[MRI as an aid for diagnosis of infantile neuroaxonal dystrophy].
We experienced a 5-year-old girl, who had presented with nystagmus and psychomotor regression since 1 year old. No clinical diagnosis had been made despite various examinations including lysosomal enzymes and muscle biopsy. Her brain magnetic resonance imaging (MRI) revealed increased a T2 signal in bilateral cerebellar hemisphere. Recently this MRI finding was reported as a typical feature of infantile neuroaxonal dystrophy (INAD). Then we performed the second biopsy from her peripheral nerve, and diagnosed her as having INAD. It was suggested that MRI was a useful aid for the diagnosis of INAD.
Ishii
M
M
Department of Pediatric Neurology, Chiba Rehabilitation Center.
Tanabe
Y
Y
Goto
M
M
Sugita
K
K
D000367:Age Factors; D001369:Axons / Q000473:pathology*; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D009410:Nerve Degeneration; D010525:Peripheral Nerves / Q000473:pathology*