Dysmyelination of the Cerebral White matter with Microdeletion at 6p25.
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Date
2011-09
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Abstract
A 6-year old boy presented with mental retardation, hypotonia, abnormal facies,
impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld-
Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT
scan of head suggested dysmyelination of the subcortical and periventricular white
matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC1
and FOXF2 loci within 6p25. Dysmyelination of the central nervous system has
been infrequently described earlier in patients with 6p25 deletion.
Description
Keywords
6p25 microdeletion, Axenfeld-Rieger anomaly, Dysmyelination
Citation
Kapoor Seema, Mukherjee Sharmila Banerjee, Shroff Daraius, Arora Ritu. Dysmyelination of the Cerebral White matter with Microdeletion at 6p25. Indian Pediatrics. 2011 Sptember; 48(9): 727-729.