PMID- 3962588 OWN - NLM STAT- MEDLINE DCOM- 19860425 LR - 20190812 IS - 0001-6322 (Print) IS - 0001-6322 (Linking) VI - 69 IP - 1-2 DP - 1986 TI - Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy. PG - 117-23 AB - Biopsies of the biceps muscle and sural nerve were taken from a girl aged 2 years with infantile neuroaxonal dystrophy (INAD). In addition to the typical axonal spheroid bodies in a number of the i.m. nerve fibers, the neuromuscular junctions (NMJs) and motor nerve endings also contained axonal swellings. The sural nerve, except for three dystrophic fibers, was almost completely normal. A teased nerve preparation showed four additional abnormal fibers with focal axonal enlargement similar to those in giant axonal neuropathy (GAN). These results suggest that a biceps muscle biopsy may be more useful than a sural nerve biopsy for the diagnosis of INAD, because the muscle contains abnormal peripheral nerves and NMJs in high frequency. FAU - Miike, T AU - Miike T FAU - Ohtani, Y AU - Ohtani Y FAU - Nishiyama, S AU - Nishiyama S FAU - Matsuda, I AU - Matsuda I LA - eng PT - Case Reports PT - Journal Article PL - Germany TA - Acta Neuropathol JT - Acta neuropathologica JID - 0412041 SB - IM MH - *Axons/enzymology MH - Child, Preschool MH - Female MH - Humans MH - Microscopy, Electron MH - Muscles/enzymology/*pathology MH - Nervous System Diseases/enzymology/*pathology MH - Neuromuscular Junction/ultrastructure MH - Peripheral Nerves/*pathology MH - Syndrome EDAT- 1986/01/01 00:00 MHDA- 1986/01/01 00:01 CRDT- 1986/01/01 00:00 PHST- 1986/01/01 00:00 [pubmed] PHST- 1986/01/01 00:01 [medline] PHST- 1986/01/01 00:00 [entrez] AID - 10.1007/BF00687047 [doi] PST - ppublish SO - Acta Neuropathol. 1986;69(1-2):117-23. doi: 10.1007/BF00687047.