Gropman A L, Barkovich A J, Vezina L G, Conry J A, Dubovsky E C, Packer R J
Department of Neurology, Children's National Medical Center, George Washington University Medical Center, Washington, DC, USA.
Neuropediatrics. 1997 Aug;28(4):198-203. doi: 10.1055/s-2007-973700.
In 1926, Foix, Chavany and Marie described an acquired syndrome of fasciopharyngoglossomasticatory diplegia resulting from bilateral infarction of the anterior operculum. Clinical features consisted of facial diplegia, dysarthria, pseudobulbar palsy, mild to severe mental retardation, and seizures. A developmental form, similar in presentation in adults with MRI findings consisting of bilateral perisylvian cortical malformation consistent with polymicrogyria involving the sylvian fissure and opercular cortex, has been recognized; but few pediatric cases of congenital bilateral perisylvian syndrome (CBPS) have been reported. Over the past four years, we have encountered 12 cases of CBPS presenting in childhood. Age ranges were from 1 week to 11 years with a median of 2.25 years; six were less than two years of age. Seven were male and five female. Ten had bilateral perisylvian polymicrogyria on MRI; two had unilateral perisylvian schizencephaly with contralateral perisylvian polymicrogyria. Clinical manifestations included developmental delay in 7; poor palatal function in 5; hypotonia in 4; arthrogryposis in 4; hemiparesis in 3; apnea in 3; paraparesis in 2; micrognathia in 2; pectus excavatum in 2; quadriparesis in 1; and hearing loss in 1. Seizures occurred in seven (58%) and consisted of infantile spasms (n = 1), generalized tonic-clonic (n = 1), complex partial (n = 2), partial motor (n = 2; 1 with secondary generalization), and febrile convulsions (n = 1). CBPS has different manifestations in the pediatric population than in adults. CBPS is more common than previously thought, is recognizable by MRI and should be suspected clinically in any infant or child presenting with oromotor dysfunction/pseudobulbar signs and developmental delay, especially if there are associated congenital malformations. Epilepsy is not a constant feature in the pediatric presentation and is variable in type and severity.
1926年，福瓦、沙瓦尼和玛丽描述了一种因双侧岛盖前部梗死导致的后天性筋膜咽舌咀嚼性双瘫综合征。临床特征包括面瘫、构音障碍、假性球麻痹、轻度至重度智力发育迟缓以及癫痫发作。已认识到一种发育型，在成人中的表现与MRI结果相似，包括双侧外侧裂周围皮质畸形，符合累及外侧裂和岛盖皮质的多小脑回畸形；但先天性双侧外侧裂综合征（CBPS）的儿科病例报道较少。在过去四年中，我们遇到了12例儿童期出现的CBPS病例。年龄范围从1周龄至11岁，中位数为2.25岁；6例年龄小于2岁。7例为男性，5例为女性。10例MRI显示双侧外侧裂周围多小脑回畸形；2例为单侧外侧裂脑裂畸形伴对侧外侧裂周围多小脑回畸形。临床表现包括7例发育迟缓；5例腭功能不良；4例肌张力减退；4例关节挛缩；3例偏瘫；3例呼吸暂停；2例截瘫；2例小颌畸形；2例漏斗胸；1例四肢瘫；1例听力丧失。7例（58%）发生癫痫发作，包括婴儿痉挛（1例）、全身强直阵挛发作（1例）、复杂部分性发作（2例）、部分运动性发作（2例；1例继发全身发作）和热性惊厥（1例）。CBPS在儿科人群中的表现与成人不同。CBPS比以前认为的更常见，可通过MRI识别，对于任何出现口运动功能障碍/假性球麻痹体征和发育迟缓的婴儿或儿童，尤其是伴有相关先天性畸形时，临床上应怀疑该病。癫痫在儿科表现中并非恒定特征，其类型和严重程度各不相同。
