Diagnosis of Adrenoleukodystrophy

Adrenoleukodystrophy Diagnosis: Book Excerpts

• Differential Diagnosis - Paraplegia
• History and physical examination - Muscle spasticity [Muscle hypertonicity]
• History and physical examination - Gait, spastic [Hemiplegic gait]
• Diagnosis - Adrenal hypofunction
• Diagnosis - Creutzfeldt-Jakob disease
• Diagnosis - West Nile encephalitis
• History and physical examination - Skin, bronze
• History and physical examination - Muscle spasticity [Muscle hypertonicity]
• History and physical examination - Gait, spastic [Hemiplegic gait]
• Differential Overview - Peripheral Neuropathy
• Diagnosis - Adrenal hypofunction
• Diagnosis - Creutzfeldt-Jakob disease
• Diagnosis - Encephalitis
• Diagnosis - West Nile encephalitis
• History - Skin, bronze
• History - Muscle spasticity
• History and physical examination - Muscle spasticity [Muscle hypertonicity]
• History and physical examination - Gait, spastic [Hemiplegic gait]
• Approach to the Diagnosis - SPASTICITY

Diagnostic Tests for Adrenoleukodystrophy: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Adrenoleukodystrophy.

Paraplegia: Differential Diagnosis
(In a Page: Signs and Symptoms)

• Myelopathy
  –Compressive (e.g., spondylytic, spinal epidural abscess or hematoma)
  –Traumatic
  –Metabolic (e.g., vitamin B₁₂ deficiency)
  –Infectious (e.g., HIV or other viral myelitis, botulism)
  –Inflammatory (e.g., multiple sclerosis, SLE, vasculitis, transverse myelitis)
  –Vascular (spinal cord or cerebral infarct)
  –Neoplastic
• Congenital
  –Dysraphism: Spina bifida, tethered cord
  –Cerebral palsy
• Syringomyelia
• Cauda equina syndrome
  –Caused by compression of the cauda equina, often by a central disc herniation
  –Variable presentation with lower extremity weakness, sensory loss, pain, lower motor neuron findings on examination, and bowel/bladder disturbances
• Polyradiculopathy
• Peripheral neuropathy
  –Usually results in a chronic or insidious onset of lower extremity weakness (except Guillain-Barré syndrome, which may result in weakness over hours to days)
  –Guillain-Barré syndrome: Also results in upper extremity weakness
  –Myasthenia gravis
  –Eaton-Lambert syndrome
  –Amyotrophic lateral sclerosis
  • HTLV-I associated myelopathy
  • Hereditary spastic paraparesis
  • Spinocerebellar or Friedreich's ataxia
  • Myopathies (e.g., muscular dystrophy) may result in paraparesis, but usually also result in upper extremity weakness
  • Parafalcine meningioma
    –May result in bilateral lower extremity weakness by compressive effects on the medial frontal lobe bilaterally
  • Bilateral anterior cerebral artery infarction
  • Medications (e.g., pancuronium)
  • Periodic paralysis (secondary to hyper- or hypokalemia)
  • Tick paralysis
  • Lyme disease
  • Psychogenic (e.g., conversion disorder)

  Workup and Diagnosis

  • History and physical examination
    –Determine whether the weakness is more likely secondary to an upper or a lower motor neuron disorder (e.g., symmetric lower extremity weakness with hyperreflexia, positive Babinski's signs, and a dermatomal area of sensory loss suggests a myelopathy, whereas symmetric lower extremity weakness with areflexia and flexor plantar responses suggests a peripheral neuropathy; difficulty with bowel and/or bladder control suggests a myelopathy or cauda equina syndrome)
  • MRI is the usually the best imaging modality
    –Acute paraplegia/paraparesis is suggestive of an acute myelopathy or polyradiculopathy, and prompt imaging is required to identify surgically treatable lesions
  • EMG/nerve conduction studies to evaluate for possible neuropathy, polyradiculopathy, or myopathy
  • CSF examination may show signs of infection, elevated protein in Guillain-Barré syndrome, or findings consistent with multiple sclerosis (e.g., oligoclonal bands)
  • Laboratory testing may include CBC, electrolytes, calcium, glucose, ESR, vitamin B₁₂, folate, ANA
  • DNA testing is available for many of the inherited ataxias
  • Genetic testing

» READ BOOK EXCERPT ONLINE »

Source: In a Page: Signs and Symptoms, 2004

Muscle spasticity [Muscle hypertonicity]: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

When you detect spasticity, ask the patient about its onset, duration, and progression. What, if any, events precipitate its onset? Has he experienced other muscular changes or related symptoms? Does his medical history reveal an incidence of trauma or a degenerative or vascular disease?

Take the patient’s vital signs, and perform a complete neurologic examination. Test reflexes and evaluate motor and sensory function in all limbs. Evaluate muscles for wasting and contractures.

During your examination, keep in mind that generalized spasticity and trismus in a patient with a recent skin puncture or laceration indicates tetanus. If you suspect this rare disorder, look for signs of respiratory distress. Provide ventilatory support, if necessary, and monitor the patient closely.

» READ BOOK EXCERPT ONLINE »

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

Gait, spastic [Hemiplegic gait]: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

Find out when the patient first noticed the gait impairment and whether it developed suddenly or gradually. Ask him if it waxes and wanes, or if it has worsened progressively. Does fatigue, hot weather, or warm baths or showers worsen the gait? Such exacerbation typically occurs in multiple sclerosis. Focus your medical history questions on neurologic disorders, recent head trauma, and degenerative diseases.

During the physical examination, test and compare strength, range of motion (ROM), and sensory function in all limbs. Also, observe and palpate for muscle flaccidity or atrophy.

» READ BOOK EXCERPT ONLINE »

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

Adrenal hypofunction: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Diagnosis requires demonstration of decreased corticosteroid concentrations in plasma and an accurate classification of adrenal hypofunction as primary or secondary. If secondary adrenal hypofunction is suspected, the metyrapone test is indicated. This test requires oral or I.V. administration of metyrapone, which blocks cortisol production and should stimulate the release of corticotropin from the hypothalamic-pituitary system. In adrenal hypofunction, the hypothalamic-pituitary system responds normally, and plasma reveals high levels of corticotropin; however, plasma levels of cortisol precursor and urinary concentrations of 17-hydroxycorticosteroids don’t rise.

If either primary or secondary adrenal hypofunction is suspected, a short corticotropin stimulation test may be done. If both corticotropin and cortisol are low, the long corticotropin test may be done. The test involves I.V. administration of corticotropin over 6 to 8 hours, after samples have been obtained to determine baseline plasma cortisol and 24-hour urine cortisol levels. In adrenal hypofunction, plasma and urine cortisol levels fail to rise normally in response to corticotropin; in secondary hypofunction, repeated doses of corticotropin over successive days produce a gradual increase in cortisol levels until normal values are reached.

In a patient with typical addisonian symptoms, the following laboratory findings strongly suggest acute adrenal hypofunction:

❑ decreased cortisol levels in plasma (less than 10 mcg/dl in the morning, with lower levels in the evening); however, this test is time-consuming, and emergency therapy shouldn’t be postponed for test results

❑ decreased serum sodium and fasting blood glucose levels

❑ increased serum potassium and blood urea nitrogen levels

❑ elevated hematocrit and lymphocyte and eosinophil counts

❑ X-rays showing a small heart and adrenal calcification.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Creutzfeldt-Jakob disease: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

CJD must be considered for anyone experiencing signs of progressive dementia. Neurologic examination is the most effective tool in diagnosing CJD. Difficulty with rapid alternating movements and point-to-point movements are typically evident early in the disease.

An EEG may be performed to assess the patient for typical changes in brain wave activity. Computed tomography scan, magnetic resonance imaging of the brain, and lumbar puncture may be useful in ruling out other disorders that cause dementia. Though not diagnostic, presence of the 14-3-3 protein in the spinal fluid is highly suggestive of the disease when it’s accompanied by other characteristic symptoms. Definitive diagnosis usually isn’t obtained until an autopsy is done and brain tissue is examined.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

West Nile encephalitis: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

The immunoglobulin (Ig) M antibody capture enzyme-linked immunosorbent assay (MAC-ELISA) is the test of choice for rapid definitive diagnosis. The major advantage of MAC-ELISA laboratory analysis is the high probability of accurate diagnosis of WNV infection when performed with acute serum or cerebrospinal fluid specimens obtained while the patient is still hospitalized.

A new diagnostic test, the WNV MAC-ELISA, was recently approved by the Food and Drug Administration. This test detects levels of IgM antibodies in a patient's ser-um and is intended for use in patients with clinical symptoms consistent with viral encephalitis.

Other conditions to consider include St. Louis encephalitis, which is symptomatically similar.

Encephalitis can be caused by numerous viral and bacterial infections; all data must be examined to determine a definitive diagnosis.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

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

Begin by asking the patient when the hyperpigmentation first appeared. Has its hue changed? When was he last exposed to the sun or artificial tanning source? Also, ask about a history of infection, illness, surgery, or trauma. Does he have abdominal pain, weakness, fatigue, diarrhea, or constipation? Has he recently lost weight? If the patient is receiving maintenance therapy for adrenal insufficiency, has his dosage been increased?

Examine the mucosa, gums, and scars for hyperpigmentation. Check for signs of dehydration and for abdominal distention, loss of body hair, and tissue and muscle wasting. Palpate for hepatosplenomegaly.

» READ BOOK EXCERPT ONLINE »

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

Muscle spasticity [Muscle hypertonicity]: History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))

Once you detect spasticity, ask the patient about its onset, duration, and progression. What, if any, events precipitate onset? Has he experienced other muscular changes or related symptoms? Does his medical history reveal any incidence of trauma or degenerative or vascular disease?

Take the patient’s vital signs, and perform a complete neurologic examination. Test reflexes and evaluate motor and sensory function in all limbs. Evaluate muscles for wasting and contractures.

During your examination, keep in mind that generalized spasticity and trismus in a patient with a recent skin puncture or laceration indicates tetanus. If you suspect this rare disorder, look for signs of respiratory distress. Provide ventilatory support, if necessary, and monitor the patient closely.

» READ BOOK EXCERPT ONLINE »

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

Gait, spastic [Hemiplegic gait]: History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))

Find out when the patient first noticed the gait impairment and whether it developed suddenly or gradually. Ask him if it waxes and wanes or if it has worsened progressively. Does fatigue, hot weather, or warm baths or showers worsen the gait? Such exacerbation typically occurs in multiple sclerosis. Focus your medical history questions on neurologic disorders, recent head trauma, and degenerative diseases.

During the physical examination, test and compare strength, range of motion, and sensory function in all limbs. Also, observe and palpate for muscle flaccidity or atrophy.

» READ BOOK EXCERPT ONLINE »

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

Peripheral Neuropathy: Differential Overview
(Field Guide to Bedside Diagnosis)

❑ Diabetes

❑ Alcohol

❑ Vitamin B₁₂ deficiency

❑ Drugs

❑ Carcinomatous

❑ Lead

❑ Guillain-Barré

❑ Tabes dorsalis

❑ Syringomyelia

❑ Polyarteritis nodosa

❑ Amyloidosis

❑ Polymyositis

❑ Pellagra

❑ Arsenic

❑ Porphyria

❑ Wallenberg syndrome

❑ Thalamic lesion

❑ Brown-Sequard syndrome

Diagnostic Approach

Sensory neuropathy symptoms include positive phenomena such as tingling; pins/needles; and burning, cold, or lancinating pain. Physical findings include weakness, fasciculations, atrophy, ataxia, wide-based gait, abnormal sweating, decreased or absent deep tendon reflexes, orthostatic hypotension, hypesthesia surrounded by a zone of hyperesthesia, and vibration or position sense affected before pinprick or temperature sense.

Autonomic neuropathy symptoms include impotence, retrograde ejaculation, diaphoresis, incontinence, urinary retention, constipation, diarrhea, orthostatic dizziness, and flushing. Physical findings include delayed pupillary light response, resting tachycardia, sinus arrhythmia, and orthostatic hypotension.

Sensory loss confined to part of a limb suggests injury to a peripheral nerve, plexus, or spinal root, resulting from trauma, entrapment, or vascular insufficiency. Mononeuropathy multiplex affects multiple nerves over time (e.g., due to diabetes or vasculitis). Polyneuropathy occurs in a stocking-glove distribution starting with the longest nerves, and is due to axonal neuropathy, with a toxic or metabolic origin. Bilaterally symmetrical symptoms are found in polyneuropathy or spinal cord lesions, while unilateral involvement is seen in contralateral disease of the brainstem, thalamus, or cortex.

Injury to large myelinated nerves produces decreased light touch and proprioception with a sensation of “walking on a thick carpet” or imbalance. Injury to medium fibers causes decreased light touch and vibration sense. Injury to small unmyelinated fibers, as occurs in diabetes or amyloidosis, decreases pain and temperature sensation and produces dysesthesias. Disproportionate loss of vibration sense and proprioception compared with pain and temperature sensation occurs with diseases of the dorsal column of the spinal cord (e.g., neurosyphilis, vitamin B ₁₂ deficiency, or multiple sclerosis) and demyelinating polyneuropathy.

Transverse cord lesions produce loss of all modalities below the level of the lesion and a band of hyperalgesia at the level of the lesion. Lateral cord compression is heralded by early sensory changes. Dorsal cord compression affects proprioception and tactile discrimination without pain or temperature loss. Pernicious anemia and tabes dorsalis preferentially affect the dorsal columns.

» READ BOOK EXCERPT ONLINE »

Source: Field Guide to Bedside Diagnosis, 2007

Adrenal hypofunction: Diagnosis
(Handbook of Diseases)

The diagnosis of adrenal insufficiency should be made only with corticotropin stimulation testing to assess adrenal reserve capacity.

The corticotropin stimulation test involves I.M. or I.V. administration of cosyntropin with samples obtained 60 minutes later. Cortisol levels should be greater than 18 µg/dl. If the result is abnormal, primary and secondary adrenal insufficiency can be distinguished by measuring aldosterone levels from the same blood sample. With secondary adrenal insufficiency, the aldosterone level is normal (greater than or equal to 5 ng/dl). Baseline plasma cortisol levels may also be obtained. With Addison’s disease, plasma and urine cortisol levels fail to rise normally in response to corticotropin; with secondary hypofunction, repeated doses of corticotropin over successive days produce a gradual increase in cortisol levels until normal values are reached.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

Creutzfeldt-Jakob disease: Diagnosis
(Handbook of Diseases)

CJD must be considered for anyone experiencing signs of progressive dementia. Neurologic examination is the most effective tool in diagnosing CJD. Difficulty with rapid alternating movements and point-to-point movements are typically evident early in the disease.

An electroencephalogram may also be performed to assess the patient for typical changes in brain wave activity. Computed tomography scan, magnetic resonance imaging of the brain, and lumbar puncture may be useful in ruling out other disorders that cause dementia. Definitive diagnosis usually isn’t obtained until an autopsy is done and brain tissue is examined.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

Encephalitis: Diagnosis
(Handbook of Diseases)

During an encephalitis epidemic, diagnosis is easily based on clinical findings and patient history. Sporadic cases are difficult to distinguish from other febrile illnesses, such as gastroenteritis and meningitis. When possible, identification of the virus in cerebrospinal fluid (CSF) or blood confirms the diagnosis.

The common viruses that also cause herpes, measles, and mumps are easier to identify than arboviruses. Arboviruses and herpesviruses can be isolated by inoculating young mice with specimens taken from patients. In herpes encephalitis, serologic studies may show rising titers of complement-fixing antibodies. Virus-specific indirect fluorescent antibody assays have improved diagnosis.

In all forms of encephalitis, CSF pressure is elevated, and despite inflammation, the fluid is clear in many cases. White blood cell and protein levels in CSF are slightly elevated, but the glucose level remains normal. An EEG reveals abnormalities. Occasionally, a computed tomography scan may be ordered to rule out cerebral hematoma.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

West Nile encephalitis: Diagnosis
(Handbook of Diseases)

The immunoglobulin M antibody capture–enzyme-linked immunosorbent assay is the test of choice for rapid definitive diagnosis. It has a high probability of accurate diagnosis of WNV infection when performed with acute serum or cerebrospinal fluid specimens obtained while the patient is hospitalized.

Encephalitis can also be caused by numerous viral and bacterial infections, so data must be carefully examined to determine a definitive diagnosis. St. Louis encephalitis, which is symptomatically similar to West Nile encephalitis, should be considered.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

Skin, bronze: History
(Signs & Symptoms: A 2-in-1 Reference for Nurses)

Begin by asking the patient when the hyperpigmentation first appeared. Has its hue changed? When was he last exposed to the sun or artificial tanning source? Also, ask about a history of infection, illness, surgery, or trauma. Does he have abdominal pain, weakness, fatigue, diarrhea, or constipation? Has he recently lost weight? If the patient is receiving maintenance therapy for adrenal insufficiency, has his dosage been increased?

» READ BOOK EXCERPT ONLINE »

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

Muscle spasticity: History
(Signs & Symptoms: A 2-in-1 Reference for Nurses)

If you detect spasticity, ask the patient about its onset, duration, and progression. What, if any, events precipitate onset? Has he experienced other muscular changes or related symptoms? Does his medical history reveal any incidence of trauma or degenerative or vascular disease?

» READ BOOK EXCERPT ONLINE »

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

Muscle spasticity [Muscle hypertonicity]: History and physical examination
(Nursing: Interpreting Signs and Symptoms)

When you detect muscle spasticity, ask the patient about its onset, duration, and progression. What, if any, events precipitate its onset? Has he experienced other muscular changes or related symptoms? Does his medical history reveal an incidence of trauma or a degenerative or vascular disease?

Take the patient's vital signs, and perform a complete neurologic and musculoskeletal examination. Test reflexes and evaluate motor and sensory function in all limbs. Evaluate muscles for wasting and contractures.

Alert

During your examination, keep in mind that generalized spasticity and trismus in a patient with a recent skin puncture or laceration indicates tetanus. If you suspect this rare disorder, look for signs of respiratory distress. Provide ventilatory support, if necessary, and monitor the patient closely.

» READ BOOK EXCERPT ONLINE »

Source: Nursing: Interpreting Signs and Symptoms, 2007

Gait, spastic [Hemiplegic gait]: History and physical examination
(Nursing: Interpreting Signs and Symptoms)

Find out when the patient first noticed the gait impairment and whether it developed suddenly or gradually. Ask him if it waxes and wanes, or if it has worsened progressively. Does fatigue, hot weather, or warm baths or showers worsen the gait? Such exacerbation typically occurs in multiple sclerosis. Focus your medical history questions on neurologic disorders, recent head trauma, and degenerative diseases.

During the physical examination, test and compare strength, range of motion (ROM), and sensory function in all limbs. Also, observe and palpate for muscle flaccidity or atrophy.

» READ BOOK EXCERPT ONLINE »

Source: Nursing: Interpreting Signs and Symptoms, 2007

SPASTICITY: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

After the level of the lesion is established, an MRI or CT scan of that area can be ordered. A neurologist should be consulted first. A spinal tap will be useful in establishing the diagnosis of multiple sclerosis, encephalitis, and neurosyphilis if a space-occupying lesion has been ruled out.

» READ BOOK EXCERPT ONLINE »

Source: Differential Diagnosis in Primary Care, 2007

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