ArticleBMC endocrine disorders2018
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.
Article in BMC endocrine disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Mucopolysaccharidosis Type 1 among Children-Neuroradiological Perspective Based on Single Centre Experience and Literature Review.Metabolites · 2023Article
- Surgical Management of Valvular Heart Disease in Mucopolysaccharidoses: A Review of Literature.Biomedicines · 2022Review
- Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities.Medicina (Kaunas, Lithuania) · 2022Article
- Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I.Archives of disease in childhood · 2021Observational
- Analysis of Prevalence, Influencing Factors, and Countermeasures of Short Stature in Children and Adolescents Aged 6∼14 in Furong District, Changsha City, in 2020.Evidence-based complementary and alternative medicine : eCAM · 2021Article
- Best practices, challenges and innovations in pediatrics in 2019.Italian journal of pediatrics · 2020Review
- Diagnosis of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management.Intractable & rare diseases research · 2020Review
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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 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.
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.
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