Early prenatal diagnosis of familial lipomyelomeningocele.
This report describes and illustrates the early prenatal diagnosis of a familial recurrence of congenital lipomyelomeningocele. Diagnosis was made from longitudinal and transverse ultrasound views of the fetal spine at 17 weeks' gestation showing a fourth echogenic area in the lumbosacral dorsal midline. Early diagnosis and resection of this often harmless-appearing, rare teratomatous tumor of the spinal cord is necessary to prevent irreversible neurologic damage during childhood. Familial recurrence has not previously been documented. This case emphasizes that reproductive counseling after the birth of an infant with a rare malformation must always include the possibility of recurrence. The antenatal sonographic and neonatal appearance is presented.
D000328:Adult; D005260:Female; D006801:Humans; D008067:Lipoma / Q000175:diagnosis / Q000235:genetics*; D008591:Meningomyelocele / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013120:Spinal Cord Neoplasms / Q000175:diagnosis / Q000235:genetics*; D014463:Ultrasonography