RESUMO
Limited dorsal myeloschisis (LDM) and congenital dermal sinus (CDS) originate from incomplete disjunction between the cutaneous and neural ectoderms. Some LDM stalks have been found to have elements of a CDS or dermoid cyst. We surgically treated a saccular lesion in the lumbosacral region of a 7-day-old male neonate. Although fetal magnetic resonance imaging (MRI) failed to reveal a stalk, postnatal MRI including three-dimensional heavily T2-weighted imaging demonstrated a stalk originating from the lumbar cord and extending caudally to enter the lumbosacral meningocele sac. During untethering surgery, we found that the stalk was slender, with a diameter of 0.7-0.8 mm, but otherwise appeared to be a typical LDM stalk. Histopathological examination revealed that the fibrocollagenous stalk contained glial fibrillary acidic protein-immunopositive neuroglial tissues and stratified squamous epithelium. The present report describes the first documented case of a stalk with combined features of saccular LDM and CDS in a neonate. Since cutaneous ectodermal tissue is likely to remain in the remnant stalk, this patient requires careful monitoring to detect the potential development of a dermoid cyst.
Assuntos
Cisto Dermoide/diagnóstico por imagem , Cisto Dermoide/cirurgia , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Espinha Bífida Oculta/diagnóstico por imagem , Espinha Bífida Oculta/cirurgia , Adulto , Cisto Dermoide/complicações , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Masculino , Gravidez , Diagnóstico Pré-Natal/métodos , Espinha Bífida Oculta/complicaçõesRESUMO
Pulmonary veno-occlusive disease (PVOD) and idiopathic/heritable pulmonary arterial hypertension (I/HPAH) cause progressive PH on the distinct genetic impact. A 29-month-old boy presented with a loss of consciousness. He had severe PH refractory to pulmonary vasodilators. Hypoxemia and ground-glass opacity on the chest computed tomography were present, and significant pulmonary edema developed after the introduction of continuous intravenous prostaglandin I2 . Based on the clinical diagnosis of PVOD, he underwent a single living-donor lobar lung transplantation with the right lower lobe of his mother. The pathological findings of his explanted lung showed intimal thickening and luminal narrowing of the pulmonary vein. A genetic test revealed a novel heterozygous splice acceptor variant (c.77-2A>C) in BMPR2, which is typically associated with I/HPAH. This is the first pediatric case of PVOD with BMPR2 variant, supporting the concept that I/HPAH and PVOD are part of a spectrum of pulmonary vascular disease.