Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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February 6, 2014
Adrenomyeloneuropathy
- Adrenomyeloneuropathy (AMN) is an adult variant of X-linked adrenoleukodystrophy, characterized by ABCD1 gene mutation, that results in impaired peroxisome function with accumulation of very long chain fatty acids (VLCFA) and demyelination.
- Clinical Presentation: Age of onset: 28 years. Progressive spastic paraparesis beginning in distal lower extremities with hyperreflexia, impaired vibration sense, and sphincter dysfunction. Patients can also have adrenal insufficiency. Women who are heterozygotes may show AMN-like symptoms.
- Key Diagnostic Features: MR findings: Spinal cord atrophy, mostly thoracic. Lack of focal T2 abnormality, which may relate to indolent course of disease. Brain: Cerebral demyelination may be absent, confined to white matter tracts, or diffuse depending on subtype. Most common finding is increased T2 signal (demyelination) along corticospinal tracts, and less commonly along the spinothalamic tract and audiovisual pathways.
- Laboratory confirmation: Laboratory confirmation: Genetic analysis for ABCD1 gene mutation; increased VLCFA’s within CSF and plasma
- DDx: Amyotrophic lateral sclerosis
- Rx: Steroid replacement therapy, Lorenzo’s oil, bone marrow transplantation (no curative treatment)