source: BMJ case reports

year: 2021

authors: Sharma R,Sharma V,Tiwari T,Goyal S

A 16-year-old male presented to our hospital with complaints of mild mental retardation, umbilical and bilateral inguinal hernias, distended abdomen, profound bilateral hearing loss and recent onset seizures. On physical examination, he had a short stature, thick rough skin, depressed nasal bridge, macroglossia, macrocephaly, hypertrichosis and fixed joint abnormalities with contractures and scoliosis. No family history of a related syndrome was present on either the paternal side or the maternal side.

The patient underwent ultrasonography of the abdomen, which revealed moderate hepatosplenomegaly, and umbilical and bilateral inguinal hernias. The patient underwent a urine spot test for mucopolysaccharidosis (MPS) type II screening, which came positive. Confirmatory analysis was performed by enzyme assay, which revealed diminished activity of iduronate 2-sulfatase enzyme in plasma at 1.2 mol/L/hour (reference value: >2 mol/L/hour).

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