Contributor: Gordon K. Klintworth
Neonatal adrenoleukodystrophy is a rare autosomal recessive inherited disease characterized by mental and neurologic deterioration due to a diffuse paucity of myelin within the central nervous system and atrophic, hypofunctional adrenal glands. This variant of adrenoleukodystrophy affects persons of both sexes. Mental retardation is severe and seizures are common. Dolichocephaly, a prominent high forehead, epicanthal folds, broad nasal bridge, and low-set ears typify the external appearance of the head in neonatal adrenoleukodystrophy. The adrenal glands are atrophic and hypofunctional (low plasma cortisol levels do not increase after corticotropin administration and clinical features of Addison disease may be evident. The adrenocortical disease may precede evidence of neurologic disease.This peroxisomal disorder is caused by mutations in the PEX5 gene, which is involved in VLCFA metabolism. A progressive visual loss secondary to bilateral optic atrophy or cortical blindness develops early in life and proceeds within months to no light perception. Nystagmus and a pigmentary retinopathy are early manifestations of neonatal adrenoleukodystrophy.