Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation. Issue 4 (4th July 2021)

• Record Type: Journal Article
• Authors: Değerliyurt, Aydan; Yayıcı Köken, Özlem; Teker, Neslihan Düzkale; Aktaş, Dilek
• Is Part Of: Neurocase. Volume 27:Issue 4(2021)
• Page Start: 366
• Page End: 371
• Publication Date: 2021-07-04
• Subjects: Mucopolysaccharidosis type IIIB -- sanfilippo disease -- intellectual disability -- developmental delay -- autistic like features; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2021.1966046
• Languages: English
• ISSNs: 1355-4794

Abstract

ABSTRACT: 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.