Adrenoleukodystrophy physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Adrenoleukodystrophy has numerous phenotypes with various clinical findings. The most aggressive one is Childhood cerebral type which results in behavioural changes, school failure, dementia, speech impairment, bulbar palsy, paralysis and audiovisual changes on examination. Most males in childhood have adrenal insufficiency that can show orthostatic hypotension, hyperpigmentation and confusion. Females who are heterozygous and symptomatic can have sphincter disturbances, incoordination and paraparesis.

Physical Examination

Adrenoleukodystrophy has numerous phenotypes with various clinical findings. Some of the general examination findings which can occur in all phenotypes are listed as following:

HEENT

• Strabismus
• Hearing loss
• Visual impairment or blindness

Neck

Neck examination of patients with Adrenoleukodystrophy is usually normal.

Lungs

Pulmonary examination of patients with Adrenoleukodystrophy is usually normal.

Heart

Cardiovascular examination of patients with Adrenoleukodystrophy is usually normal.

Abdomen

• Swallowing difficulties
• Decreased appetite
• Vomiting
• Loss of weight

Back

Back examination of patients with Adrenoleukodystrophy is usually normal.

Neuromuscular

• Changes in muscle tone, especially muscle spasms and spasticity
• Aphasia
• Deterioration of handwriting
• Difficulty at school
• Difficulty understanding spoken material
• Hyperactivity
• Worsening nervous system deterioration
  • Coma
  • Decreased fine motor control
  • Paralysis
• Seizures
• Possible worsening muscle weakness or leg stiffness
• Problems with thinking speed and visual memory

Skin

• Increased skin color (pigmentation)

Genitourinary

• Difficulty controlling urination

Physical exam findings related to specific phenotype

Phenotypes	Examination Findings
Childhood Cerebral	Behavioural changes Dementia Speech impairment Bulbar palsy Paralysis Audiovisual disturbances
Adrenomyeloneuropathy (AMN)	Paraparesis Sphincter disturbances Sensory changes Incoordination
Addison disease only	Orthostatic hypotension Fever Weakness Hyperpigmentation Seizures Confusion
Mild myelopathy	Increased deep tendon reflexes Sensory disturbances in lower extremities Incoordination Sphincter disturbances