Shrestha Abhigan Babu, Shrestha Sajina, Seemanta Senjuti, Pokharel Pashupati, Alam Waqar
Department of Internal Medicine, M Abdur Rahim Medical College, Dinajpur, Bangladesh.
Department of Internal Medicine, KIST Medical College, Imadol, Patan, Nepal.
Ann Med Surg (Lond). 2022 May 11;78:103738. doi: 10.1016/j.amsu.2022.103738. eCollection 2022 Jun.
Tuberous sclerosis or Bourneville's disease is a rare autosomal dominant disease affecting many organs like the brain, heart, lungs, eyes, kidneys and skin. It is characterized by neurological manifestation like epilepsy, cutaneous changes and the formation of benign lesions in multiple organs. The symptoms are apparent only in late childhood, which limits the early diagnosis in infancy. Here, we report a case of a 15 year old female child with tuberous sclerosis.
结节性硬化症或博恩维尔病是一种罕见的常染色体显性疾病,可影响多个器官,如大脑、心脏、肺、眼睛、肾脏和皮肤。其特征为神经学表现,如癫痫、皮肤变化以及多个器官中良性病变的形成。症状仅在儿童晚期才明显,这限制了婴儿期的早期诊断。在此,我们报告一例15岁患结节性硬化症的女童病例。