Hurler-Scheie syndrome with subclinical hypothyroidism: A case report

International Journal of Biomedical and Advance Research

Parthasarathy Mohanalakshmi¹  Madhubala V.¹  Malliga S.¹ 

关键词: Hurler-Scheie;    mucopolysaccharidoses;    L-iduronidase;   

DOI  :  10.7439/ijbar.v5i4.683

学科分类：药学、药理学、毒理学（综合）

来源: Scholar Science Journals

【 摘 要 】

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.?

【 授权许可】

CC BY