A case of hereditary sensory autonomic neuropathy type IV

Autor:	G P Prashanth, Mahesh Kamate
Jazyk:	angličtina
Rok vydání:	2012
Předmět:	Hereditary sensory autonomic neuropathy insensitivity to pain self-mutilation Neurology. Diseases of the nervous system RC346-429
Zdroj:	Annals of Indian Academy of Neurology, Vol 15, Iss 2, Pp 134-136 (2012)
Druh dokumentu:	article
ISSN:	0972-2327 1998-3549
DOI:	10.4103/0972-2327.94999
Popis:	Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation. Developmental delay and mental retardation are usually present. Ultrastructural study of the peripheral nerves demonstrates loss of the unmyelinated and small myelinated fibers. We here report a 8 year -old boy with HSAN IV with typical clinical features where the diagnosis was supported by nerve biopsy findings. However, our case was unusual since mental development was normal.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/292608770faf4c9c9eac1f1e4781a248 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF