Short stature as a presenting symptom of attenuated Mucopoly
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Recognition of short stature and growth failure as symptoms of MPS I among pediatric endocrinologists may lead to earlier diagnosis and treatment.

Mucopolysaccharidosis type I (MPS I) is a life-threatening, autosomal recessive disease caused by deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme responsible for metabolizing the glycosaminoglycans (GAGs) dermatan and heparan sulfate. MPS I has an estimated incidence of 1/100,000 live births with a spectrum of phenotypes that range from severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syndromes) disease, depending on neurocognitive involvement and the rate of disease progression

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.