ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012 / Frequency of holoprosencephaly in Chile

Background: Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity. Aim: To estimate holoprosencephaly prevalence at birth. Patients and Methods: All cases of holoprosencephaly, born alive or stillbirths, registered in the 15 Chilean Hospitals of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1972 and 2012, were studied. Craniofacial and other anomalies found in newborns affected by holoprosencephaly are described. Results: Fifty five cases of holoprosencephaly (58% males) were found among the 798.222 registered births (rendering a prevalence at birth of 0.69 per 10.000 newborns). The most common cranial defect was medial cleft lip with cleft palate (27.3%), bilateral cleft lip (11%) or both (38.2%), cyclopia (14%), single nostril (10.9%) and proboscis (9.1%). Eleven percent cases had a trisomy 13. A slight increase in prevalence over time was observed. Conclusions: Holoprosencephaly has a low frequency in Chile and is associated to trisomy 13. The increase in prevalence could be explained by a better prenatal diagnosis (ultrasonography).

[Holoprosencephaly: Foetopathologic study of 15 cases]

Holoprosencephaly [HPE] is a rare and serious brain anomaly of heterogeneous aetiology. Description of neuropathologic patterns of HPE to eventually integrate it into recognized syndrome. The authors report 15 cases of HPE, examined at the department of pathology of Sousse [Tunisia] over a period of 11 years. The average age of mothers was 32 years and 46% of them were primigestes. The rate of consanguinity was 45%. The population of the study was formed of 13 foeti, 12 of which arose from a medical interruption of pregnancy, and 2 newborns. The average foetal age was of 25.5 weeks of gestation. Antenatal diagnosis was performed on ultrasounds signs represented by a hydrocephalus [7 cases], a microcephaly [4 cases], a harmonious delay of growth [3 case] and a facial dysmorphy [38%] dominated by cyclopia. Neuropathologic Exam identified 13 cases of alobair HPE and 2 cases semi lobar. The HPE was isolated in 2 cases with an unknown caryotype, it was syndromic in 13 cases, associated with a chromosome abnormality confirmed in 3 observations. The neonatal outcome of this deformation remains very poor justifying the interruption of pregnancy except in the lobar forms. An exhaustive domestic inquiry is compulsory to propose to parents a most adequate genetic counselling

Holoprosencefalia: incidência na cidade de Pelotas / Holoprosencephaly: Incidence in the city of Pelotas, Rio Grande do Sul, Brazil

Objetivos: enfatizar a importância do dosgnóstico precoce da holoprosencefalia, a bordagem dos casos nascidos vivos e o aconselhamento genético oferecido aos pais. Determinar o delineamento epidemiológico da família de cada caso afetado. Detectar a incid~encia desta malformação durante o período de estudo. Métodos: estudo retrospectivo, através de revisão de prontuários protocolados, com o questionário do estudo Colaborativo Latino-Americano de malformações Congênitas (ECLAMC), em todos os hospitais de nível terciário da cidade de Pelotas (RS). Todos os casos foram submetidos à avaliação judiciosa de um método geneticista. Foi realizada revisão de leiteratura médica. Resultados: em 13 anos de coleta de dados (janeiro de 1990 a dezembro de 2002) ocorreram seis casos de holoprosencefalia. A incidência foi de 0,8:10.000 nascimento. Detectamos a ocorrência de diabete gestacional e ingestão de ácido acetilsalisílico em dois casos isolados, associação esta, que já foi documentada na literatura revisada. Conclusão: a holoprosencefalia é uma grave malformação cong~enita, podendo ser precocemente diagnosticada para o adequado manejo dos casos nascidos vivos, estudo citogenético familiar e planejamento de gestações futuras.