neuro-genetic correlations in four siblings with chronic limb ulcers and amputations resulting from hereditary sensory and autonomic neuropathy type 2
نویسندگان
چکیده
hereditary sensory and autonomic neuropathies (hsan) are clinically and genetically a heterogeneous group of disorders. there are overlapping variants of hsan regarding clinical manifestations and pathologic findings. five types of hsan have been described by dyck (1993) and there are two other types which have been introduced recently. we report four siblings that seem to suffer from symptomatic hsan ii, the progressive form of autosomal recessive sensory neuropathy, and our findings emphasize the neurogenetic correlations and clinical heterogeneity of hsan.
منابع مشابه
Hereditary sensory and autonomic neuropathy: A case report
A 24-year old female patient with the history of pressure ulcers in distal extremities resulted in severe deformity will be reported. Her disease started when she was 9 years old and a similar history was found in her brother. In physical examination, pain and temperature sensations were impaired in distal extremities. Nerve conduction velocity showed impaired sensory and normal motor responses...
متن کاملHereditary sensory and autonomic neuropathy type I.
Hereditary sensory and autonomic neuropathy (HSAN) type 1 is a rare hereditary neurological disorder. Two brothers aged 17 and 14 years had HSAN type 1 as both had big ulcers on feet, mutilation, dissociated anaesthesia, absent ankle jerks and normal hands. Probably these are first cases of HSAN type 1 in Indian literature.
متن کاملHereditary sensory and autonomic neuropathy type IV.
Several types of hereditary sensory and autonomic neuropathies (HSAN) are reported in literatures. We describe here a case of type IV HSAN, the second commonest variety of HSAN and attempt to present a short review of literature. Families of these children need support, proper guidance and counseling for taking better care of the diseased. The goal should be to help them achieve independent fun...
متن کاملHereditary sensory and autonomic neuropathy type II.
Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN2. In some affected people, the condition may also cause mild abnormalities of the autonomic nervous system, which controls i...
متن کاملHereditary sensory autonomic neuropathy Type IV.
Hereditary sensory autonomic neuropathy Type IV is an autosomal recessive disorder due to lack of maturation of small myelinated and unmyelinated fibers of peripheral nerves, which convey sensation of pain and temperature, therefore, resulting in self mutilation. There is anhidrosis due to lack of innervation of normal sweat glands resulting in recurrent episodes of hyperpyrexia. The clinical p...
متن کاملhereditary sensory and autonomic neuropathy type iv in 9 year old boy: a case report
how to cite this article: azadvari m, emami razavi sz, kazemi sh. hereditary sensory and autonomic neuropathy type iv in 9 year old boy: a case report. iran j child neurol. spring 2016; 10(2):83-85. abstract objective the hereditary sensory and autonomic neuropathy (hsan) is a rare group of neuropathies that affects the sensory and autonomic nervous system. the patients do not have the ability ...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
genetics in the 3rd millenniumجلد ۷، شماره ۳، صفحات ۱۷۸۰-۱۷۸۰
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023