Deparment of Pediatric Neurology, Ankara City Hospital, Ankara, Turkey.
Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
Neurocase. 2021 Aug;27(4):366-371. doi: 10.1080/13554794.2021.1966046. Epub 2021 Aug 16.
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.
黏多糖贮积症（MPS）IIIb 型患者表现出明显的神经发育和神经精神问题，而不是典型的 MPS 症状，如粗糙的面部特征、器官肿大或身材矮小，尤其是在首次出现时。我们报告了三个儿科病例，其中两个是有新的 NAGLU 基因突变的姐妹，强调在出现语言发育迟缓、自闭症样症状、严重行为和睡眠问题、运动恶化或特发性智力障碍伴有或不伴有难治性癫痫等神经发育和神经精神问题的患者中，应考虑 MPS IIIb 的诊断，特别是如果存在近亲结婚。
