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一名患有先天性弓形虫感染的新生儿无眼畸形和颅面裂罕见病例报告。

Report of an unsual case of anophthalmia and craniofacial cleft in a newborn with Toxoplasma gondii congenital infection.

作者信息

Arce-Estrada Gabriel Emmanuel, Gómez-Toscano Valeria, Cedillo-Peláez Carlos, Sesman-Bernal Ana Luisa, Bosch-Canto Vanessa, Mayorga-Butrón José Luis, Vargas-Villavicencio José Antonio, Correa Dolores

机构信息

Laboratory Inmunología Experimental, Instituto Nacional de Pediatría (INP), Secretaría de Salud, Torre de Investigación, Av. Insurgentes Sur 3700-C, Col Insurgentes Cuicuilco, 04530, Ciudad de México, DF, Mexico.

Servicio de Infectología, Instituto Nacional de Pediatría (INP), Secretaría de Salud, Ciudad de México, Mexico.

出版信息

BMC Infect Dis. 2017 Jul 3;17(1):459. doi: 10.1186/s12879-017-2565-8.

DOI:10.1186/s12879-017-2565-8
PMID:28673238
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5494800/
Abstract

BACKGROUND

We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only.

CASE PRESENTATION

A two-month-old male had a twin in utero who disappeared between the 7 and the 14 week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood. CMV infection was also discarded by PCR and IgM negative results. Structures suggestive of T. gondii pseudocysts were observed in a biopsy taken during the first functional/esthetic surgery.

CONCLUSIONS

We conclude that this is a rare case of anophthalmia combined with craniofacial cleft due to congenital toxoplasmosis, that must be considered by physicians. This has not been reported before.

摘要

背景

我们报告了一例罕见的无眼畸形合并颅面裂病例，可能仅由先天性弓形虫病引起。

病例介绍

一名两个月大的男婴在子宫内有一个双胞胎，该双胞胎在妊娠7至14周之间消失。出生时，婴儿出现无眼畸形和颅面裂，且没有与遗传或暴露/缺陷问题相符的体征，如沃尔夫-赫希霍恩综合征或母亲维生素A缺乏症。通过蛋白质印迹法检测到IgM抗体和IgG新抗体，以及通过血液实时PCR检测，确诊为先天性弓形虫病。通过PCR检测和IgM阴性结果也排除了巨细胞病毒感染。在首次功能性/美容手术期间进行的活检中观察到了提示弓形虫假囊肿的结构。

结论

我们得出结论，这是一例罕见的因先天性弓形虫病导致的无眼畸形合并颅面裂病例，医生必须予以考虑。此前尚未有过此类报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/172a/5494800/8eec0ed04127/12879_2017_2565_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/172a/5494800/dcdb7ff8ae1c/12879_2017_2565_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/172a/5494800/095e97134dcb/12879_2017_2565_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/172a/5494800/71e4850ea10d/12879_2017_2565_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/172a/5494800/8eec0ed04127/12879_2017_2565_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/172a/5494800/dcdb7ff8ae1c/12879_2017_2565_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/172a/5494800/095e97134dcb/12879_2017_2565_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/172a/5494800/71e4850ea10d/12879_2017_2565_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/172a/5494800/8eec0ed04127/12879_2017_2565_Fig4_HTML.jpg

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