Zamora Tara G, Roberts Kari D
Department of Pediatrics, University of Minnesota Amplatz Children's Hospital, Minneapolis, Minnesota, USA.
BMJ Case Rep. 2013 Oct 3;2013:bcr2012007826. doi: 10.1136/bcr-2012-007826.
A male infant was born by emergent caesarean section at 39 weeks gestational age secondary to maternal and fetal distress. Initial physical examination was notable for macrocephaly (greater than+2SD), postaxial polydactyly of the hands and facial dysmorphism. Head imaging demonstrated diffuse polymicrogyria without hydrocephalus. All findings were consistent with a diagnosis of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. At the 4-year follow-up, megalencephaly persisted without evidence of hydrocephalus. The child was severely delayed with a stable seizure disorder controlled with dual antiepileptic therapy. This case meets the classic criteria for MPPH syndrome, adding to the limited experience with this disease. The 4-year follow-up and absence of hydrocephalus, once thought to be a key diagnostic criterion, adds to our understanding of the long-term sequelae.
一名男婴在孕39周时因母婴窘迫行急诊剖宫产出生。初次体格检查发现显著特征为巨头畸形（大于+2标准差）、手部轴后多指畸形和面部畸形。头部影像学检查显示弥漫性多小脑回，无脑积水。所有检查结果均符合巨头畸形、多小脑回、轴后多指畸形和脑积水（MPPH）综合征的诊断。在4年随访中，巨头畸形持续存在，无脑积水迹象。该患儿严重发育迟缓，患有稳定的癫痫症，通过双重抗癫痫治疗控制病情。本病例符合MPPH综合征的经典标准，增加了对这种疾病的有限经验。4年的随访以及无脑积水情况（曾被认为是关键诊断标准），加深了我们对其长期后遗症的理解。
