Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | São Paulo medical journal (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000400377 |
Resumo: | 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. 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. |
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Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case reportMicrocephalyRetinaIntellectual disabilityConsanguinityToxoplasmosisCONTEXT: 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. 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.Associação Paulista de Medicina - APM2015-08-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000400377Sao Paulo Medical Journal v.133 n.4 2015reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/1516-3180.2013.7930003info:eu-repo/semantics/openAccessRosa,Rafael Fabiano MachadoEnk,FláviaCamargo,KorineTravi,Giovanni MarcoFreitas,AndréRosa,Rosana Cardoso ManiqueGraziadio,CarlaMattos,Vinicius Freitas deZen,Paulo Ricardo Gazzolaeng2015-10-23T00:00:00Zoai:scielo:S1516-31802015000400377Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2015-10-23T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse |
dc.title.none.fl_str_mv |
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report |
title |
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report |
spellingShingle |
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report Rosa,Rafael Fabiano Machado Microcephaly Retina Intellectual disability Consanguinity Toxoplasmosis |
title_short |
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report |
title_full |
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report |
title_fullStr |
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report |
title_full_unstemmed |
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report |
title_sort |
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report |
author |
Rosa,Rafael Fabiano Machado |
author_facet |
Rosa,Rafael Fabiano Machado Enk,Flávia Camargo,Korine Travi,Giovanni Marco Freitas,André Rosa,Rosana Cardoso Manique Graziadio,Carla Mattos,Vinicius Freitas de Zen,Paulo Ricardo Gazzola |
author_role |
author |
author2 |
Enk,Flávia Camargo,Korine Travi,Giovanni Marco Freitas,André Rosa,Rosana Cardoso Manique Graziadio,Carla Mattos,Vinicius Freitas de Zen,Paulo Ricardo Gazzola |
author2_role |
author author author author author author author author |
dc.contributor.author.fl_str_mv |
Rosa,Rafael Fabiano Machado Enk,Flávia Camargo,Korine Travi,Giovanni Marco Freitas,André Rosa,Rosana Cardoso Manique Graziadio,Carla Mattos,Vinicius Freitas de Zen,Paulo Ricardo Gazzola |
dc.subject.por.fl_str_mv |
Microcephaly Retina Intellectual disability Consanguinity Toxoplasmosis |
topic |
Microcephaly Retina Intellectual disability Consanguinity Toxoplasmosis |
description |
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. 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. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-08-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000400377 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000400377 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1516-3180.2013.7930003 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
dc.source.none.fl_str_mv |
Sao Paulo Medical Journal v.133 n.4 2015 reponame:São Paulo medical journal (Online) instname:Associação Paulista de Medicina instacron:APM |
instname_str |
Associação Paulista de Medicina |
instacron_str |
APM |
institution |
APM |
reponame_str |
São Paulo medical journal (Online) |
collection |
São Paulo medical journal (Online) |
repository.name.fl_str_mv |
São Paulo medical journal (Online) - Associação Paulista de Medicina |
repository.mail.fl_str_mv |
revistas@apm.org.br |
_version_ |
1754209264409247744 |