Peroxisomal disorders. Neonatal Adrenoleukodystrophy (NALD)
Incidence
AR inheritance.
Clinical Characteristics
Present as a mild form of Zellweger syndrome. Absent or mild craniofacial dysmorphysm. Developmental delay or deterioration, hypotonia, seizures, poor vision (retinal degen). FTT, Subclinical adrenal insuficiency. Progressive deterioration and death < 6 yrs but some patients reach adolescence. Hepatic peroxisomes are undetected or rare & small. Hepatomegaly is present. May be fulminant in its course.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
VLCFA (notably C26:0) are elevated x6. Also pipecolic acid in plasma & CSF. Phytanic acid elevated. Decreased plasmalogen content in RBCs & cultured Fibroblasts. Defective dihydroxyacetone phosphate acyltransferase in Fibrob. Biochemical abnormalities similar to Zellweger syndrome. Cortisol response to ACTH is reduced.