Significant neuropsychiatric symptoms: Three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation

Neurocase 2021 Aug 16;1-6. doi: 10.1080/13554794.2021.1966046

PMID: 34396902

Aydan Değerliyurt, Özlem Yayıcı Köken, Neslihan Düzkale Teker, Dilek Aktaş

Highlights: Diagnosis of MPS type IIIB should be remembered in cases presenting with neurodevelopmental and neuropsychiatric problems.

Abstract

Background: Patients with Mucopolysaccharidosis (MPS) type IIIB have severe neurodevelopmental and neuropsychiatric difficulties, rather than typical MPS symptoms including coarse facial features, organomegaly, or short body height, especially at the first presentation.

Objective: Here, we present three pediatric patients, two of which are sisters with novel NAGLU gene mutations, to highlight that diagnosis of MPS type IIIB should be remembered in cases 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 a consanguineous marriage.

Keywords: MPS, Mucopolysaccharidosis type IIIB, autistic like features, developmental delay, intellectual disability, sanfilippo disease