Dedushi Kreshnike, Hyseni Fjolla, Musa Juna, Saliaj Kristi, Vokshi Valon, Guy Ali, Bhatti Atiq, Tahir Muhammad, Shatri Jeton, Dervishi Bardha, Shabani Krenare, Shatri Mentor
Clinic of radiology, University Clinical Center of Kosovo.
Research Fellow, NYU Langone Health, New York, USA.
Radiol Case Rep. 2021 Dec 3;17(2):399-403. doi: 10.1016/j.radcr.2021.11.007. eCollection 2022 Feb.
Tuberous sclerosis complex (TSC) is an inherited, multisystemic, hamartomatous neurocutaneous disorder, with an autosomal dominant inheritance pattern. It affects multiple organs, however the most susceptible ones include the brain, skin, kidneys, lungs, the retina, and the heart. TSC is characterized by considerable clinical heterogeneity. The majority of patients present with a constellation of clinical signs and symptoms, most prominently central nervous system manifestations including epilepsy, cognitive impairment and autism spectrum disorders, cutaneous, cardiac, renal and ophthalmic manifestations. Epilepsy affects 70% - 90% of patients, representing the primary neurological feature and 1 of the foremost clinical findings of the disorder. Cardiac rhabdomyomas are the most frequent cardiac manifestations, appearing as isolated or multiple lesions. Herein, we present 2 patients diagnosed with tuberous sclerosis. A 3-month-old male patient with cardiac rhabdomyomas and hypopigmented macules and a 19-month-old male patient with partial epilepsy and mild psychomotor retardation. As brain lesions represent some of the most prevalent clinical features and early onset seizures are associated with more severe cognitive, function delay, through this article we hope to emphasize the potential role MRI can play in the diagnostic workup of TSC, to ensure a more timely diagnosis, thus modifying the natural course of the disorder and its prognosis.
结节性硬化症(TSC)是一种遗传性多系统错构瘤性神经皮肤疾病,呈常染色体显性遗传模式。它会影响多个器官,然而最易受累的器官包括脑、皮肤、肾脏、肺、视网膜和心脏。TSC具有显著的临床异质性。大多数患者会出现一系列临床体征和症状,最突出的是中枢神经系统表现,包括癫痫、认知障碍和自闭症谱系障碍,以及皮肤、心脏、肾脏和眼部表现。癫痫影响70% - 90%的患者,是该疾病的主要神经学特征和最重要的临床发现之一。心脏横纹肌瘤是最常见的心脏表现,表现为孤立或多发病变。在此,我们介绍2例诊断为结节性硬化症的患者。1例3个月大的男性患者患有心脏横纹肌瘤和色素减退斑,另1例19个月大的男性患者患有部分性癫痫和轻度精神运动发育迟缓。由于脑部病变是一些最常见的临床特征,且早发性癫痫与更严重的认知、功能延迟相关,通过本文我们希望强调MRI在TSC诊断检查中可能发挥 的作用,以确保更及时的诊断,从而改变该疾病的自然病程及其预后。