title: Dysmyelination of the cerebral white matter with microdeletion at 6p25.
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.
authors: Department of Pediatrics, Maulana Azad Medical College, New Delhi. drseemakapoor@gmail.com
authors: Seema
authors: S
authors: Kapoor
authors: Sharmila Banerjee
authors: SB
authors: Mukherjee
authors: Daraius
authors: D
authors: Shroff
authors: Ritu
authors: R
authors: Arora
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005124:Eye Abnormalities / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D051858:Forkhead Transcription Factors / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D014057:Tomography, X-Ray Computed
chemical_list: C112743:FOXC1 protein, human; C486413:FOXF2 protein, human; D051858:Forkhead Transcription Factors