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首页> 外文期刊>The Internet Journal of Neurology >Gelastic Seizures In An Infant Without Hypothalamic Hamartoma: A Video Case Report
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Gelastic Seizures In An Infant Without Hypothalamic Hamartoma: A Video Case Report

机译：婴儿无下丘脑血肿的全胶质癫痫发作：视频病例报告

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Gelastic epilepsy or "laughing" seizures are most frequently associated with hypothalamic hamartomas in children and adults. We report what appears to be gelastic seizures in a 5 month old boy without hypothalamic tumor. The patient had focal hydrocephalus of the right lateral ventricle, migrational brain abnormality, septo-optic and hypothalamic dysplasia, and pan hypopituitarism. This case underscores that midline brain abnormalities other than hypothalamic tumors are associated with gelastic seizures. Introduction Gelastic or “laughing” seizures involve repetitive vocalization, often associated with smiling. These seizures are seen in infants, children, and adults, and are most often associated with hypothalamic hamartomas (1). There are rare reports, however, of gelastic epilepsy associated with other brain anomalies (2,3,4) and in patients with an electrographic focus but normal brain MRI (5,6). We report gelastic seizures in an infant with multiple brain anomalies other than hypothalamic hamartoma including hypothalamic dysplasia, agenesis of the corpus callosum, focal hydrocephalus, and migrational abnormalities. Case Report The patient is a five-month-old male infant with recurrent vocalizations during wakefulness and sleep lasting 15 minutes to 2 hours. He was referred for Video EEG monitoring at Riley Hospital for Children after an exhaustive workup for these episodes including a normal 2-day video EEG performed locally, and a flexible bronchoscopy which showed normal vocal cord function at the time of the event. Past medical history showed that the baby was born at term with a birth weight of 3.4 kg. Pregnancy was significant for prolonged rupture of membranes 35 hours prior to delivery. Persistent hypoglycemia within the first week of life prompted an endocrinology investigation which determined the baby to have panhypopituitarism due to low thyroid, cortisol, and growth hormone levels. Brain MRI showed agenesis of the corpus callosum, septo-optic and hypothalamic dysplasia (see Figure 1). Multiple nodular gray matter intensity foci were seen in the periventricular and ventricular lining regions representing nodular heterotopias. Band heterotopias were seen in the bilateral occipital, temporal, and frontal lobes. There was focal hydrocephalus of the right lateral ventricle (see Figure 2). The baby required a ventriculo- peritoneal shunt at one month of age. He was started on phenytoin by a local pediatrician who thought the vocalizations could be seizures. Other medications included levothyroxin, hydrocortisone, ranitidine and desmopressin.
机译：在儿童和成人中，全弹性癫痫或“笑”癫痫最常与下丘脑错构瘤相关。我们报告在一个没有下丘脑肿瘤的5个月大男孩中似乎是癫痫发作。该患者患有右侧脑室局灶性脑积水，大脑移行异常，视神经和下丘脑发育异常以及泛垂体功能减退。该病例强调，下丘脑肿瘤以外的中线脑部异常与弹力性癫痫发作有关。简介弹性或“笑”发作涉及重复发声，通常伴有微笑。这些癫痫发作见于婴儿，儿童和成人，最常与下丘脑错构瘤相关（1）。然而，极少有报道称与其他脑部异常有关的神经胶质性癫痫（2、3、4）以及具有电子照相功能但脑部MRI正常的患者（5、6）。我们报告了患有下丘脑错构瘤以外的多种脑部异常的婴儿的全神志发作，包括下丘脑发育异常，call体发育不全，局灶性脑积水和迁徙异常。病例报告该患者是一个5个月大的男婴，在清醒和睡眠期间反复发声，持续15分钟至2个小时。在对这些发作进行了详尽的检查后，他被送往莱利儿童医院进行视频脑电图监测，包括在当地进行的正常2天视频脑电图检查以及在事件发生时能显示正常声带功能的柔性支气管镜检查。既往病史表明该婴儿足月出生时体重为3.4千克。怀孕对于分娩前35个小时膜的长时间破裂很重要。出生后第一周内的持续性低血糖促使内分泌学研究确定婴儿由于甲状腺，皮质醇和生长激素水平低而患有全垂体功能减退。脑MRI显示showed体发育不全，视光和下丘脑发育不良（见图1）。在代表结节性异位症的脑室和心室衬里区域中发现了多个结节性灰质强度病灶。带状异位症见于双侧枕叶，颞叶和额叶。右侧脑室有局灶性脑积水（见图2）。婴儿在一个月大时需要进行心室腹膜分流。他由一位当地的儿科医生开始服用苯妥英钠，他认为发声可能是癫痫发作。其他药物包括左甲状腺素，氢化可的松，雷尼替丁和去氨加压素。

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