Interval Spectral-Domain Optical Coherence Tomography and Electrophysiology Findings in Neonatal Adrenoleukodystrophy
A 20-month-old boy was referred for examination following a diagnosis of neonatal adrenoleukodystrophy (NALD). He initially presented with delayed developmental milestones, hypotonia, and macrocephaly with a large anterior fontanelle. Pregnancy was uncomplicated; there was no related family history. Laboratory studies showed elevated very long-chain fatty acid and phytanic acid levels, and cultured skin fibroblast complementation analysis confirmed the diagnosis of NALD.