Hematopoietic stem cell transplantation in children and adolescents with malignant disease.

A 1-year-old child is referred to your office for a developmental assessment due to delayed speech and gross motor skills. You notice coarse facial features and on physical examination document corneal clouding, hepatosplenomegaly, and numerous skeletal deformities. You suspect a metabolic disorder and request an urgent referral to a metabolic specialist. The specialist clinically diagnoses Hurler syndrome (mucopolysaccharidosis IH) and confirms a-L-iduronidase deficiency with urinary glycosaminoglycan testing and subsequently by enzyme AUTHOR DISCLOSURE Dr Guilcher has disclosed no financial relationships relevant to this article. This commentary does contain a discussion of an unapproved/investigative use of a commercial product/device.