title: Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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. Ophthalmological evaluations on the parents were normal. A computed tomography scan of the child's head showed slight dilation of lateral ventricles and basal cisterns without evidence of calcifications. We did not find any lymphedema in his hands and feet. He had postnatal growth retardation, severe mental retardation and cerebral palsy.
  
  
  CONCLUSIONS
  The finding of chorioretinal lesions in a child with microcephaly should raise suspicions of the autosomal recessive form of microcephaly-chorioretinopathy syndrome, especially in cases with an atypical pattern of eye fundus and consanguinity. A specific diagnosis is essential for an appropriate clinical evaluation and for genetic counseling for the patients and their families.
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Rafael Fabiano Machado
authors.initials: RF
authors.lastname: Rosa
authors.affiliation: Universidade Luterana do Brasil, Canoas, Rio Grande do Sul, Brazil.
authors.forename: Flávia
authors.initials: F
authors.lastname: Enk
authors.affiliation: Universidade Luterana do Brasil, Canoas, Rio Grande do Sul, Brazil.
authors.forename: Korine
authors.initials: K
authors.lastname: Camargo
authors.affiliation: Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Giovanni Marco
authors.initials: GM
authors.lastname: Travi
authors.affiliation: Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: André
authors.initials: A
authors.lastname: Freitas
authors.affiliation: Grupo Hospitalar Conceição, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Rosana Cardoso Manique
authors.initials: RC
authors.lastname: Rosa
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Graziadio
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Vinicius Freitas de
authors.initials: VF
authors.lastname: Mattos
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Paulo Ricardo Gazzola
authors.initials: PR
authors.lastname: Zen
mesh_terms: D002547:Cerebral Palsy / Q000235:genetics; D002648:Child; D003241:Consanguinity; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D055213:Retinal Pigment Epithelium / Q000002:abnormalities*; D013577:Syndrome