Nigri Flavio, Cabral Isaias Fiuza, da Silva Raquel Tavares Boy, Pereira Heloisa Viscaíno, Ribeiro Carlos Roberto Telles
Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
Case Rep Neurol. 2014 May 14;6(2):156-60. doi: 10.1159/000363179. eCollection 2014 May.
The association of Down syndrome (DS) with Dandy Walker malformation (DWM) is extremely rare, with only 3 cases reported to date. All cases reported have shown a bad life expectancy and a bad developmental outcome. The present case reveals the possibility of a good prognosis. A 19-month-old male patient had successful endoscopic hydrocephalus treatment and a good developmental outcome. He probably had a better outcome because of good DS and DWM prognostic parameters. Our patient suffered from a DWM with vermis identification of 2 fissures and 3 lobes and a DS with a well-preserved tonus, which was not associated with other congenital systemic defects. We may conclude that the prognosis of DS-DWM association may separately depend on the degree of clinical and neurological involvement of each malformation.
唐氏综合征（DS）与丹迪-沃克畸形（DWM）的关联极为罕见，迄今为止仅报道过3例。所有已报道的病例均显示出预期寿命不佳和发育结局不良。本病例显示了良好预后的可能性。一名19个月大的男性患者接受了成功的内镜下脑积水治疗，且发育结局良好。由于唐氏综合征和丹迪-沃克畸形的预后参数良好，他可能获得了更好的结局。我们的患者患有丹迪-沃克畸形，小脑蚓部可见2条裂沟和3个叶，患有唐氏综合征，肌张力保存良好且未伴有其他先天性全身缺陷。我们可以得出结论，唐氏综合征与丹迪-沃克畸形关联的预后可能分别取决于每种畸形的临床和神经受累程度。
