Weerasinghe Sanjeeva, Sato Takashi S
Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Department of Radiology, Stead Family Children's Hospital, University of Iowa, 200 Hawkins Dr. 3889 JPP, Iowa City, IA 52242 USA.
Radiol Case Rep. 2020 Dec 18;16(3):497-499. doi: 10.1016/j.radcr.2020.12.033. eCollection 2021 Mar.
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by multiple tumors throughout the body. Supratentorial hamartomas (or tubers), are a very common CNS feature of TSC. Cerebellar tubers are much less common in TSC. We present an interesting case of cerebellar tuber in a 14-year-old patient with TSC, highlighting clinical and diagnostic criteria for TSC and review the unique features of cerebellar tubers, differentiating these lesions from their more common supratentorial counterparts. This case serves as an educational tool to improve awareness of cerebellar tubers in patients with tuberous sclerosis.
结节性硬化症（TSC）是一种罕见的常染色体显性疾病，其特征是全身多处出现肿瘤。幕上错构瘤（或结节）是TSC非常常见的中枢神经系统特征。小脑结节在TSC中则要少见得多。我们报告了一例14岁TSC患者出现小脑结节的有趣病例，强调了TSC的临床和诊断标准，并回顾了小脑结节的独特特征，将这些病变与其更常见的幕上对应物区分开来。该病例可作为一种教育工具，以提高对结节性硬化症患者小脑结节的认识。
