C J Lyons1, G Castano, A Q McCormick, D Applegarth. 1. Department of Ophthalmology, A136 British Columbia Children's Hospital, 4480 Oak Street, Vancouver, BC, Canada V6H 3V4. cjlyons@telus.net
Abstract
BACKGROUND: Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic. METHODS: Three patients are reported with this presentation; the characteristic retinal appearance resulted in early diagnosis for one of these. CONCLUSION: Leopard spot retinopathy in an infant with hypotonia, seizures, developmental delay, with or without dysmorphic features and hearing impairment, is a clue to the diagnosis of NALD.
BACKGROUND:Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic. METHODS: Three patients are reported with this presentation; the characteristic retinal appearance resulted in early diagnosis for one of these. CONCLUSION:Leopard spot retinopathy in an infant with hypotonia, seizures, developmental delay, with or without dysmorphic features and hearing impairment, is a clue to the diagnosis of NALD.
Authors: S M Cohen; F R Brown; L Martyn; H W Moser; W Chen; M Kistenmacher; H Punnett; Z C de la Cruz; N R Chan; W R Green Journal: Am J Ophthalmol Date: 1983-10 Impact factor: 5.258
Authors: S M Cohen; W R Green; Z C de la Cruz; F R Brown; H W Moser; M W Luckenbach; D J Dove; I H Maumenee Journal: Am J Ophthalmol Date: 1983-01 Impact factor: 5.258