面部粗糙、肌张力减退和神经发育退化

A. Miranda, M. Ezequiel, C. Luís, J. Dupont, Paulo Gaspar, L. Vilarinho, P. Janeiro, A. Gaspar
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引用次数: 0

摘要

先天性代谢错误是一类异质性的多系统疾病,虽然个别罕见,但总体上相当常见。中枢神经系统通常受到影响。作者报告了一个五个月大的女孩的案例,她是非血缘父母的女儿,在一次不起眼的足月妊娠和分娩后出生。从五个月大开始,就注意到低血压和神经发育退化,以及面部畸形、肝肿大、癫痫发作和扩张型心肌病的渐进性发作。1型神经节苷脂病的诊断通过生化、酶促和遗传检查得到证实。本报告加强了多学科方法和后续行动的相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Coarse face, hypotonia, and neurodevelopmental regression
Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected.The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings.This report enhances the relevance of multidisciplinary approach and follow-up.
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