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

Abstract

BackgroundMucopolysaccharidosis 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 presentationA 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.ConclusionsThe 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.

A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management

“…and skeletal diseases (kyphoscoliosis, dysostosis multiplex, etc.) (18). The symptoms of IH may start in the first year of life with severe and multisystem symptoms.…”

Diagnosis of Mucopolysaccharidoses

“…In some case reports, a presenting manifestation was the key to the suspicion of MPS [12][13][14]. In those cases, MPS-related signs and symptoms were already present (see Table 1), although the diagnosis was not considered before.…”

“…For adults, the same authors proposed as red flags: non-inflammatory aortopathy; corneal opacity; and retinitis. Other similar red flags were proposed for pediatric endocrinologists when evaluating children with short stature [12].…”

Best practices, challenges and innovations in pediatrics in 2019

“…However, the mechanism behind short stature is not completely known. Structurally, skeletal abnormalities limit longitudinal growth and final height, but alone cannot explain short stature [23].…”

“…However, the mechanism behind short stature is not completely known. Structurally, skeletal abnormalities limit longitudinal growth and final height, but alone cannot explain short stature [ 23 ]. Standard therapy based on enzyme replacement therapy and hematopoietic stem cell transplantation can improve the progression of the disease, particularly when started at young age, but its effect on the growth seems to be limited.…”