Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report.

ABSTRACT:

Context

The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.

Case report

Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative. He was the first child of young, healthy and consanguineous parents (fourth-degree relatives). The parents had normal head circumferences and intelligence. The patient presented microcephaly and specific abnormalities of the retina, with multiple diffuse oval areas of pigmentation and patches of chorioretinal atrophy associated with diffuse pigmentation of the fundus. Op

SUBMITTER: Rosa RF 

PROVIDER: S-EPMC10876356 | biostudies-literature | 2015 Jul-Aug

REPOSITORIES: biostudies-literature