Mucopolysacaridosis Type Iiib Misdiagnosed as an Autistic Spectrum Disorder: A Case Report and Literature Review

Abstract

Objective: To report a rare case of mucopolysaccharidosis IIIB in a pediatric patient, with emphasis on the description of the clinical manifestations and the early diagnosis. Case description: A 14-year-old male patient, who presented regression of neuropsychomotor development since his three years and six months old, with speech loss and frequent falls, evolving with behavioral changes, with agitation and aggressiveness. Although being diagnosed with autism, there was no response to the established treatment; he was subsequently submitted to metabolic investigation, which lead to the diagnosis of Mucopolysaccharidosis IIIB. Comments: Identifying a metabolic disorder requires connecting multiple signs and symptoms, as well as eliminating other apparent causes. MPS IIIB is a diagnostic challenge, particularly in the early stages and in the absence of a family history of the disease.

A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl

“…To the best of our knowledge, this is the first report of Sanfilippo syndrome type B from Saudi Arabia. In Table 1, we provided a summary of the clinical features previously reported with cases of Sanfilippo syndrome type B syndrome [10][11][12][13][14][15][16][17]. Most of the findings described in our patient were similar to those published in previous case reports.…”

COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

“…The drastic reduction in the number of requests for the investigation of MPS III can be explained by the usual diagnostic challenge, particularly in the early disease stages that can sometimes be confused with autism spectrum disorder, delaying the diagnosis of this disorder regardeless the COVID-19 pandemic ( Wittkowski and Hare, 2017 ; Irigonhê et al, 2020 ). Other factors, as the establishment of alternative industry-sponsored diagnostic programs, may also be involved.…”