Scheie syndrome in Child
Scheie syndrome is caused by mutations in the IDUA gene. Ocular manifestations of the disease include corneal opacification that occurs progressively and diffusely (usually after age 4) and glaucoma. Patients may also present with coarsening of the facial features, such as a large mouth and thickening of lips. Some patients may present with nasal discharge, sensorineural hearing loss, joint stiffness, minor skeletal changes, and carpal tunnel syndrome. In certain cases, aortic valve disease may be present. Compression of the cervical spinal cord may lead to spastic paresis if not corrected by early neurosurgical intervention.
Treatment requires a multidisciplinary team and, if carried out early, should slow the progression of disease. Enzyme replacement therapy is suggested upon confirmation of diagnosis and may benefit patients waiting for hematopoietic stem cell transplantation. Life expectancy of Scheie syndrome patients is only slightly affected.
E76.03 – Scheie's syndrome
73123008 – Mucopolysaccharidosis type I-S