Xu Shuai, Zhang Qinming, Liu Tingting, Zhang Ye, Sun Ning
Department of Urology Surgery, Beijing Children's Hospital, National Center for Children's Health Department of Pediatric Surgery, Beijing United Hospital & Clinic Department of Emergency Surgery, Beijing Children's Hospital, National Center for Children's Health, Beijing, China.
Medicine (Baltimore). 2018 Aug;97(34):e12012. doi: 10.1097/MD.0000000000012012.
Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by capillary malformation and pigmentary nevus. Congenital chylous ascites (CCA) is also a rare disease that results from maldevelopment of the lymphatic system. We report a case of a 5-month-old girl, who had both PPV and CCA.
A 5-month-old girl is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot with congenital chylous ascites.
The expression of extensive nevus flammeus and an aberrant Mongolian spot with congenital chylous ascites, that was diagnosed as type IIb phacomatosis pigmentovascularis.
Conservative treatment included administration of somatostatin, MCT-based diet or TPN with drainage of ascitic fluid. Surgery was taken into account after failed conservative treatments. Before surgery, it is necessary to locate the abnormal lymphatic vessels.
Conservative treatment and surgery sometimes functioned limitedly on CCA.
According to the classification system of ISSVA (the International Society for the Study of Vascular Anomalies), this case meet the classification of CLM included in combined vascular malformations. It is likely to there is a connection between these two congenital diseases.
色素血管性斑痣性错构瘤病（PPV）是一种罕见的综合征，其特征为毛细血管畸形和色素痣。先天性乳糜腹水（CCA）也是一种罕见疾病，由淋巴系统发育异常引起。我们报告一例5个月大的女童，同时患有PPV和CCA。
报告了一名5个月大的女童，其患有广泛的火焰状痣和异常蒙古斑，并伴有先天性乳糜腹水。
广泛的火焰状痣和伴有先天性乳糜腹水的异常蒙古斑表现，被诊断为IIb型色素血管性斑痣性错构瘤病。
保守治疗包括给予生长抑素、基于中链甘油三酯的饮食或全胃肠外营养，并引流腹水。保守治疗失败后考虑手术。手术前，有必要定位异常淋巴管。
保守治疗和手术对CCA的作用有时有限。
根据国际血管畸形研究学会（ISSVA）的分类系统，该病例符合联合血管畸形中先天性局限性淋巴管瘤（CLM）的分类。这两种先天性疾病之间可能存在联系。
