Bougrine Imad, Berrada Kenza, Houss Salma El, Kettani Najwa Ech-Cherif, Fikri Meriem, Jiddane Mohamed, Taoursa Firdaous
Neuroradiology department- Ibn Sina University hospital, Rabat, Morocco.
Radiol Case Rep. 2024 Jun 15;19(9):3637-3642. doi: 10.1016/j.radcr.2024.05.057. eCollection 2024 Sep.
Tuberous sclerosis complex is a multisystem genetic disease with autosomal dominant inheritance, characterized by the development of benign tumors known as hamartomas that affect multiple organs. It is a condition with a wide phenotypic spectrum, and its clinical presentation varies over time within the same individual. Hence, the importance of early screening and rigorous monitoring of evolving clinical manifestations. Diagnosis can occur at any age. These tumors are generally benign, but their size and location can have a significant impact on the prognosis and, in some cases, even on life expectancy. Cardiac, neurological, and cutaneous manifestations are most common in childhood. The onset of early and severe epilepsy within the first year of life is associated with neurodevelopmental disorders that impact the quality of life for affected individuals and their families. We present a case of a 22-year-old female patient experiencing inaugural epileptic seizures in adulthood, with magnetic resonance imaging revealing subependymal hamartomas, cortical tubers and radial migration bands accompanied by polycystic kidney disease; the diagnosis of tuberous sclerosis complex was established based on the association of these lesions, which constitute major and minor criteria.
结节性硬化症是一种常染色体显性遗传的多系统遗传病，其特征是出现称为错构瘤的良性肿瘤，可累及多个器官。这是一种具有广泛表型谱的疾病，在同一个体内，其临床表现会随时间变化。因此，早期筛查和严格监测不断演变的临床表现非常重要。诊断可发生在任何年龄。这些肿瘤通常是良性的，但其大小和位置可对预后产生重大影响，在某些情况下甚至会影响预期寿命。心脏、神经和皮肤表现在儿童期最为常见。出生后第一年内出现早期严重癫痫与神经发育障碍有关，会影响患者及其家庭的生活质量。我们报告一例22岁成年女性患者首次出现癫痫发作，磁共振成像显示室管膜下错构瘤、皮质结节和放射状移行带，并伴有多囊肾病；根据这些构成主要和次要标准的病变之间的关联，确诊为结节性硬化症。
