PDF(Pubmed)
Abstract：
Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by hamartomatous growths with unpredictable progression. Diagnosing and managing neonatal tuberous sclerosis can be challenging. We report a rare case of a 30-day-old male born out of a non-consanguineous marriage who presented with poor suckling and persistent abnormal body movement, required prolonged intensive care, and was diagnosed with tuberous sclerosis with multisystem involvement.
摘要：
结节性硬化症是一种罕见的神经皮肤综合征，其特征是错构瘤生长，进展不可预测。诊断和管理新生儿结节性硬化症可能具有挑战性。我们报告了一个罕见的病例，一个30天大的男性出生在非近亲婚姻中，他表现出不良的哺乳和持续的异常身体运动，需要长期的重症监护，并被诊断为结节性硬化症，多系统受累。
