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).

Limitación/adecuación del esfuerzo terapéutico en pediatría / Limitation/adequacy of therapeutic effort in pediatrics

En niños con condiciones de salud que amenazan sus vidas, el trayecto de la enfermedad puede llevar, en ocasiones, a que los profesionales de la salud y las familias se pregunten si continuar los tratamientos representa la mejor opción para el niño. A veces, limitar o suspender las medidas de soporte vital resulta más apropiado, especialmente si el tratamiento sólo preserva la existencia biológica o si el objetivo global del cuidado ha cambiado a “solamente mantener el confort”. Se presenta el caso de un niño portador de encefalopatía crónica en etapa terminal, en el cual se implementaron medidas de adecuación del esfuerzo terapéutico con el objetivo de permitir una muerte digna. Se describe el proceso de toma de decisiones conjunta con los padres, la forma de registro médico y las principales medidas de cuidado al final de la vida.

Sometimes, the disease trajectory in children with life threatening conditions can lead health professionals and families to wonder whether continuing treatment is the best option for the child. Occasionally, limiting or discontinuing life support measures is advisable, especially if treatment only preserves biological existence or the overall goal of care has shifted to just “maintaining comfort”. The study presents the case of a child with chronic encephalopathy in terminal stadium, for whom measures of therapeutic adequacy were implemented with the aim of allowing a quite death. The shared decision-making process, the medical record document and the main measures of care at end of life are described.

Síndrome de incisivo central superior mediano: relato de caso / Syndrome of the single median maxilarry central incisor: case report

A síndrome do incisivo central superior mediano inclui uma variedade de sinais clínicos decorrentes de defeitos de desenvolvimento das estruturas medianas da face e da parte anterior do cérebro. A agenesia de um dos incisivos centrais superiores é um dos sinais clínicos que caracteriza essa síndrome e, por se tratar de anomalia presente na cavidade bucal, institui o cirurgião dentista como um dos primeiros profissionais a ter contato com esses pacientes. O presente trabalho tem por objetivo apresentar um paciente com tal síndrome, buscando promover o embasamento dos profissionais para que estejam qualificados a diagnosticar, orientar e tratar esses pacientes.

Prenatal MRI Findings of Polycystic Kidney Disease Associated with Holoprosencephaly

Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and precise prenatal diagnosis would be of great value. This case report describes extensive PKD involvement, already present in utero, in a patient with HPE and subdural effusion visible by MR imaging. The detailed anatomic information obtained by the MR imaging can guide the surgical planning and can aid antenatal counseling.

Holoprosencephaly with cyclopia--report of a pathological study.

A rare case of a lobar holoprosencephaly with cyclopia, associated with non-nervous system anomalies is being reported.

Holoprosencefalia: cebocefalia y ciclopadia: aspectos clínicos / Holoprosencephaly: cebocephaly and cyclopia: clinical aspect

Se presenta un estudio retrospectivo sobre la incidencia de las holoprosencefalias más frecuentes: cíclopes y cebocéfalos en la Maternidad "Concepción Palacios" desde 1949 a 1996. Se encontró que la incidencia global de holoprosencefalia es de 1 x 40 691 partos. La incidencia de cíclopes es de 1 x 51 115 partos y las de los cebocéfalos es de 1 x 31 712 partos. Se describen las malformaciones externas e internas asociadas y el diagnóstico pre y posnatal

Diagnóstico prenatal: trisomía 13 y holoprosencefalia

Se presenta un caso de diagnóstico prenatal de trisomía 13 y holoprosencefalia, durante el segundo trimestre de embarazo. Se practica una revisión de la literatura existente, incluyendo criterios de diagnóstico sonográfico y aspectos genéticos asociados. Se insiste en la importancia del diagnóstico sonográfico y genético antenatal, en la determinación de un pronóstico para el manejo ante e intraparto de estos casos