PMID- 6789439
OWN - NLM
STAT- MEDLINE
DCOM- 19810915
LR  - 20111117
IS  - 0035-6433 (Print)
IS  - 0035-6433 (Linking)
VI  - 101
IP  - 4
DP  - 1981 Jul-Aug
TI  - Late infantile neuroaxonal dystrophy. An unusual case with predominantly 
      myoclonic-epileptic symptomatology.
PG  - 171-84
AB  - A case of infantile neuroaxonal dystrophy (I.N.A.D.) with late onset is described 
      with protracted course and predominant myoclonic-epileptic symptomatology. A girl 
      of 13 years died in myoclonic-epileptic state. She had suffered from a mild 
      cerebellar deficit, slight intellectual impairment and increasing myoclonic 
      attacks since the age of 5 years. A similar neurological syndrome, beginning at 
      almost the same age, occurred in her younger brother who died at the age of 11 
      years from acute hepatic failure (without autopsy). Histological examination of 
      the CNS in the girl revealed a diffuse neuroaxonal dystrophy, some areas of 
      spongy degeneration in the cerebral and cerebellar white matter, cortical atrophy 
      of cerebellum accompanied by demyelination of the spinocerebellar tracts, the 
      fasciculus gracilis and the cortico-bulbar tracts. Such histological features are 
      in keeping with those of I.N.A.D. or Seitelberger's disease. The clinical 
      features, however, differ considerably from the latter as well as from 
      Hallervorden-Spatz's disease and seem to belong, instead, to the group of 
      progressive myoclonus epilepsies. In the differential diagnosis of these rare 
      conditions, therefore, also the I.N.A.D. ought to be considered.
FAU - Barontini, F
AU  - Barontini F
FAU - Papini, M
AU  - Papini M
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Italy
TA  - Riv Patol Nerv Ment
JT  - Rivista di patologia nervosa e mentale
JID - 0431335
SB  - IM
MH  - Adolescent
MH  - *Axons
MH  - Brain Diseases/complications/*genetics
MH  - Cerebellar Ataxia/etiology
MH  - Child
MH  - Child, Preschool
MH  - Epilepsies, Myoclonic/*etiology
MH  - Female
MH  - Humans
MH  - Intellectual Disability/etiology
MH  - Male
MH  - Muscular Diseases/etiology
RF  - 38
EDAT- 1981/07/01 00:00
MHDA- 1981/07/01 00:01
CRDT- 1981/07/01 00:00
PHST- 1981/07/01 00:00 [pubmed]
PHST- 1981/07/01 00:01 [medline]
PHST- 1981/07/01 00:00 [entrez]
PST - ppublish
SO  - Riv Patol Nerv Ment. 1981 Jul-Aug;101(4):171-84.