Schulman H, Tsodikow V, Einhorn M, Levy Y, Shorer Z, Hertzanu Y
Department of Radiology, Soroka University Medical Centre, Ben-Gurion University of the Negev, P. O. Box 151, Beer-Sheva 84101, Israel.
Pediatr Radiol. 2001 Oct;31(10):701-5. doi: 10.1007/s002470100506.
Congenital insensitivity to pain with anhidrosis (CIPA) is an exceedingly rare, hereditary, sensory autonomic neuropathy (HSAN).
To evaluate the various skeletal manifestations and cranial CT features in children affected by CIPA.
In the semidesert area of the Negev, the Bedouin tribes constitute a closed society where consanguineous marriages are the custom. This has resulted in a group of 20 children being affected by this rare autosomal recessive HSAN. The skeletal surveys and CT scans of these 20 Bedouin patients, 12 girls and 8 boys, ages ranging between 1 month and 8 years, were retrospectively analysed. Cranial CT scans were performed in ten children because of neonatal hypotonia and psychomotor retardation. The skeletal findings were classified as follows: fractures, joint deformities, joint dislocations, osteomyelitis, avascular necrosis and acro-osteolysis.
All 20 patients had fractures of the extremities and acro-osteolysis of the fingers. Six had joint deformities. Three children had recurrent hip joint dislocations and another three had avascular necrosis. Ten patients presented with osteomyelitis of the limbs, acetabulum and scapula. The cranial CT scans disclosed mild brain volume loss with some ventriculomegaly.
CIPA is a severe autosomal recessive condition that leads to self-mutilation early in life and to fractures, osteomyelitis and limb amputation in older children. Mental retardation is common. Death from hyperpyrexia occurs in almost 20 % of patients in the first 3 years of life.
先天性无痛觉伴无汗症（CIPA）是一种极其罕见的遗传性感觉自主神经病（HSAN）。
评估受CIPA影响儿童的各种骨骼表现和头颅CT特征。
在内盖夫的半沙漠地区，贝都因部落构成一个封闭的社会，近亲结婚是习俗。这导致一组20名儿童受这种罕见的常染色体隐性HSAN影响。对这20名贝都因患者（12名女孩和8名男孩，年龄在1个月至8岁之间）的骨骼检查和CT扫描进行回顾性分析。由于新生儿肌张力减退和精神运动发育迟缓，对10名儿童进行了头颅CT扫描。骨骼检查结果分类如下：骨折、关节畸形、关节脱位、骨髓炎、缺血性坏死和肢端骨质溶解。
所有20例患者均有四肢骨折和手指肢端骨质溶解。6例有关节畸形。3例儿童反复出现髋关节脱位，另外3例有缺血性坏死。10例患者出现四肢、髋臼和肩胛骨骨髓炎。头颅CT扫描显示轻度脑容量减少和一些脑室扩大。
CIPA是一种严重的常染色体隐性疾病，在生命早期导致自残，在大龄儿童中导致骨折、骨髓炎和肢体截肢。智力发育迟缓很常见。近20%的患者在生命的前3年死于高热。
