Saturday, March 7, 2009

Case: Mucopolysaccharidosis with cardiomyopathy and repeated respiratory infections

A boy of 5 years of consanguinous parents from Chittagong presented with dysmorphic facies, gross developmental delay, growth failure, deformity of the limbs and repeated respiratory infections.

He has cardiomegaly and initially had murmers which later disappeared and has moderate hepatospenomegaly, kyphoscoliosis.Visoin and hearing not impaired.

His blood picure is normal. Radiology shows cardiomegaly,spatula shaped ribs and diaphysial broadening of the long bones.

Echo showed on 27/8/06 AV canal defect(partial), cleft AML and grade II MR. Later on 3/10/07 it shows normal finding.

Enzyme assay is not available in Bagladesh and patient could not afford to go abroad for further evaluation and better managment.

Patient is diagnosed as Mucopolysaccharidosis likely Hurler's syndrome.

Patient is on symptomatic treatment.

badrud doza


Wikipedia- Mucopolysaccharidosis

E-medicine - Mucopolysaccharidosis Type I/H