Neurocutaneous syndrome of 13 cases.docVIP

 PAGE \* MERGEFORMAT 11 Neurocutaneous syndrome of 13 cases [Keywords:] neural analysis of skin syndrome Neurocutaneous syndrome (neurocutaneous syndrome, NCS) is caused by the development of ectodermal tissues and organs. Lesions involving the nervous system (brain and peripheral nerves), skin and other internal organs, often referred to as stains of wrong configuration disease disease or congenital nevus [1]. an autosomal dominant genetic disease. clinical features is a multi-system, multi-organ damage. are common neurofibromatosis (neurofibromatosis), tuberous sclerosis (tuberous sclerosis compiex) and brain surface angiomatosis . prevalence was low, about 3 / 100000 5 / 10 million. In this paper, from 1989 to 2008, the First Affiliated Hospital of Xi’an Jiaotong University, China Railway Twenty Board of Pediatrics and the Central Hospital of Pediatrics and the family of hospitalized children were retrospectively analyzed clinical data on diagnosis of NCS 13 .20 cases reported below. Clinical data 1. Clinical manifestations: 7 males and 6 females. 10 cases in children, adults in 3 cases. Minimum age of 3 months treatment, the maximum age of 37. In which 6 cases of tuberous sclerosis, neurofibromatosis in 4 cases, vascular Liu Bing 3; first symptom of epilepsy in 9 cases, 2 cases of mental retardation, facial sebaceous gland tumor in 2 cases, 2 cases of skin neurofibromas, cafe au lait spots of skin in 1 case, 1 case of axillary and inguinal freckles. Each patient had 1 species or a few skin lesions, the most common spots where coffee milk, may be combined or alone depigmentation spots, followed by sebaceous gland tumors and facial telangiectasia and so on. 13 patients, 6 patients in mental retardation, including epilepsy, 4 cases of mental retardation, mental retardation alone, 2 cases of epilepsy alone in 5 patients, 2 patients without neurological symptoms; a special appearance in 1 case in .13 cases 3 families genetic relationship, in which