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MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW

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...

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Autores principales: Irigonhê, Alan Tibério Dalpiaz, Moreira, Angélica Malman Thomazine, do Valle, Daniel Almeida, Santos, Mara Lúcia Schmitz Ferreira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade de Pediatria de São Paulo 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584028/
https://www.ncbi.nlm.nih.gov/pubmed/33111769
http://dx.doi.org/10.1590/1984-0462/2021/39/2019397
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author Irigonhê, Alan Tibério Dalpiaz
Moreira, Angélica Malman Thomazine
do Valle, Daniel Almeida
Santos, Mara Lúcia Schmitz Ferreira
author_facet Irigonhê, Alan Tibério Dalpiaz
Moreira, Angélica Malman Thomazine
do Valle, Daniel Almeida
Santos, Mara Lúcia Schmitz Ferreira
author_sort Irigonhê, Alan Tibério Dalpiaz
collection PubMed
description 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.
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spelling pubmed-75840282020-11-02 MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW Irigonhê, Alan Tibério Dalpiaz Moreira, Angélica Malman Thomazine do Valle, Daniel Almeida Santos, Mara Lúcia Schmitz Ferreira Rev Paul Pediatr Case Report 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. Sociedade de Pediatria de São Paulo 2020-10-21 /pmc/articles/PMC7584028/ /pubmed/33111769 http://dx.doi.org/10.1590/1984-0462/2021/39/2019397 Text en https://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License
spellingShingle Case Report
Irigonhê, Alan Tibério Dalpiaz
Moreira, Angélica Malman Thomazine
do Valle, Daniel Almeida
Santos, Mara Lúcia Schmitz Ferreira
MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW
title MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW
title_full MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW
title_fullStr MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW
title_full_unstemmed MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW
title_short MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW
title_sort mucopolysacaridosis type iiib misdiagnosed as an autistic spectrum disorder: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584028/
https://www.ncbi.nlm.nih.gov/pubmed/33111769
http://dx.doi.org/10.1590/1984-0462/2021/39/2019397
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