Genetical and Histological Investigation of Turkish Siblings With Spina Bifida Occulta Who Had Neurosurgical Intervention
Journal Title: Journal of Neurological Sciences-Turkish - Year 2009, Vol 26, Issue 2
Abstract
Spina bifida is the one of the most frequently occurring birth defects. More children have spina bifida than muscular dystrophy, multiple sclerosis, and cystic fibrosis combined. Occulta present type is a mild very common form of spina bifida. The reported frequency of occurrence of spina bifida occulta (SBO) varies widely, depending largely on the age groups included in a particular study. The most accurate estimate of occurrence rate is 17% of examined spines. In present study we have examined and compared two Turkish siblings with spina bifida occulta who had neurosurgical intervention. Clinical, histopathological and cytogenetical analyses had been performed on mother and both siblings (brother and sister) diagnosed with spina bifida occulta. Hypertrichosis on their low-backs was diagnosed in both siblings. Magnetic resonance imaging (MRI) studies revealed low conus medullaris and thick filum terminale in brother and sister. The brother somatosensory evoked potential (SEP) results showed lumbar conduction blockade which was not found in sister. Despite the brothers's thick and fatty filum terminale sisters's seemed to be normal. Filum terminale sections from both siblings had normal appearance but atypical structure with increased amount of connective tissue and hyalinization areas. Sections from 9 years old boy were also prominent in glial cells. Genetical analysis revealed normal caryotype in 13 years old sister (46,XX) , however deletions on chromosome 17 have been detected in 9 year-old brother [46,XY/46,XY,del(17)(q25)/47,+mar] and their mother [46,XX/46,XX,del(17)(q25)]. Our results show on strong correlation between the deletion of chromosome 17(q25) with genetical and histological results in both siblings with SBO. This is the first report of chromosome 17 (q25) deletion related to the SBO and its genetic connection with neural tube defects.
Authors and Affiliations
Nuray ALTINTAS, Sukru UMUR, Seda VATANSEVER, Cuneyt TEMIZ, Mehmet SELCUKI, Deniz SELCUKI, Elvan ARSLAN
Keywords
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