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Endocrinology

Hunter syndrome

Hunter syndrome (synonym: mukopolisakharidoz II type). Inheritance on autosomal recessively type.
Quite often chronic respiratory diseases, noisy breath and complaints to "cold" are found. Rugged features and the voice reminding "horse neighing" are characteristic of this disease. The thorax is deformed, a neck short. Brushes are usually wide, with short fingers, the V finger is often bent in the beam party. The tendency to bending of fingers is gradually noted. Overextension of fingers is not noted. Later flexion contractures appear and accrue. Quickly the brush gets a kogteobrazny form, becomes strong. At the same time there are flexion contractures in shoulder and elbow joints, the child begins to raise badly hands up. There are restrictions of extension of a brush and supination. Possibly, it is result of changes in the sinews and sheaves surrounding a joint. The lower extremities are almost not changed. The insignificant contracture in knee joints and hollow foot is sometimes observed.
At patients at the age of 2 — 6 coordination of movements disappears. Gait is clumsy, children often fall. The patient often shouts, the behavior becomes uneven, aggressive. Obstinacy, sharpness in the address are observed. These children undisciplined, fearless. Food of such children is complicated, they eat firm food hardly. Relative deafness and early osteoarthrites are characteristic of this disease. Quite often there are nodular damages of skin in a thorax, shovels. Opacification of a cornea is observed at children of advanced age. The gepatosplenomegaliya, changes from heart are noted, lungs. Mental retardation is found.
Radiological cubical changes of bodies of vertebrae, decrease in their height come to light. Edges are thickened in front, thinned behind. Clavicles are short. Shovels are thickened, shortened, stand above, than normal, knaruzh are displaced. In the field of brushes small narrowings of proximal departments of metacarpal bones, a hypoplasia of nail phalanxes are noted.
At clinical inspection the excess quantity dermatan-and a geparansulfata with urine is found in patients.
Symptomatic treatment.

 
"Thyroiditis   Sheye syndrome"