Castro Ana, Rodrigues Nádia, Pereira Marco, Gonçalves Cláudia
Pediatrics Department, Hospital Pedro Hispano, Matosinhos, Portugal.
BMJ Case Rep. 2011 Nov 23;2011:bcr0920114860. doi: 10.1136/bcr.09.2011.4860.
Polymicrogyria (PMG) is a malformation of cortical development due to an abnormal organisation. It is a heterogeneous disorder associated with genetic and acquired events, namely 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS) /velocardiofacial syndrome (VCFS) among others. This association has been known since 1996 and more than 30 cases have been described. Neurological features include motor and cognitive impairment, epilepsy, microcephaly and spasticity. The authors present an 8-month old infant with minor dysmorphic features, microcephaly, global psychomotor retardation and epilepsy. Brain MRI revealed diffuse bilateral PMG. The 22q11.2 deletion was confirmed by fluorescent in situ hybridisation (FISH). The child had no other manifestation of DGS/VCFS. paediatricians, neuropaediatricians, development specialists and geneticists should be aware that in the presence of PMG, especially when bilateral, 22q11.2 deletion should be investigated, even in the absence of the typical features of DGS/VCFS. On the other hand, in children with 22q11.2 deletion, brain malformations should be ruled out.
多小脑回畸形（PMG）是一种由于组织异常导致的皮质发育畸形。它是一种异质性疾病，与遗传和后天因素有关，其中包括22q11.2缺失综合征，也称为迪乔治综合征（DGS）/心脏颜面综合征（VCFS）等。自1996年以来人们就知道这种关联，并且已经描述了30多例病例。神经学特征包括运动和认知障碍、癫痫、小头畸形和痉挛。作者报告了一名8个月大的婴儿，有轻微的畸形特征、小头畸形、全面精神运动发育迟缓及癫痫。脑部磁共振成像（MRI）显示双侧弥漫性多小脑回畸形。荧光原位杂交（FISH）证实存在22q11.2缺失。该患儿没有迪乔治综合征/心脏颜面综合征的其他表现。儿科医生、神经儿科医生、发育专家和遗传学家应意识到，在有多小脑回畸形的情况下，尤其是双侧受累时，即使没有迪乔治综合征/心脏颜面综合征的典型特征，也应调查是否存在22q11 .2缺失。另一方面，对于有22q11.2缺失的儿童，应排除脑部畸形。
