Ramteke Vishal V, Darole Pramod A, Shaikh Zohaib Farooqui, Padwal Namita J, Agrawal Brijesh, Shrivastava Makardhwaj S, Kamath Sandhya
Department of Medicine, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, India.
BMJ Case Rep. 2011 May 3;2011:bcr1220103648. doi: 10.1136/bcr.12.2010.3648.
Acrocallosal syndrome is an extremely rare genetic disorder with autosomal recessive inheritance. It is characterised by moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism. The authors report a case of a young hypertensive male who presented with unprovoked seizures for the first time who had multiple craniofacial, digital dysmorphic features with moderate mental retardation. The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.
胼胝体发育不全综合征是一种极为罕见的常染色体隐性遗传疾病。其特征为中度至重度智力发育迟缓、肌张力减退、胼胝体发育不全以及双足和面部特征如宽额头、眼距过宽等的轴前多指畸形。作者报告了一例年轻的高血压男性病例,该患者首次出现无诱因癫痫发作,伴有多种颅面、手指畸形特征及中度智力发育迟缓。经神经影像学检查显示胼胝体发育不全并伴有半球间囊肿后,确诊为胼胝体发育不全综合征。