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结节性硬化病临床上少见,现报告1例如下。病历摘要患者女,23岁。因鼻颊部暗红色结节样肿物及发作性全身抽搐19年、鼻塞半年于1984年4月3日入院。患者4岁时颜面部出现暗红色丘疹结节,尤以鼻部为多,初仅绿豆大小,生长缓慢。同时伴发作性全身抽搐,神志不清,口歪眼斜等,每次数分钟。曾在某院诊为“癫痫”,长期口服苯妥英钠,可以制止抽搐发作。但鼻部肿物近半年生长较快并引起鼻塞。口鼻有难闻的臭味,智力较差。家族中无类似病史者,父母及4兄1妹均健在。体检:体温正常,血压100/60mmHg,心率84/分。全身发育好,但智力不及5岁儿童。心肺听诊无异常发现,心界无扩大。腹软,肝脾
Tuberous sclerosis is clinically rare, 1 is reported below. Patient history Female, 23 years old. Due to nasal cheek dark red nodular mass and seizures of generalized convulsions for 19 years, half a year in April 1984 April 3 admission. Patient 4 years old appeared dark red papules nodules, especially in the nose as much as early only the size of green beans, growth is slow. Accompanied by generalized convulsions, confusion, mouth crooked eye oblique, every few minutes. In a hospital diagnosed as “epilepsy”, long-term oral phenytoin sodium, can stop the seizures. However, nearly half of nasal tumor growth and cause nasal congestion. Smelly mouth and nose odor, mental retardation. No similar family history, parents and 4 brothers and 1 sister are alive. Physical examination: normal body temperature, blood pressure 100 / 60mmHg, heart rate 84 / min. Good body, but not as good as 5-year-old children. Cardiopulmonary auscultation no abnormal findings, no expansion of the heart. Abdominal soft, liver and spleen