Diastematomyelia: A Case with Familial Aggregation of Neural Tube Defects. (2004)

• Record Type: Journal Article
• Authors: Kanbur, Nuray Öksüz; Güner, Pınar; Derman, Orhan; Akalan, Nejat; Cila, Ayşenur; Kutluk, Tezer
• Other Names: Merrick Joav Academic Editor.
• Is Part Of: TheScientificWorldjournal. Volume 4(2004)
• Page Start: 847
• Page End: 852
• Publication Date: 2004
• Subjects: diastematomyelia -- neural tube defect -- familial aggregation -- genetics -- pediatrics -- Turkey; Science -- Periodicals; Technology -- Periodicals; Medicine -- Periodicals; 505
• DOI: 10.1100/tsw.2004.140
• Languages: English
• ISSNs: 2356-6140

Abstract

Abstract : Intrauterine neural tube defects, meningomyelocele, and diastematomyelia are developmental errors at different stages of the closure of the neural tube. The familial aggregation of these neural tube defects is not previously reported in the literature and should make one think about a common embryogenesis and a possible common mechanism of etiopathogenesis leading to anomalies at different stages of this embryogenesis. This paper presents a 12-year-old Turkish boy with diastematomyelia who was suspected with a demonstrative dermatologic finding without any neurologic sign and diagnosed with magnetic resonance imaging (MRI). He has a positive family history of a stillbirth with neural tube defect, an exitus with meningomyelocele, and an epileptic child in his female siblings.