What this study looked at
Mucopolysaccharidosis type I (MPS I) is a rare inherited metabolic disorder in which early treatment is important for the best outcomes. This case report follows a boy whose short stature and slow growth were among his earliest signs, to show how recognising these features can point endocrinologists towards an MPS I diagnosis.
Key takeaways
- The boy first had hip pain at age 5 and was referred for short stature at age 7, alongside recurrent respiratory infections, sleep apnoea, joint contractures, mild facial changes, scoliosis and an umbilical hernia.
- Despite having many features of the disease, he was not diagnosed with MPS I until age 18, some 11 years after first presenting with short stature.
- The authors describe the path to diagnosis when a child presents with short stature or growth failure together with one or more common signs of attenuated disease.
Why it matters
Greater awareness that short stature and growth failure can signal attenuated MPS I could help paediatric endocrinologists reach the diagnosis sooner, since early identification and treatment significantly reduce the burden of disease.
