PMID- 8216545
OWN - NLM
STAT- MEDLINE
DCOM- 19931203
LR  - 20190909
IS  - 0887-8994 (Print)
IS  - 0887-8994 (Linking)
VI  - 9
IP  - 4
DP  - 1993 Jul-Aug
TI  - Infantile neuroaxonal dystrophy: axonal changes in biopsied muscle tissue.
PG  - 309-11
AB  - Dystrophic axons were found in the biopsied muscle tissue of a 17-month-old 
      hypotonic infant after confirmation of a diagnosis of infantile neuroaxonal 
      dystrophy (INAD) by subsequent peripheral nerve biopsy. He manifested gradual 
      deterioration and had brief tonic seizures. The sural nerve biopsy, performed at 
      age 42 months, confirmed INAD. Intensive ultrastructural investigation of the 
      preceding muscle biopsy specimens demonstrated infrequent but definite findings 
      of axonal degeneration in the musculature. Ultrastructural investigation of 
      muscle biopsy should include a careful search for neural tissue because in INAD 
      axonal changes occur primarily in the presynaptic region.
FAU - Wakai, S
AU  - Wakai S
AD  - Department of Pediatrics, Sapporo Medical University, School of Medicine, Japan.
FAU - Asanuma, H
AU  - Asanuma H
FAU - Tachi, N
AU  - Tachi N
FAU - Ishikawa, Y
AU  - Ishikawa Y
FAU - Minami, R
AU  - Minami R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Pediatr Neurol
JT  - Pediatric neurology
JID - 8508183
SB  - IM
MH  - Axons/*pathology
MH  - Biopsy
MH  - Child, Preschool
MH  - Cytoplasmic Granules/ultrastructure
MH  - Humans
MH  - Male
MH  - Microscopy, Electron
MH  - Muscle Hypotonia/pathology
MH  - Muscles/*innervation/pathology
MH  - Muscular Dystrophies/*pathology
MH  - Myelin Sheath/pathology
MH  - Neurologic Examination
MH  - Sural Nerve/pathology
EDAT- 1993/07/01 00:00
MHDA- 1993/07/01 00:01
CRDT- 1993/07/01 00:00
PHST- 1993/07/01 00:00 [pubmed]
PHST- 1993/07/01 00:01 [medline]
PHST- 1993/07/01 00:00 [entrez]
AID - 0887-8994(93)90070-S [pii]
AID - 10.1016/0887-8994(93)90070-s [doi]
PST - ppublish
SO  - Pediatr Neurol. 1993 Jul-Aug;9(4):309-11. doi: 10.1016/0887-8994(93)90070-s.