Kremer Stéphane, Minotti Lorella, Thiriaux Anne, Grand Sylvie, Satre Véronique, Le Bas Jean-François, Kahane Philippe
Magnetic Resonance Imaging Unit, Michallon University Hospital, Grenoble, France.
Epileptic Disord. 2003 Mar;5(1):27-30.
We report the case of a 29-year-old patient, who suffered from drug resistant laughing seizures since childhood. The clinical examination was normal, except for sequelae of hand and feet surgery during infancy for post-axial polydactyly. Cerebral MRI showed a hypothalamic hamartoma. The association of complex limb abnormalities with hypothalamic hamartoma lead to the diagnosis of Pallister-Hall syndrome. This syndrome is related to a mutation of gene GLI3, located on chromosome 7p13, and its inheritance is autosomal dominant. In the case of laughing seizures, a cerebral MRI should be performed to look for a hypothalamic hamartoma. The observation of such lesions indicates the necessity of standard radiographies of the hands and feet, to search for associated abnormalities. These findings might help to recognize a Pallister-Hall syndrome, thus allowing genetic counseling.
我们报告了一例29岁患者的病例，该患者自童年起就患有耐药性痴笑发作。除了婴儿期因轴后多指畸形进行手足手术后留下的后遗症外，临床检查正常。脑部磁共振成像（MRI）显示有下丘脑错构瘤。复杂的肢体异常与下丘脑错构瘤同时出现，导致诊断为帕利斯特-霍尔综合征。该综合征与位于7号染色体p13上的GLI3基因突变有关，其遗传方式为常染色体显性遗传。对于痴笑发作的病例，应进行脑部MRI检查以寻找下丘脑错构瘤。发现此类病变表明有必要对手足进行标准的X线检查，以寻找相关异常。这些发现可能有助于识别帕利斯特-霍尔综合征，从而进行遗传咨询。
