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Endocrinology

Sheye syndrome

Sheye syndrome (Scheie H. Q., the American doctor was born in 1909; synonym: mukopolisakharidoz the I type at which the lack of a-L-of an iduronidaza is observed). Autosomal and recessive mode of inheritance.
The first symptoms appear at the age of 3 — 6 when restriction of extension of fingers of hands is found. In the subsequent restriction of movements for all joints of upper extremities gradually extends: children badly raise hands up, there is no extension of a brush and fingers, extension in elbow joints is limited. Valgus deformation in the lower extremities is noted.
At teenage age opacification of a cornea is found. Quite often changes from internals come to light. The intelligence is normal, it is sometimes reduced. Growth — on the lower bound of norm. In urine excess quantity of glikozaminoglikan.
Radiological labelloid changes of bodies of vertebrae are found, their height is reduced. The thorax is deformed: edges are thickened in front department, and in back — are thinned; intercostal spaces are narrowed. Clavicles are short. Shovels are thickened, stand above, than normal, knaruzh and rotirovana are displaced. The underdevelopment of upper and lower extremities is found. The macrocephalia, a craniostenosis are observed.
Symptomatic treatment.

 
"Hunter syndrome   Shpaypa syndrome"