Neonatal adrenoleukodystrophy (NALD)

NeuroLearn NeuroHelp Metabolic @ Peroxisomal disorders, classification

Clincial: This is a condition that is distinctly different from X-ALD. It is a peroxisomal disease with assembly deficiency. Presentation is early and involves both sexes. Clinical features include hypotonia, seizures and failure to thrive. There is also dysmorphic facial features similar to Zellweger’s syndrome but is less severe.

Pathology:

• The major change in the CNS is demyelination, perivascular lymphocytic infiltration, macrophages containing PAS-(+) material, and neuronal migration disorder (less impressive that that in Zellweger’s syndrome).

• Adrenal glands are severely atrophic and contains ballooned and striated birefrigent cortical cells with trilaminar inclusions common to peroxisomal diseases with assembly deficiency.

• Hepatic peroxisomes are rare or absent.

Differential diagnosis from X-linked adrenoleukodystrophy.

NeuroLearn NeuroHelp Metabolic For Comment: KarMing-Fung@ouhsc.edu