Adrenoleukodystrophy (ALD)

Case contributed by Dr G Balachandran


The child was referred for evaluation of fever, gait disturbance, visual loss.

Patient Data

Age: 8 years
Gender: Male

MRI Brain

MRI of the brain demonstrates confluent and symmetric bilateral hyperintensities in white matter of the parieto-occipital regions, corpus callosum, acoustic radiation, inferior colliculus, lateral leminiscus, pons, cerebellar peduncle etc.

Case Discussion

X-linked adrenoleukodystrophy (ALD) is a genetically determined metabolic disorder that manifests clinically as dysfunctions of the central nervous system (CNS), adrenal glands and testicles. These dysfunctions are related to excessive accumulation of very long chain fatty acid (VLCFA) in tissues and plasma, which is caused by the failure of oxidative degradation of VLCFA that normally takes place in peroxisomes. There is widespread demyelination of white matter (particularly bilateral parieto-occipital region) with inflammatory reaction and atrophy of adrenal cortex..

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Case information

rID: 15689
Published: 1st Nov 2011
Last edited: 21st Nov 2019
Tag: ald
Inclusion in quiz mode: Included