PMID- 1389334
OWN - NLM
STAT- MEDLINE
DCOM- 19921123
LR  - 20180222
IS  - 0029-0831 (Print)
IS  - 0029-0831 (Linking)
VI  - 24
IP  - 5
DP  - 1992 Sep
TI  - [MRI as an aid for diagnosis of infantile neuroaxonal dystrophy].
PG  - 491-3
AB  - 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.
FAU - Ishii, M
AU  - Ishii M
AD  - Department of Pediatric Neurology, Chiba Rehabilitation Center.
FAU - Tanabe, Y
AU  - Tanabe Y
FAU - Goto, M
AU  - Goto M
FAU - Sugita, K
AU  - Sugita K
LA  - jpn
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PL  - Japan
TA  - No To Hattatsu
JT  - No to hattatsu = Brain and development
JID - 0215224
SB  - IM
MH  - Age Factors
MH  - Axons/*pathology
MH  - Brain Diseases/*diagnosis/genetics/pathology
MH  - Cerebellum/pathology
MH  - Child, Preschool
MH  - Female
MH  - Genes, Recessive
MH  - Humans
MH  - *Magnetic Resonance Imaging
MH  - Nerve Degeneration
MH  - Peripheral Nerves/*pathology
EDAT- 1992/09/01 00:00
MHDA- 1992/09/01 00:01
CRDT- 1992/09/01 00:00
PHST- 1992/09/01 00:00 [pubmed]
PHST- 1992/09/01 00:01 [medline]
PHST- 1992/09/01 00:00 [entrez]
PST - ppublish
SO  - No To Hattatsu. 1992 Sep;24(5):491-3.