source: Indian journal of pediatrics

year: 2021

authors: Khurana S,Gupta PC,Behera RK,Singh H,Ram J

A 10-y-old ‘short-statured’ male presented to us with decreased vision in both the eyes since birth. Ocular examination revealed cloudy corneas in both the eyes (Fig. 1a, b). Family history was unremarkable. Suspecting it to be mucopolysaccharidosis, the child was referred to a pediatrician. Systemic examination revealed global developmental delay, short stature, abdominal distension, umbilical hernia, and hepatosplenomegaly with dysmorphic facial features like frontal bossing, saddle nose, wide mouth, and macroglossia. As the patient had frank corneal clouding, skeletal dysplasia, umbilical hernia, and intellectual impairment, he was most likely to have mucopolysaccharidosis type I, Hurler syndrome. The child was planned for sequential penetrating keratoplasty. For the disorder, the option of enzyme replacement therapy was discussed with the parents, but could not be materialized because of financial constraints.

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