Ehlers Danlos syndrome–masquerading as primary muscle disease.

Case report

English

Banerjee G, Agarwal RK, Shembesh NM, el Mauhoub M.

Department of Pediatrics, Faculty of Medicine, Al-Arab Medical University, Benghazi, Libya.

Postgrad Med J. 1988 Feb;64(748):126-7.

Abstract

A 9 year old Libyan boy presented with a history of delayed walking and abnormal gait. The presence of marked muscle under-development with hypotonia led to the initial diagnosis of primary muscle disease; later, he was found to have hyperelastic, fragile skin and hypermobile joints-the cardinal features of Ehlers Danlos syndrome. In this instance the disease seems to have been inherited in an autosomal recessive manner.

Keywords: Ehlers Danlos syndrome–masquerading as primary muscle disease.

Link/DOI: http://pmj.bmj.com/cgi/content/abstract/64/748/126