Elia Maurizio, Striano Pasquale, Fichera Marco, Gaggero Roberto, Castiglia Lucia, Galesi Ornella, Malacarne Michela, Pierluigi Mauro, Amato Carmelo, Musumeci Sebastiano A, Romano Corrado, Majore Silvia, Grammatico Paola, Zara Federico, Striano Salvatore, Faravelli Francesca
Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Enna, Italy.
Epilepsia. 2006 May;47(5):830-8. doi: 10.1111/j.1528-1167.2006.00522.x.
Mental retardation, facial dysmorphisms, and neurologic and brain abnormalities are features of 6q terminal deletions. Epilepsy is frequently associated with this chromosome abnormality, but electroclinical findings are not well delineated. We report five unrelated patients with 6q terminal deletions and a peculiar clinical, EEG, and neuroradiologic picture of epilepsy, mental retardation, and colpocephaly.
These three male and two female patients underwent general and neurologic examinations, repeated awake and sleep EEGs, and brain magnetic resonance imaging (MRI). A cytogenetic study and fluorescent in situ hybridization (FISH) with chromosome-specific subtelomeric probes were carried out in all cases.
All subjects had seizures characterized by vomiting, cyanosis, and head and eye version, with and without loss of consciousness. In four cases, EEGs showed posterior spike-and-wave complexes, which were activated by sleep. No patient had status epilepticus or prolonged seizures. Brain MRI revealed colpocephaly and dysgenesis of the corpus callosum and brainstem in four patients; three of them also had hypertrophic massa intermedia. FISH analysis revealed a 6q terminal deletion in all patients, which ranged between 9 Mb (cases 2 and 3) and 16 Mb (case 4).
We suggest that epilepsy associated with 6q terminal deletions is a new entity. Patients with dysmorphic features associated with focal occipital epilepsy, colpocephaly, and dysgenesis of the corpus callosum, thalami, and brainstem should be considered candidates for testing for 6q subtelomere deletions.
智力发育迟缓、面部畸形以及神经和脑部异常是6q末端缺失的特征。癫痫常与这种染色体异常相关，但电临床发现尚未明确界定。我们报告了5例无亲缘关系的6q末端缺失患者，他们具有癫痫、智力发育迟缓及脑室后角扩大的独特临床、脑电图和神经放射学表现。
这3名男性和2名女性患者接受了全身和神经系统检查、多次清醒及睡眠脑电图检查以及脑磁共振成像（MRI）。所有病例均进行了细胞遗传学研究和使用染色体特异性亚端粒探针的荧光原位杂交（FISH）。
所有患者的癫痫发作均以呕吐、发绀以及头和眼转向为特征，伴有或不伴有意识丧失。4例患者脑电图显示后头部棘慢复合波，睡眠时被激活。无患者发生癫痫持续状态或长时间发作。脑MRI显示4例患者有脑室后角扩大、胼胝体和脑干发育不全；其中3例还伴有中间块肥大。FISH分析显示所有患者均存在6q末端缺失，缺失范围在9 Mb（病例2和3）至16 Mb（病例4）之间。
我们认为与6q末端缺失相关的癫痫是一种新的疾病实体。对于伴有畸形特征、局灶性枕叶癫痫、脑室后角扩大以及胼胝体、丘脑和脑干发育不全的患者，应考虑进行6q亚端粒缺失检测。
