Adrenoleukodystrophy differential diagnosis
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Adrenoleukodystrophy must be differentiated from Leigh syndrome, Niemann-Pick disease type C, Infantile Refsum disease, Zellweger syndrome, Pyruvate dehydrogenase deficiency, Arginase deficiency, Holocarboxylase synthetase deficiency, Glutaric aciduria type 1, Ataxia telangiectasia, Pontocerebellar hypoplasias, Metachromatic leukodystrophy, Pelizaeus-Merzbacher, Angelman syndrome, Rett syndrome, Lesch-Nyhan syndrome, Miller-Dieker lissencephaly and Dopa-responsive dystonia.
Differential Diagnosis
Adrenoleukodystrophy must be differentiated from other diseases that cause neurological manifestations in infants.
Diseases | Type of motor abnormality | Clinical findings | Laboratory findings and diagnostic tests | Radiographic findings | |||
---|---|---|---|---|---|---|---|
Spasticity | Hypotonia | Ataxia | Dystonia | ||||
Leigh syndrome | - | - | + | + |
|
| |
Niemann-Pick disease type C | - | - | + | + |
|
|
|
Infantile Refsum disease | - | + | + | - |
|
Elevated plasma VLCFA levels | -- |
Adrenoleukodystrophy | + | - | - | - |
|
|
-- |
Zellweger syndrome | - | + | - | - |
|
|
-- |
Pyruvate dehydrogenase deficiency | + | + | + | - | -- | ||
Arginase deficiency | + | - | - | - | -- | ||
Holocarboxylase synthetase deficiency | - | + | - | - | Elevated levels of:
|
-- | |
Glutaric aciduria type 1 | - | - | - | + |
|
Elevated levels of:
|
|
Ataxia telangiectasia | - | - | + | - |
|
|
-- |
Pontocerebellar hypoplasias | - | + | - | - |
|
Genetic testing for PCH gene mutations |
|
Metachromatic leukodystrophy | - | + | + | - |
|
|
-- |
Pelizaeus-Merzbacher | + | - | + | - |
|
| |
Angelman syndrome | - | - | + | - |
|
|
-- |
Rett syndrome | + | - | - | + |
|
-- | |
Lesch-Nyhan syndrome | + | - | - | + |
|
-- | |
Miller-Dieker lissencephaly | + | + | - | - |
|
|
-- |
Dopa-responsive dystonia | + | - | - | + |
|
|
-- |