PMID- 10227637
OWN - NLM
STAT- MEDLINE
DCOM- 19990517
LR  - 20190514
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 52
IP  - 7
DP  - 1999 Apr 22
TI  - Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria.
PG  - 1472-8
AB  - OBJECTIVE: To present clinical, neurophysiologic, and neuroradiologic findings in 
      13 patients with infantile neuroaxonal dystrophy (INAD), focusing on aspects that 
      assist early diagnosis. BACKGROUND: Clinicopathologic diagnostic criteria for 
      INAD were delineated by Aicardi and Castelein in 1979, but atypical cases are 
      reported frequently and little is known of the diagnostic utility of MRI. 
      METHODS: The authors reviewed the clinical, neurophysiologic, and MRI findings of 
      13 patients who met the diagnostic criteria for INAD. RESULTS: Symptoms onset was 
      between 6 months and 2 years of age. In nine patients the clinical course was 
      typical, with rapid motor and mental deterioration; in four patients progression 
      was slower and the clinical picture was different. Electromyographic (EMG) signs 
      of chronic denervation, fast rhythms on EEG and abnormal visual evoked potentials 
      were observed in all patients during the disease course. Cerebellar atrophy with 
      signal hyperintensity in the cerebellar cortex on T2-weighted images were the 
      most characteristic MRI findings; hypointensity in the pallida and substantia 
      nigra was also observed in two patients. alpha-N-acetyl-galactosaminidase 
      activity on leukocytes was normal in the 10 patients tested. CONCLUSIONS: EMG and 
      MRI abnormalities are the earliest and most suggestive signs of INAD, which has a 
      clinical and radiologic spectrum that is broader than reported previously.
FAU - Nardocci, N
AU  - Nardocci N
AD  - Department of Child Neurology, National Neurological Institute Carlo Besta, Milan 
      Italy.
FAU - Zorzi, G
AU  - Zorzi G
FAU - Farina, L
AU  - Farina L
FAU - Binelli, S
AU  - Binelli S
FAU - Scaioli, W
AU  - Scaioli W
FAU - Ciano, C
AU  - Ciano C
FAU - Verga, L
AU  - Verga L
FAU - Angelini, L
AU  - Angelini L
FAU - Savoiardo, M
AU  - Savoiardo M
FAU - Bugiani, O
AU  - Bugiani O
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
SB  - IM
MH  - Adolescent
MH  - Brain/pathology/physiopathology
MH  - Child
MH  - Child, Preschool
MH  - Electroencephalography
MH  - Electromyography
MH  - Female
MH  - Humans
MH  - Infant
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Neural Conduction/physiology
MH  - Neuroaxonal Dystrophies/pathology/*physiopathology
EDAT- 1999/05/05 00:00
MHDA- 1999/05/05 00:01
CRDT- 1999/05/05 00:00
PHST- 1999/05/05 00:00 [pubmed]
PHST- 1999/05/05 00:01 [medline]
PHST- 1999/05/05 00:00 [entrez]
AID - 10.1212/wnl.52.7.1472 [doi]
PST - ppublish
SO  - Neurology. 1999 Apr 22;52(7):1472-8. doi: 10.1212/wnl.52.7.1472.