Background Hurler-Scheie Syndrome is an autosomal recessive mucopolysaccharidois resulting in reduced activity of α-L-iduronidase with accumulation of heparin and dermatan sulphate. Scheie syndrome represents less severely affected form with varied clinical features.
Case Report 5 year female, first born child of 2nd degree consanguineous Egyptian parents, referred for short stature presented with following features.
Length: 88 cm; Upper: Lower segment=1:1.3; weight: 12.3 kg; Head circumference: 51 cm
Protuberant abdomen, mild proptosis, enlarged skull, prominent forehead, low set ears, simian crease, clawed hand, mild kyphosis, strabismus, normal IQ, hepatomegaly.
Investigation: USG: hepatomegaly, Karyotyping normal Mild delay bone age; Elevated TSH, low T4; tissue transglutaminase normal; sweat chloride test normal; ammonia, lactate normal; growth hormone assay normal; Deficient enzyme in fibroblast confirmed diagnosis of Scheie syndrome
Discussion Scheie syndrome is an autosomal recessive, rare lysosomal storage disease, with skeletal deformities and motor delay; described first in 1972; caused by mutations in IDUA gene (4p16.3) leading to partial deficiency in alpha-L-iduronidase enzyme and lysosomal accumulation of dermatan and heparan sulfate. Genetic testing is available. Antenatal diagnosis done by measurement of enzymatic activity in chorionic villus/ amniocytes and by genetic testing (if disease-causing mutation is known). Genetic counselling is recommended. Management is multidisciplinary including physiotherapy (to maintain range of movement); bone marrow or umbilical cord blood transplant (to preserve neurocognition, improve somatic disease and increase survival). Enzyme replacement therapy slows disease progression.
Conclusion Scheie syndrome should be considered in differential diagnosis of disproportionate short stature with dysmorphism, failure to thrive with normal IQ.