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BMC Endocrine Disorders
Published in: BMC Endocrine Disorders 1/2018

Open Access 01-12-2018 | Case report

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights

Authors: Ana Maria Martins, Kristin Lindstrom, Sandra Obikawa Kyosen, Maria Veronica Munoz-Rojas, Nathan Thibault, Lynda E. Polgreen

Published in: BMC Endocrine Disorders | Issue 1/2018

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Abstract

Background

Mucopolysaccharidosis type I (MPS I) results in significant disease burden and early treatment is important for optimal outcomes. Recognition of short stature and growth failure as symptoms of MPS I among pediatric endocrinologists may lead to earlier diagnosis and treatment.

Case presentation

A male patient first began experiencing hip pain at 5 years of age and was referred to an endocrinologist for short stature at age 7. Clinical history included recurrent respiratory infections, sleep apnea, moderate joint contractures, mild facial dysmorphic features, scoliosis, and umbilical hernia. Height was more than − 2 SD below the median at all time points. Growth velocity was below the 3rd percentile. Treatment for short stature included leuprolide acetate and recombinant human growth hormone. The patient was diagnosed with MPS I and began enzyme replacement therapy with laronidase at age 18.

Conclusions

The case study patient had many symptoms of MPS I yet remained undiagnosed for 11 years after presenting with short stature. The appropriate path to MPS I diagnosis when patients present with short stature and/or growth failure plus one or more of the common signs of attenuated disease is described. Improved awareness regarding association of short stature and growth failure with attenuated MPS I is needed since early identification and treatment significantly decreases disease burden.
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Metadata
Title
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights
Authors
Ana Maria Martins
Kristin Lindstrom
Sandra Obikawa Kyosen
Maria Veronica Munoz-Rojas
Nathan Thibault
Lynda E. Polgreen
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Endocrine Disorders / Issue 1/2018
Electronic ISSN: 1472-6823
DOI
https://doi.org/10.1186/s12902-018-0311-x

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