Presentación clínica y manejo del síndrome PHACE en un paciente pediátrico: Reporte de un Caso. Síndrome PHACE en pediatría
Date
Subject
Neurocutaneous disorder
propanolol
PHACE syndrome
Propanolol
síndrome de PHACE
trastorno neurocutáneo
propanolol
PHACE syndrome
Propanolol
síndrome de PHACE
trastorno neurocutáneo
Language:
Journal Title
Journal ISSN
Volume Title
Publisher
Intituto Tecnológico de Santo Domingo (INTEC)
Introducción
El síndrome PHACE es un raro trastorno neurocutáneo que se caracteriza por malformaciones de la fosa posterior, hemangiomas, anomalías arteriales, defectos cardíacos y anomalías oculares. El propranolol es un tratamiento eficaz para los hemangiomas, pero se recomienda realizar evaluaciones cerebrovasculares y cardíacas antes de iniciar la terapia. A menudo, se requiere un tratamiento a largo plazo, con riesgo de crecimiento rebote al interrumpirlo.
Descripción del caso
Presentamos el caso de una niña de 4 años, nacida a las 41 semanas, con exposición prenatal a alcohol y marihuana. Inicialmente normal, desarrolló hemangiomas faciales a los 20 días, lo que provocó obstrucción ocular y ulceración labial. Posteriormente, las imágenes revelaron mega cisterna magna, cambios periorbitales, disgenesia del cuerpo calloso y posible malformación de Dandy-Walker. A los 12 meses, se diagnosticó síndrome PHACE, basado en el tamaño del hemangioma, anomalías de la fosa posterior y hallazgos oculares. A los 20 meses, mostró retraso en habilidades motoras, hipotonía y estrabismo convergente. A los 4 años, presenta retrasos severos en el desarrollo. El propranolol redujo eficazmente sus hemangiomas, con ajustes de dosis según cambios de peso. Recibe atención multidisciplinaria, aunque las limitaciones financieras restringen el acceso a imágenes y pruebas de laboratorio.
Discusión
El síndrome PHACE afecta principalmente a mujeres, con aproximadamente 400 casos documentados a mundialmente. Los hemangiomas faciales están presentes en el 20-30% de estos casos. El diagnóstico se basa en la evaluación clínica y estudios de imagen, incluyendo resonancia magnética y ecocardiografía. Aunque el propranolol es el tratamiento preferido, los resultados a largo plazo siguen siendo inciertos, lo que resalta la necesidad de un monitoreo continuo de las anomalías cerebrovasculares.
Conclusión
Este caso destaca la complejidad del síndrome PHACE, enfatizando la necesidad de un diagnóstico temprano y una gestión cuidadosa. Se requiere más investigación para mejorar las opciones de tratamiento.
Introduction PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and ocular abnormalities. Propranolol is an effective treatment for hemangiomas, but cerebrovascular and cardiac assessments are recommended before initiating therapy. Long-term treatment is often necessary, with a risk of rebound growth upon discontinuation. Case Description We present the case of a 4-year-old girl, born at 41 weeks, with prenatal exposure to alcohol and marijuana. Initially normal, she developed facial hemangiomas at 20 days, leading to eye obstruction and lip ulceration. Subsequently, imaging revealed mega cisterna magna, periorbital changes, corpus callosum dysgenesis, and possible Dandy-Walker malformation. At 12 months, she was diagnosed with PHACE syndrome based on hemangioma size, posterior fossa anomalies, and ocular findings. By 20 months, she exhibited delayed motor skills, hypotonia, and convergent strabismus. At 4 years, she presents severe developmental delays. Propranolol effectively reduced her hemangiomas, with dosage adjustments based on weight changes. She receives multidisciplinary care, although financial constraints limit access to imaging and laboratory tests. Discussion PHACE syndrome primarily affects females, with around 400 documented cases globally. Facial hemangiomas are present in 20-30% of these cases. Diagnosis is based on clinical evaluation and imaging studies, including MRI and echocardiography. While propranolol is the preferred treatment, long-term outcomes remain uncertain, highlighting the need for ongoing monitoring of cerebrovascular anomalies. Conclusion This case underscores the complexity of PHACE syndrome, highlighting the need for early diagnosis and careful management. Further research is required to improve treatment options.
Introduction PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and ocular abnormalities. Propranolol is an effective treatment for hemangiomas, but cerebrovascular and cardiac assessments are recommended before initiating therapy. Long-term treatment is often necessary, with a risk of rebound growth upon discontinuation. Case Description We present the case of a 4-year-old girl, born at 41 weeks, with prenatal exposure to alcohol and marijuana. Initially normal, she developed facial hemangiomas at 20 days, leading to eye obstruction and lip ulceration. Subsequently, imaging revealed mega cisterna magna, periorbital changes, corpus callosum dysgenesis, and possible Dandy-Walker malformation. At 12 months, she was diagnosed with PHACE syndrome based on hemangioma size, posterior fossa anomalies, and ocular findings. By 20 months, she exhibited delayed motor skills, hypotonia, and convergent strabismus. At 4 years, she presents severe developmental delays. Propranolol effectively reduced her hemangiomas, with dosage adjustments based on weight changes. She receives multidisciplinary care, although financial constraints limit access to imaging and laboratory tests. Discussion PHACE syndrome primarily affects females, with around 400 documented cases globally. Facial hemangiomas are present in 20-30% of these cases. Diagnosis is based on clinical evaluation and imaging studies, including MRI and echocardiography. While propranolol is the preferred treatment, long-term outcomes remain uncertain, highlighting the need for ongoing monitoring of cerebrovascular anomalies. Conclusion This case underscores the complexity of PHACE syndrome, highlighting the need for early diagnosis and careful management. Further research is required to improve treatment options.
Description
Type
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
info:eu-repo/semantics/publishedVersion
Source
Science and Health; Vol. 9 No. 3 (2025): Science and Health, september-december; 99-105
Ciencia y Salud; Vol. 9 Núm. 3 (2025): Ciencia y Salud, septiembre-diciembre; 99-105
2613-8824
2613-8816
10.22206/cisa.2025.v9i3
Ciencia y Salud; Vol. 9 Núm. 3 (2025): Ciencia y Salud, septiembre-diciembre; 99-105
2613-8824
2613-8816
10.22206/cisa.2025.v9i3