期刊
NEUROCASE
卷 27, 期 4, 页码 366-371出版社
ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
DOI: 10.1080/13554794.2021.1966046
关键词
Mucopolysaccharidosis type IIIB; sanfilippo disease; intellectual disability; developmental delay; autistic like features
Diagnosis of MPS type IIIB should be considered in patients presenting with neurodevelopmental and neuropsychiatric problems, especially in cases of consanguineous marriage.
Mucopolysaccharidosis (MPS) type IIIB patients present with marked neurodevelopmental and neuropsychiatric problems and not with typical MPS symptoms such as coarse facial features, organomegaly, or short body height, especially at the first presentation. We present three pediatric cases, two of which are sisters with novel NAGLU gene mutations, to emphasize that diagnosis of MPS type IIIB should be remembered in patients presenting with neurodevelopmental and neuropsychiatric problems such as delayed speech, autistic-like symptoms, severe behavioral and sleep problems, motor deterioration or idiopathic intellectual disability with or without refractory epilepsy, especially if there is aconsanguineous marriage.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据