Pacheva Iliyana, Panov Georgi, Gillberg Christopher, Neville Brian
*Department of Pediatrics and Medical Genetics, Medical University, Plovdiv, Bulgaria †Neurology and Neurophysiology Unit, Hospital Stoyan Kirkovich, Stara Zagora, Bulgaria ‡Department of Child and Adolescent Psychiatry, Gothenburg University, Gothenburg, Sweden §Neurosciences Unit, Institute of Child Health, University College London, London, UK ∥Young Epilepsy, Lingfield, Surrey, UK.
Cogn Behav Neurol. 2014 Jun;27(2):88-95. doi: 10.1097/WNN.0000000000000026.
Most patients with tuberous sclerosis complex (TSC) suffer from epilepsy, and many have cognitive and behavioral problems like severe intellectual disability, autism, and hyperactivity. Only rare patients with TSC and autism have a normal intelligence quotient. We report a 13-year-old girl with definite TSC who had early-onset severe epilepsy, autistic behavior, and moderate developmental delay. By school age, however, she had normal intelligence; her intelligence quotient was at least 70 based on a Stanford-Binet test that she refused to complete. She showed good reading, writing, and language comprehension skills, and the special abilities of hyperlexia, hypermnesia, and hypercalculia. However, she did not speak. Criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and her Childhood Autism Rating Scale score of 36 indicated mild to moderate autism. She had severe electroencephalographic abnormalities: hypsarrhythmia, multifocal or generalized epileptiform discharges, and electrical status epilepticus during sleep, with a continuous left temporal focus. Magnetic resonance imaging showed many cortical tubers in all brain lobes, and subependymal nodules. We discuss possible explanations for her lack of speech. Considered as speech apraxia, her mutism could be either a symptom of her TSC or a component of her autism. Another possibility is that long-lasting electrical status epilepticus during sleep led to her autistic behavior and language arrest. Still another possibility is that a disinhibited mammalian target of rapamycin (mTOR) pathway was at the root of all of her neuropsychiatric symptoms.
大多数结节性硬化症（TSC）患者患有癫痫，许多患者还存在认知和行为问题，如严重智力残疾、自闭症和多动。只有极少数患有TSC和自闭症的患者智商正常。我们报告了一名13岁明确诊断为TSC的女孩，她有早发性严重癫痫、自闭症行为和中度发育迟缓。然而，到学龄期时，她的智力正常；根据她拒绝完成的斯坦福-比奈测试，她的智商至少为70。她表现出良好的阅读、写作和语言理解能力，以及超常阅读、超强记忆和心算等特殊能力。然而，她不会说话。《精神疾病诊断与统计手册》第4版的标准以及她36分的儿童自闭症评定量表评分表明她患有轻度至中度自闭症。她有严重的脑电图异常：高峰节律紊乱、多灶性或全身性癫痫样放电以及睡眠期间的癫痫持续状态，左侧颞叶有持续病灶。磁共振成像显示所有脑叶有许多皮质结节和室管膜下结节。我们讨论了她不说话的可能原因。她的缄默被认为是言语失用症，可能是TSC的症状，也可能是自闭症的一部分。另一种可能性是睡眠期间长期的癫痫持续状态导致了她的自闭症行为和语言停滞。还有一种可能性是不受抑制的哺乳动物雷帕霉素靶蛋白（mTOR）通路是她所有神经精神症状的根源。
