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Case Reports
. 2015 Jul-Aug;133(4):377-80.
doi: 10.1590/1516-3180.2013.7930003. Epub 2014 Oct 17.

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

Rafael Fabiano Machado Rosa  1 , Flávia Enk  2 , Korine Camargo  2 , Giovanni Marco Travi  3 , André Freitas  3 , Rosana Cardoso Manique Rosa  4 , Carla Graziadio  1 , Vinicius Freitas de Mattos  1 , Paulo Ricardo Gazzola Zen  1
Affiliations
Case Reports

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

Rafael Fabiano Machado Rosa et al. Sao Paulo Med J. 2015 Jul-Aug.

Abstract
in English, Portuguese

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.

CONTEXTO:: A forma autossômica recessiva da síndrome de microcefalia-coriorretinopatia é condição genética rara, considerada um importante diagnóstico diferencial com toxoplasmose congênita.

RELATO DO CASO:: O paciente era um menino branco de sete anos de idade, inicialmente diagnosticado com toxoplasmose congênita. No entanto, suas sorologias para infecções congênitas, incluindo a toxoplasmose, eram negativas. Ele foi o primeiro filho de pais jovens, hígidos e consanguíneos (parentes de quarto grau). Os pais apresentavam perímetro cefálico e inteligência normais. O paciente apresentava microcefalia e anormalidades específicas da retina com áreas ovais de pigmentação múltiplas e difusas, além de manchas de atrofia coriorretiniana associadas à pigmentação difusa do fundo de olho. A avaliação oftalmológica dos pais foi normal. A tomografia computadorizada de crânio da criança mostrou discreta dilatação dos ventrículos laterais e cisternas basais, sem evidência de calcificações. Nós não verificamos a presença de linfedema em suas mãos e pés. Ele possuía retardo do crescimento pós-natal, deficiência mental grave e paralisia cerebral.

CONCLUSÃO:: O achado de lesões coriorretinianas em uma criança com microcefalia deve aumentar a suspeita da forma autossômica recessiva da síndrome de microcefalia-coriorretinopatia, principalmente em casos com padrão atípico de fundo de olho e consanguinidade. O diagnóstico preciso é essencial para correta avaliação clínica e aconselhamento genético dos pacientes e suas famílias.

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Conflict of interest statement

Conflict of interest: None

Figures

Figure 1.
Figure 1.. Pedigree of the family showing the consanguinity observed between the patient’s parents.
Figure 2.
Figure 2.. Appearance of the patient at five years of age showing microcephaly, prominent large ears, pointed chin (A and B), and spasticity of upper limbs (A).
Figure 3.
Figure 3.. Images of the eye fundus examination showing peripapillary retinal atrophy; abnormality of the peripheral retinal pigment epithelium, typical of chorioretinopathy, with poorly defined borders and little perilesional pigmentation; and a minor juxtapapillary lesion occupying the macula and multiple clumps of pigment spread across the retina in the right eye (RE: right eye; LE: left eye).
Table 1.
Table 1.. Results obtained from each database using the descriptor of the diagnosis presented by the patient. The search in these databases was conducted on November 29, 2013
See this image and copyright information in PMC

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