Vanishing white matter disease: the first reported chinese patient.
Vanishing white matter disease is a rare neurological disease. The majority of patients reported are Caucasian individuals. We describe the first Chinese patient with typical clinical and radiological features genetically confirmed to have vanishing white matter disease for a mutation in EIF2B4, followed by a brief review of the disease.
Wong
Sheila S N
SS
Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Kowloon, Hong Kong SAR, China. snsheilawong@yahoo.com.hk
Luk
David C K
DC
Wong
Virginia C N
VC
Scheper
Gert C
GC
van der Knaap
Marjo S
MS
D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D001921:Brain / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D002794:Choline / Q000032:analysis; D003241:Consanguinity; D004252:DNA Mutational Analysis; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005838:Genotype; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006723:Hong Kong; D006801:Humans; D019344:Lactic Acid / Q000032:analysis; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype
D020717:Eukaryotic Initiation Factor-2B; D001224:Aspartic Acid; D019344:Lactic Acid; C000179:N-acetylaspartate; D002794:Choline