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首页> 外文期刊>Cureus. >Tuberous Sclerosis: A Case Report and Review of the Literature
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Tuberous Sclerosis: A Case Report and Review of the Literature

机译：结核硬化症：文献报告和审查

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Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) play a role and result in hamartomas involving many organs, like the brain, heart, kidneys, skin, lungs, and liver. This case report is about a four-year-old boy with facial angiofibromas, hypo-pigmented skin lesions on the lower back and dorsum of the right wrist, and previous history of seizures who was referred to the radiology department of the Korle Bu Teaching Hospital for Magnetic Resonance Imaging (MRI) of the brain. The MRI of the brain revealed subependymal giant cell astrocytomas, subependymal nodules, and cortical tubers. Ultrasonography of the abdomen also showed multiple angiomyolipomas and multiple simple cysts in both kidneys. The aim of this case report is to present the imaging findings and create awareness that this rare genetic disorder does exist in Ghana and advocate for formation of support groups for parents with children with tuberous sclerosis.
机译：肺结核硬化症（TS）是急性血型显性遗传的罕见遗传障碍。两种基因结核硬化复合体1（TSC1）或肿块硬化复合体2（TSC2）中的任何一个都起到了涉及许多器官的角色和结果，如脑，心脏，肾脏，皮肤，肺和肝脏。本案例报告是关于一个四岁的男孩，具有面部血管纤维瘤，右侧背部和背面的乳腺色素皮肤病，以及前面的缉获历史，他被提到Korle Bu教学医院的放射科用于脑的磁共振成像（MRI）。大脑的MRI揭示了基本依赖性巨型细胞星形细胞瘤，子依任性结节和皮质块茎。腹部的超声检查还显示出多种血管血瘤和两个肾脏中的多种简单囊肿。本案报告的目的是展示成像结果，并创造意识，即加纳在加纳存在这种罕见的遗传疾病，并倡导与患有肺结核硬化的父母的父母的支持群体。

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