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.
Correspondence: Dr Pennesi, Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, 3375 Terwilliger Blvd, Room 5243, Portland, OR 97239 (firstname.lastname@example.org).
Published Online: April 18, 2013. doi:10.1001/jamaophthalmol.2013.2089
Conflict of Interest Disclosures: None reported.