Holoprosencephaly in Patau Syndrome / Holoprosencefalia na Síndrome de Patau

ABSTRACT Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. Case description: This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis. Comments: Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13.

RESUMO Objetivo: Avaliar sinais radiológicos (gestacionais e perinatais) e neonatais de paciente com síndrome de Patau e holoprosencefalia semilobar, assim como relatar a associação de ambas as patologias. Descrição do caso: Trata-se de um relato de recém-nascido do sexo feminino a termo, que apresentou trissomia do cromossomo 13 e holoprosencefalia semilobar, com fusão talâmica e ventrículo cerebral único, além de várias outras alterações que pioraram o prognóstico da paciente. Comentários: A trissomia do cromossomo 13 é um defeito genético que caracteriza um conjunto de sintomas que compõem a Síndrome de Patau. Nesta síndrome, é comum o acometimento cardiovascular, urogenital, do sistema nervoso central, da estrutura facial e da capacidade intelectual, além de falhas na formação dos membros, como diminuição no comprimento do úmero, fêmur, polidactilia, hipotelorismo e baixa implantação das orelhas. Estima-se, no entanto, que a holoprosencefalia apresente-se nesse grupo de malformações congênitas apenas em 24 a 45% dos casos.

Anesthesia in a child operated for cleft lip associated with Patau's syndrome / Anestesia em criança operada para lábio leporino associado à síndrome de Patau

Abstract Patients with Patau's syndrome (Trisomy 13) have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip at 10 months of age.

Resumo Os pacientes com síndrome de Patau (trissomia 13) apresentam várias anomalias craniofaciais, cardíacas, neurológicas e renais, com expectativa de vida bem menor. Entre as anomalias craniofaciais, o lábio leporino e a fenda palatina são comuns. Essas anomalias craniofaciais e cardíacas apresentam dificuldades na anestesia. Portanto, descrevemos o manejo anestésico em uma criança de 10 meses com trissomia 13 submetida à cirurgia de lábio leporino.

Trisomía parcial del cromosoma 13: presentación de un caso / Partial trisomy of chromosome 13: presentation of a case

Fundamento: La trisomía del cromosoma 13 es una enfermedad genética con una incidencia reportada de 1x 20 000 nacidos vivos, que resulta de la presencia de un cromosoma 13 supernumerario; es la trisomía reportada menos frecuente en la especie humana y con diferentes expresiones clínicas. Objetivo: Reportar el caso debido a su poca frecuencia y a su forma de presentación clínica. Reporte del caso: Recién nacido a término, que nace en buenas condiciones, bajo peso al nacer, con diagnóstico prenatal de trisomía parcial 13. Evolucionó tempranamente con distres respiratorio siendo necesario el uso de ventilación mecánica y convulsiones. Se retiró de la ventilación con esfuerzo respiratorio efectivo. Otra anomalía presentada fue una comunicación interauricular e insuficiencia cardiaca. Conclusiones: El pronóstico de vida en estos pacientes se relaciona claramente con la gravedad de las malformaciones y a su vez con el grado de alteración cromosómica, es esta forma de presentación la menos complicada y la de mayor sobrevida, por lo que se recomienda una atención médica de alta especialización para lograr la estabilidad de este paciente el mayor tiempo posible.

Background: Trisomy of chromosome 13 is a genetic disease with a reported incidence of 1x 20 000 live births, resulting from the presence of a supernumerary chromosome 13; is the trisomy reported less frequent in the human species and with different clinical expressions. Objective: To report the case due to its infrequency and to its clinical presentation. Case report: Newborn to term, born in good condition, underweight at birth, with prenatal diagnosis of partial trisomy 13. Early evolution with respiratory distress with the need of using the mechanical ventilation and convulsions. Ventilation was retired with effective respiratory effort. Another anomaly presented was atrial septal defect and heart failure. Conclusions: The prognosis of life in these patients is clearly related to the severity of the malformations and, in turn, to the degree of chromosomal alteration, this form of presentation is the least complicated and the one with the highest survival rate, Of high specialization to achieve the stability of this patient as long as possible.

Síndrome de Patau o trisomía 13: reporte de caso / Patau syndrome or trisomy 13: a case report

RESUMEN Se presenta caso de síndrome de Patau diagnosticado ecográficamente a las 25 semanas de gestación y confirmado por cariotipo. Su desenlace fue fatal apenas nacido.

ABSTRACT We presents a Patau syndrome diagnosed by ultrasound at 25 weeks gestation and confirmed by karyotype. Its outcome was fatal shortly after birth.