Familial progressive neuronal disease and chronic idiopathic intestinal pseudo-obstruction.
Chronic idiopathic intestinal pseudo-obstruction (CIIP) is characterized by recurrent episodes of bowel obstruction without mechanical cause. In five members of two Jewish-Iranian families, CIIP was associated with progressive neuronal disease, starting before age 30, with ophthalmoplegia, sensorimotor peripheral neuropathy, and hearing loss. There was no evidence of CNS involvement. The pattern suggested autosomal recessive inheritance.
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000150:complications* / Q000235:genetics; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000235:genetics