婴儿期豹斑状视网膜色素沉着提示过氧化物酶体病。
Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder.
作者信息
Lyons C J, Castano G, McCormick A Q, Applegarth D
机构信息
Department of Ophthalmology, A136 British Columbia Children's Hospital, 4480 Oak Street, Vancouver, BC, Canada V6H 3V4.
出版信息
Br J Ophthalmol. 2004 Feb;88(2):191-2. doi: 10.1136/bjo.2003.023010.
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.
背景
新生儿肾上腺脑白质营养不良（NALD）是一种由过氧化物酶体生物合成异常引起的罕见疾病。受影响的患者在婴儿期出现发育迟缓、肌张力减退和癫痫发作。失明和眼球震颤是突出特征。作者认为外周视网膜中特征性的豹斑状色素沉着模式具有诊断意义。
方法
报告了3例具有此表现的患者；其中1例因特征性的视网膜外观而得以早期诊断。
结论
肌张力减退、癫痫发作、发育迟缓，伴有或不伴有畸形特征和听力障碍的婴儿出现豹斑状视网膜病变，是诊断NALD的线索。
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