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四个沙特相关家族中的先天性无痛觉

Congenital insensitivity to pain in four related Saudi families.

作者信息

Karkashan Eman M, Joharji Hanan S, Al-Harbi Naffaa N

机构信息

Department of Dermatology and Venereology, Asir Central Hospital, and Department of Pediatrics, King Khalid University, Abha, Saudi Arabia.

出版信息

Pediatr Dermatol. 2002 Jul-Aug;19(4):333-5. doi: 10.1046/j.1525-1470.2002.00095.x.

Abstract

Congenital insensitivity to pain (hereditary sensory and autonomic neuropathy [HSAN] type V) is a rare disorder of pain perception in which pain sensation is absent from birth, with no other neurologic deficits. We report five Saudi patients (three male and two female) age 10 months to 23 years who lacked pain sensation from birth but have normal appreciation of other sensory modalities. They are from four related families who are descended from one grandfather. The patients had sustained many painless injuries resulting in fractures and disfigurement, but otherwise are completely normal.

摘要

先天性无痛觉(遗传性感觉和自主神经病变[HSAN]V型)是一种罕见的痛觉感知障碍,患者自出生起就没有痛觉,且无其他神经功能缺损。我们报告了5名沙特患者(3名男性和2名女性),年龄在10个月至23岁之间,他们自出生起就缺乏痛觉,但对其他感觉模式的感知正常。他们来自四个相关家族,均为同一祖父的后代。这些患者遭受了许多无痛性损伤,导致骨折和身体畸形,但除此之外完全正常。

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