Le Ngoc Minh D, Parikh Sumit
Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH 44195, USA.
J Child Neurol. 2012 Feb;27(2):234-7. doi: 10.1177/0883073811419261. Epub 2011 Sep 22.
Neuronal ceroid lipofuscinosis is a severe neurodegenerative lysosomal storage disorder. Gamma-aminobutyric acid and glutamate deficiency have been reported with CLN1, CLN3, and CLN6. Isolated biopterin/neopterin without dopamine deficiency has been reported in 1 patient with a CLN2 mutation. This report describes a patient with a CLN2 mutation with symptomatic biopterin and dopamine deficiency. A 4-year-old boy presented with intractable epilepsy and developmental regression starting 1 year previously. His exam showed retinopathy, scanning speech, dysmetria, and ataxic fenestrating gait with stooped posture. Electroencephalogram showed generalized spikes with occipital spikes on slow photic stimulation. Brain magnetic resonance images 1 year apart showed significant diffuse atrophy. CLN2 gene sequencing showed pathogenic compound heterozygous mutations. Cerebrospinal fluid neurotransmitters showed low homovanillic acid and tetrahydrobiopterin. Levodopa-carbidopa resulted in dramatic improvement of gait. Dopamine/biopterin deficiency is a possible secondary manifestation of CLN2 mutations. Levodopa and dopamine agonists might be useful in treating these secondary abnormalities and improving quality of life in these patients.
神经元蜡样脂褐质沉积症是一种严重的神经退行性溶酶体贮积症。据报道，CLN1、CLN3和CLN6患者存在γ-氨基丁酸和谷氨酸缺乏。1例CLN2突变患者报告有孤立的生物蝶呤/新蝶呤缺乏而无多巴胺缺乏。本报告描述了1例有症状性生物蝶呤和多巴胺缺乏的CLN2突变患者。一名4岁男孩自1年前开始出现难治性癫痫和发育倒退。他的检查显示有视网膜病变、断续言语、辨距不良以及共济失调性开窗步态伴弯腰姿势。脑电图显示在慢闪光刺激下有广泛性棘波伴枕部棘波。间隔1年的脑部磁共振成像显示有明显的弥漫性萎缩。CLN2基因测序显示致病性复合杂合突变。脑脊液神经递质显示高香草酸和四氢生物蝶呤水平低。左旋多巴-卡比多巴使步态显著改善。多巴胺/生物蝶呤缺乏可能是CLN2突变的一种继发表现。左旋多巴和多巴胺激动剂可能有助于治疗这些继发异常并改善这些患者的生活质量。
