Síndrome de Moebius y ortotropía en posición primaria: ¿es infrecuente esta asociación? (Colombia) / Moebius syndrome and orthotropia in primary position: is this association uncommon? (Colombia) / Síndrome de Moebius e ortotropia em posição primária: é uma associação incomum? (Colômbia)

El síndrome de Moebius es una enfermedad congénita poco común que se caracteriza por el compromiso unilateral o bilateral del VI y VII par craneal, lo que compromete los músculos que controlan la oculomotricidad, produciendo una parálisis en la abducción del globo ocular y los músculos involucrados en la expresión facial. Su presentación clínica y grados de severidad son variables, puede presentar compromiso simétrico o asimétrico. Adicionalmente, gran parte de los casos se relacionan con trastornos del lenguaje, anomalías musculoesqueléticas y orofaciales. En el presente artículo se presenta el caso de una paciente femenina de 3 años producto de un embarazo trigemelar con diagnóstico clínico de síndrome de Moebius al nacer, confirmado por neuroimagen en la que se evidencia la ausencia bilateral del nervio facial en ángulos pontocerebelosos, adicionalmente con un defecto completo en los movimientos oculares de abducción y aducción lo que impide el estrabismo convergente común en estos pacientes.

Moebius syndrome is a rare congenital disease characterized by unilateral or bilateral involvement of the VI and VII cranial nerves, which compromises the muscles that control ocular motricity with paralysis in the abduction of the eyeball and the muscles involved in the facial expression. Its clinical presentation and degrees of severity are variable, and it can be symmetric or asymmetric. Additionally, most of the cases are related to language disorders, musculoskeletal and orofacial anomalies. This paper presents the case of a 3-year-old female patient, product of a trigemellar pregnancy with a clinical diagnosis of Moebius syndrome at birth, confirmed by neuroimaging, which shows the bilateral absence of the facial nerve in point-lateral angles. Additionally she has a complete defect in abduction and adduction eye movements, which prevents the common convergent strabismus in these patients.

A síndrome de Moebius é uma doença congênita rara caracterizada pelo envolvimento unilateral ou bilateral dos nervos cranianos VI e VII, que compromete os músculos que controlam a oculomotricidade com paralisia na abdução do globo ocular e dos músculos envolvidos na expressão facial. Sua apresentação clínica e graus de gravidade são variáveis, podendo ser um comprometimento simétrico ou assimétrico. Além disso, a maioria dos casos está relacionada a distúrbios de linguagem, anomalias musculoesqueléticas e orofaciais. Este paper apresenta o caso de uma paciente de 3 anos de idade, fruto de uma gravidez trigêmea com diagnóstico clínico de Síndrome de Moebius ao nascimento, confirmado por neuroimagem em que é evidente a ausência bilateral do nervo facial nos ângulos ponto-cerebelares. Além disso, ela tem um defeito completo nos movimentos oculares de abdução e adução, o que impede o estrabismo convergente comum nesses pacientes.

Leptospirosis en pediatría, un diagnóstico a tener en cuenta / Leptospirosis in pediatrics, a diagnosis to be considered

Resumen La leptospirosis humana es una importante causa de enfermedad febril aguda que afecta con mayor frecuencia las zonas tropicales. Su principal reservorio es los roedores por lo que la infección está vinculada con factores de pobreza, déficit sanitario, actividades recreativas y laborales que favorecen el contacto con la orina de animales infectados, agua o suelos contaminados. Las infecciones por Leptospira spp tienen una presentación inespecífica desde cuadros asintomáticos hasta un compromiso multisistémico con alta mortalidad, siendo la sospecha clínica y la presencia de factores de riesgo las variables iniciales para el diagnóstico de la enfermedad. Entre los métodos disponibles para el diagnóstico microbiológico se destaca la observación directa, el cultivo, la reacción de polimerasa en cadena y la serología que permiten la confirmación de éste. El tratamiento de leptospirosis en niños se basa en medidas de soporte y en el inicio de antimicrobianos β-lactámicos o macrólidos. Las medidas de prevención de la enfermedad son fundamentales en la población expuesta al riesgo siendo recursos esenciales intervenciones generales, quimioprofilaxis y vacunación. El conocimiento, la consideración diagnóstica y el tratamiento oportuno en el paciente pediátrico, acelera la recuperación y limita la aparición de complicaciones que pueden impactar en la calidad de vida.

Abstract Human leptospirosis is an important cause of acute febrile disease that most frequently affects tropical areas. Its main reserve is rodents, so the infection is limited by factors of poverty, health deficit, recreational and work activities that favor contact with the urine of infected animals, contaminated water or soil. Leptospira spp infections have a non-specific presentation, ranging from asymptomatic to multisystem compromise with high mortality; being the clinical suspicion and the presence of risk factors the initial variables for the diagnosis of the disease. Among the available methods for microbiological diagnosis, direct observation, culture, polymerase chain reaction and serology that allows confirmation of this are highlighted. The treatment of leptospirosis in children is based on clinical support measures and the antibiotic initiation of β-lactams or macrolides. Disease prevention measures are fundamental in the population exposed to risk being essential resources general interventions, chemoprophylaxis and vaccination. The knowledge, diagnostic consideration, and timely treatment in pediatric patients accelerate recovery and limit the appearance of complications that can impact the quality of life

[Leptospirosis in pediatrics, a diagnosis to be considered]. / Leptospirosis en pediatría, un diagnóstico a tener en cuenta.

Human leptospirosis is an important cause of acute febrile disease that most frequently affects tropical areas. Its main reserve is rodents, so the infection is limited by factors of poverty, health deficit, recreational and work activities that favor contact with the urine of infected animals, contaminated water or soil. Leptospira spp infections have a non-specific presentation, ranging from asymptomatic to multisystem compromise with high mortality; being the clinical suspicion and the presence of risk factors the initial variables for the diagnosis of the disease. Among the available methods for microbiological diagnosis, direct observation, culture, polymerase chain reaction and serology that allows confirmation of this are highlighted. The treatment of leptospirosis in children is based on clinical support measures and the antibiotic initiation of ß-lactams or macrolides. Disease prevention measures are fundamental in the population exposed to risk being essential resources general interventions, chemoprophylaxis and vaccination. The knowledge, diagnostic consideration, and timely treatment in pediatric patients accelerate recovery and limit the appearance of complications that can impact the quality of life.