RESUMEN
The authors present the case of a child with megalencephaly-capillary malformation syndrome who developed a rapidly progressive holocord syringomyelia that was treated surgically. A 3-year-old boy with megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome presented with several months of right leg weakness, worsening scoliosis, and increased seizures. An MRI study of the brain demonstrated a Chiari I malformation and massively dilated syringomyelia extending from C-2 to the conus medullaris. The patient underwent an urgent suboccipital craniectomy with C1-3 laminectomies to relieve the CSF outflow obstruction with significant clinical improvement. Surgery was complicated by bleeding from intracranial vascular malformations. This report describes a very rapidly developing, massive holocord syringomyelia related to CSF obstruction due to an unusual congenital brain malformation and associated vascular overgrowth at the site. Serial, premorbid MRI studies demonstrated the very rapid progression from no Chiari malformation, to progressively greater cerebellar tonsillar herniation, to holocord syrinx. This complication has never been reported in MCAP syndrome and should be considered in any affected MCAP patient with a progressive neurological decline, even if previous spine imaging findings were normal. Surgical complications due to hemorrhage also need to be considered in this vascular brain malformation.
Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/cirugía , Megalencefalia/diagnóstico por imagen , Megalencefalia/cirugía , Índice de Severidad de la Enfermedad , Enfermedades Cutáneas Vasculares/diagnóstico por imagen , Enfermedades Cutáneas Vasculares/cirugía , Siringomielia/diagnóstico por imagen , Siringomielia/cirugía , Telangiectasia/congénito , Preescolar , Craniectomía Descompresiva/métodos , Humanos , Masculino , Megalencefalia/complicaciones , Enfermedades Cutáneas Vasculares/complicaciones , Siringomielia/complicaciones , Telangiectasia/complicaciones , Telangiectasia/diagnóstico por imagen , Telangiectasia/cirugíaRESUMEN
El síndrome de Adams-Oliver es un desorden congénito raro, caracterizado por la presencia de aplasia cutis congénita y defectos terminales transversos de los miembros. Comunicamos el caso de una niña de 4 años de edad con síndrome de Adams-Oliver que presenta venas congénitas, tortuosas y dilatadas en el cuero cabelludo, aplasia cutis congénita con defectos parciales del hueso craneal subyacente, calcificaciones intracraneales y anomalías leves de los pies.
Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. We report a case of a 4-year-old girl with Adams-Oliver syndrome with congenital dilated and tortuous scalp veins, aplasia cutis congenita with partial underlying skull defects, intracranial calcifications, and mild foot anomalies.