The Pill Ulcerative Colitis All Common Mistakes

Symptom
Checker

Choose... Fever Rash Pain Headache Fatigue Cough Other symptoms

Search Specialists by State and City

Choose... GENERAL PRACTICE CARDIAC HEALTH WOMEN'S HEALTH CANCER CARE RADIOLOGY MENTAL HEALTH PATHOLOGY EAR, NOSE, THROAT MEDICINE GENETICS NEUROLOGY DIALYSIS CARE SURGERY ORTHOPEDICS/SPORTS MEDICINE CHILDREN'S HEALTH OTHER SPECIALTIES