Winchester syndrome
Overview
Winchester syndrome in a rare congenital connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, a coarse face, dissolution of the carpal and tarsal bones (in the hands and feet respectively) and osteoporosis. Appearances resembled rheumatoid arthritis. Increased uronic acid was demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis
Symptoms
* Short stature * Joint contractures * Difficulty mobilising * Joint movement difficulties * Visual difficulties
Causes
* WS is an inherited familial disorder transmitted in an autosomal recessive manner. * Isolated cases without familial occurrence are described. * The molecular causes of the pathologic changes are unknown. Hollister et al4 and Cohen et al11 emphasize the abnormal function of the fibroblasts, which causes some of the pathologic changes in this syndrome.
Diagnosis
Because Winchester syndrome occurs very rarely, it may be difficult to correctly identify. The characteristic bone and joint changes of the syndrome are usually noted when the child is about 1 year old. The painful joints and limited mobility may be mistaken for juvenile rheumatoid arthritis (JRA). A blood test can be done to rule out JRA and other inherited disorders, but there is no specific blood test for Winchester syndrome. Examination of the skeleton by x-ray is the most helpful test to determine if Winchester syndrome exists. Generalized osteoporosis, as well as destruction of bones in the hands and feet, are present. Skin and gum tissue samples (biopsy) are taken and examined under a microscope for changes characteristic of Winchester syndrome.
Treatment
There is no treatment available to stop or reverse Winchester syndrome, so treatment focuses on relieving symptoms. Consultation with specialists such as a rheumatologist (arthritis doctor), an orthopedist (bone doctor), an ophthalmologist (eye doctor), and a dermatologist (skin doctor), among others, will help determine the most effective treatments for each individual.