Abdel-Salam Ghada M H, Zaki Maha S, Saleem Sahar N, Gaber Khaled R
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Am J Med Genet A. 2008 Nov 15;146A(22):2929-36. doi: 10.1002/ajmg.a.32549.
We report on five sibs affected by congenital microcephaly, growth retardation, sloping forehead, bitemporal grooving and micrognathia. Generalized tonic-clonic seizures started very early in life. Postnatal brain computerized tomography (CT) presented cortical band-like calcification, calcification of basal ganglia and brain stem while brain magnetic resonance imaging (MRI) revealed abnormal gyral pattern, marked loss of white matter, dysplastic ventricles, polymicrogyria, hypogenesis of corpus callosum and cerebellar hypoplasia. No abnormalities of the internal organs, eye, or skeleton were found to be associated with this syndrome. Fetal Magnetic resonance imaging helped reaching the diagnosis in utero in one patient. Three patients died in the first years of life while the others within days after birth preceded by high fever and status epilepticus. These patients present many overlapping features with pseudo TORCH syndrome, however, the imaging findings are quite different. We propose that the distinct pattern in these sibs constitutes genetic disorder of microcephaly, developmental brain malformation and intracranial calcification of likely autosomal recessive inheritance.
我们报告了五名患有先天性小头畸形、生长发育迟缓、前额倾斜、双侧颞部沟回和小颌畸形的同胞。全身性强直阵挛发作在生命早期就开始了。出生后脑计算机断层扫描（CT）显示皮质带状钙化、基底节和脑干钙化，而脑磁共振成像（MRI）显示脑回模式异常、白质明显减少、脑室发育异常、多小脑回、胼胝体发育不全和小脑发育不全。未发现该综合征与内脏、眼睛或骨骼的异常有关。胎儿磁共振成像帮助其中一名患者在子宫内确诊。三名患者在生命的头几年死亡，其他患者在出生后几天内死亡，死前伴有高热和癫痫持续状态。这些患者与假性TORCH综合征有许多重叠特征，然而，影像学表现却大不相同。我们认为这些同胞中独特的模式构成了可能为常染色体隐性遗传的小头畸形、发育性脑畸形和颅内钙化的遗传性疾病。
