RESUMO
El síndrome de regresión caudal es una malformación congénita poco frecuente que abarca un gran espectro de formas de presentación. Caracterizado por el compromiso musculoesquelético caudal, se puede asociar a defectos neurológicos, gastrointestinales, renales y genitourinarios. Aunque su etiología aún no se encuentra aclarada, se ha asociado a la presencia de diabetes materna y a mutaciones en el gen homeobox HBLX9. Su diagnóstico se basa en un buen estudio ecográfico prenatal, un examen físico detallado y estudio imagenológico posnatal con radiografía y/o resonancia magnética. El síndrome de regresión caudal requiere un manejo multidisciplinario en el cual el control metabólico de la diabetes gestacional constituye la mejor medida preventiva disponible en la actualidad. Se presenta el caso e imágenes de un recién nacido de término de sexo masculino, hijo de madre diabética pregestacional con mal control metabólico y diagnóstico ecográfico prenatal de malformación de columna lumbar, huesos iliacos y extremidades inferiores. Nace en buenas condiciones y se confirma el diagnóstico de síndrome de regresión caudal mediante estudio radiográfico y resonancia magnética compatibles.
Caudal regression syndrome is an uncommon congenital malformation that includes a wide spectrum of clinical presentations. Characterised by caudal musculoskeletal compromise, it can be associated to neurological, gastrointestinal, renal and genitourinary defects. Although the specific aetiology has not been clarified, it has been associated with the presence of maternal diabetes and mutations in homeobox gene HBLX9. Its diagnosis is based on a good prenatal ultrasound detection, detailed physical examination, and post-natal imaging study using radiography and magnetic resonance. Caudal regression syndrome requires multidisciplinary management, and it seems that good metabolic control of gestational diabetes constitutes the best preventive measure available. We present the clinical case and images of a male term newborn, born to a pregestational diabetic mother with poor metabolic control and a prenatal ultrasound diagnosis of lumbar spine, iliac bones and lower limbs malformation. Born in good conditions, the diagnosis was confirmed using X-rays and magnetic resonance.
Assuntos
Humanos , Masculino , Feminino , Gravidez , Adulto , Região Sacrococcígea/anormalidades , Anormalidades Múltiplas/diagnóstico , Ultrassonografia Pré-Natal/métodos , Diabetes Gestacional/fisiopatologia , Meningocele/diagnóstico , Região Sacrococcígea/fisiopatologia , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/fisiopatologia , Vértebras Lombares , Meningocele/etiologia , Meningocele/fisiopatologiaRESUMO
Caudal regression syndrome is an uncommon congenital malformation that includes a wide spectrum of clinical presentations. Characterised by caudal musculoskeletal compromise, it can be associated to neurological, gastrointestinal, renal and genitourinary defects. Although the specific aetiology has not been clarified, it has been associated with the presence of maternal diabetes and mutations in homeobox gene HBLX9. Its diagnosis is based on a good prenatal ultrasound detection, detailed physical examination, and post-natal imaging study using radiography and magnetic resonance. Caudal regression syndrome requires multidisciplinary management, and it seems that good metabolic control of gestational diabetes constitutes the best preventive measure available. We present the clinical case and images of a male term newborn, born to a pregestational diabetic mother with poor metabolic control and a prenatal ultrasound diagnosis of lumbar spine, iliac bones and lower limbs malformation. Born in good conditions, the diagnosis was confirmed using X-rays and magnetic resonance.
Assuntos
Anormalidades Múltiplas/diagnóstico , Diabetes Gestacional/fisiopatologia , Meningocele/diagnóstico , Região Sacrococcígea/anormalidades , Ultrassonografia Pré-Natal/métodos , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/fisiopatologia , Adulto , Feminino , Humanos , Recém-Nascido , Vértebras Lombares , Masculino , Meningocele/etiologia , Meningocele/fisiopatologia , Gravidez , Região Sacrococcígea/fisiopatologiaRESUMO
Se practicó RM a 35 pacientes con diagnóstico de disrrafismo espinal en los cuales se logró determinar la localización exacta de los defectos como espina bifida o meningocele, además se definió su extensión y las patologías asociadas como el lipoma, la siringomielia, la distematomielia, médula anclada, así como la malformación de Arnold Chiari. Se considera que la RM es el método de elección en los pacientes con disrrafismo espinal, debido a que es un método no invasivo, multiplanar y que permite delimitar los defectos de la línea media de manera precisa
Assuntos
Lactente , Pré-Escolar , Criança , Humanos , Masculino , Feminino , Meningocele/diagnóstico , Meningocele/fisiopatologia , Espinha Bífida Cística/diagnóstico , Espinha Bífida Cística/fisiopatologia , Imageamento por Ressonância MagnéticaRESUMO
Specific information on the outcome for a child with a cephalocele can be difficult to find and interpret. To update outcome information for the child with a cephalocele, the investigators compared outcome of 34 infants from their institution with that of those in previously published series. For the infants from the investigators' institution, overall mortality was 29% and was confined to infants with posterior defects, which was consistent with other published series. Additional major congenital abnormalities were present in nearly half the infants, and these were an important factor in contributing to a poorer prognosis as well as whether the defect could be operatively reduced. Seizures and hydrocephalus were often secondary problems in those infants who did worse. In addressing outlook for the infant with the cephalocele, primary factors to be considered are operability and the presence of additional major abnormalities, both intracranial and extracranial.