Hurler-Scheie syndrome with subclinical hypothyroidism: A case report

Abstract

Hurler-Scheie syndrome is an intermediate form of mucopolysaccharidosis (I H/S) and an autosomal recessive disorder caused by the deficiency of the enzyme L-iduronidase. We present the case report of a 7-year-old girl referred to us for evaluation of developmental delay with difficulty in walking, first detected at an age of 5 years. She was born to consanguineous parents with no family history of mucopolysaccharidoses. She had coarse facial features, short stature, hepatomegaly and her X-ray findings were consistent with mild form of dysostosis multiplex. Enzyme assay revealed deficient alpha-L-iduronidase activity in leukocytes. In addition to Hurler-Scheie syndrome, thyroid function tests indicated subclinical hypothyroidism with normal titers of thyroid microsomal and thyroglobulin antibodies. Hurler-Scheie syndrome with suclinical hypothyroidism is uncommon and has not been reported as yet.