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

Neurocase - 1 Aug 2021

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

Abstract excerpt

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...

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PMID: 34396902
DOI: 10.1080/13554794.2021.1966046

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