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Journal: University Journal of Medicine and Medical Specialities (Vol.2, No. 7)

Publication Date:

Authors : ;

Page : 158-168

Keywords : :auto-amputation; hereditary sensory autonomic neuropathy; hypopituitarism;

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An article appeared in a popular tamil weekly, about two siblings in a village near Kancheepuram who had progressive auto-amputation of all digits. As a consequence, they were admitted in our hospital and were evaluated. History revealed that they had a younger sister who also had similar disease, which progressed and she died. Clinical examination revealed that the elder one had relatively normal fingers of both hands and auto-absorbed toes of both feet, and deep ulcers with secondary infection. The younger one had more severe deformities, affecting both upper and lower limbs with auto-absorption of almost all digits. Both of them also had stunted growth, Dry skin, absent axillary hairs, sparse pubic hairs and soft testes. They were extensively investigated and were found to have sensory neuropathy and abnormal levels of pituitary hormones. Biopsy of peripheral nerveswas done which was reported as HEREDITARY SENSORY AUTONOMIC NEUROPATHY, and hormone assay confirmed hypopituitarism. The case report is presented because of the progressive nature of the disease, limited management options, good scope for research, rarity of the disease itself and its rare association with hypopituitarism.

Last modified: 2017-01-11 18:54:28