Tuesday, November 9, 2010

硬化性結節症(tuberous sclerosis)


10 一位4個月大男嬰因抽搐被送至急診,身體檢查發現低肌肉張力(hypotonia),且軀幹皮膚有些低色素斑(hypopigmented skin lesions);腦部超音波檢查發現腦室周圍有許多鈣化之小結節。則其最常合併之心臟異常為:
心肌瘤(rhabdomyoma) 心室中隔缺損(ventricular septal defect)
肥厚型心肌病變(hypertrophic cardiomyopathy) 心臟纖維瘤(fibroma)

this is a case of 硬化性結節症(tuberous sclerosis)





A rhabdomyoma is a benign tumor of striated muscle. Cardiac rhabdomyomas are the most common primary tumor of the heart in infants and children.

It has an association with tuberous sclerosis.[1]

It is most commonly associated with the tongue[2] and heart,[3] but can also occur in other locations.

The malignant form of rhabdomyoma is called rhabdomyosarcoma.





http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?offset=30&cat3=301



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