Journal
NEUROCASE
Volume 27, Issue 4, Pages 366-371Publisher
ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
DOI: 10.1080/13554794.2021.1966046
Keywords
Mucopolysaccharidosis type IIIB; sanfilippo disease; intellectual disability; developmental delay; autistic like features
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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.
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