Tachypnea of Infancy as the First Sign of Sanfilippo Syndrome-Reference-Cited by-同舟云学术

Tachypnea of Infancy as the First Sign of Sanfilippo Syndrome

Published:2014-09-01 Issue:3 Volume:134 Page:e884-e888
ISSN:0031-4005
Container-title:Pediatrics
language:en
Short-container-title:

Author:

Chiang Jackie¹²,Raiman Julian²³,Cutz Ernest⁴⁵,Solomon Melinda¹²,Dell Sharon¹²

Affiliation:

1. Divisions of Respiratory Medicine,

2. Department of Pediatrics and

3. Genetics and Metabolics, and

4. Pathology, The Hospital for Sick Children, Toronto, Ontario; and

5. Department of Laboratory medicine and Pathobiology, University of Toronto, Toronto, Ontario

Abstract

This report describes the first known case of Mucopolysaccharidosis type IIIA presenting with respiratory symptoms and characteristic lung pathology. This case highlights under-recognized areas of systemic involvement and earlier modes of presentation in lysosomal storage disorders as well as the importance of investigating infants who have persistent tachypnea.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology, and Child Health

Link

https://publications.aap.org/pediatrics/article-pdf/134/3/e884/901972/peds_2013-2765.pdf

Reference15 articles.

1. Respiratory manifestations in mucopolysaccharidoses.;Muhlebach;Paediatr Respir Rev,2011

2. Chronic lung disease after premature birth;Cutz;N Engl J Med,2008

3. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.;Valstar;Ann Neurol,2010

4. Sanfilippo syndrome: a mini-review.;Valstar;J Inherit Metab Dis,2008

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1. Mucopolysaccharidosis (MPS IIIA) mice have increased lung compliance and airway resistance, decreased diaphragm strength, and no change in alveolar structure;American Journal of Physiology-Lung Cellular and Molecular Physiology;2024-06-01

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3. Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management;Children;2024-05-30

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5. Increased Alveolar Heparan Sulphate and Reduced Pulmonary Surfactant Amount and Function in the Mucopolysaccharidosis IIIA Mouse;Cells;2021-04-08