PMID- 11414651
OWN - NLM
STAT- MEDLINE
DCOM- 20011204
LR  - 20131121
IS  - 0174-304X (Print)
IS  - 0174-304X (Linking)
VI  - 32
IP  - 2
DP  - 2001 Apr
TI  - Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD).
PG  - 97-100
AB  - Changes of cerebral metabolites detected by proton MR spectroscopy in two cases 
      of infantile neuroaxonal dystrophy are described. A 6 11/12-year-old boy and a 
      girl (aged 4 1/12 years at the first and 5 2/12 years at the second examination) 
      with infantile neuroaxonal dystrophy were investigated by magnetic resonance 
      imaging and spectroscopy of the basal ganglia. The signal intensity of the 
      cerebellar cortex was increased on T2-weighted, proton density, and fluid 
      attenuated inversion recovery images. The long echo time (135 ms) spectra 
      revealed the presence of lactate in the basal ganglia of both cases in all 
      investigations. The N-acetylaspartate/creatine ratio was reduced in Case 1 and in 
      the second investigation of Case 2. The choline/creatine ratio was always 
      increased. As the diagnosis of infantile neuroaxonal dystrophy is made by a 
      synopsis of various clinical, neuropathological, neurophysiological, and 
      neuroradiological data, the presence of lactate in the basal ganglia spectra may 
      help to narrow down the diagnosis and can support the decision to perform more 
      invasive diagnostic procedures (such as biopsies of skin, conjunctiva or even of 
      the brain).
FAU - Mader, I
AU  - Mader I
AD  - Section of Experimental MR of the CNS, Department of Neuroradiology, Tubingen 
      University School of Medicine, Germany. irina.mader@med.uni-tuebingen.de
FAU - Krageloh-Mann, I
AU  - Krageloh-Mann I
FAU - Seeger, U
AU  - Seeger U
FAU - Bornemann, A
AU  - Bornemann A
FAU - Nagele, T
AU  - Nagele T
FAU - Kuker, W
AU  - Kuker W
FAU - Grodd, W
AU  - Grodd W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Neuropediatrics
JT  - Neuropediatrics
JID - 8101187
RN  - 30KYC7MIAI (Aspartic Acid)
RN  - 33X04XA5AT (Lactic Acid)
RN  - 997-55-7 (N-acetylaspartate)
RN  - MU72812GK0 (Creatine)
RN  - N91BDP6H0X (Choline)
SB  - IM
MH  - Aspartic Acid/*analogs & derivatives/metabolism
MH  - Basal Ganglia/pathology
MH  - Cerebellum/pathology
MH  - Cerebral Cortex/pathology
MH  - Child
MH  - Child, Preschool
MH  - Choline/metabolism
MH  - Consanguinity
MH  - Creatine/metabolism
MH  - Female
MH  - Humans
MH  - Lactic Acid/*metabolism
MH  - *Magnetic Resonance Imaging
MH  - *Magnetic Resonance Spectroscopy
MH  - Male
MH  - Neuroaxonal Dystrophies/*diagnosis/genetics/pathology
MH  - Neurologic Examination
EDAT- 2001/06/21 10:00
MHDA- 2002/01/05 10:01
CRDT- 2001/06/21 10:00
PHST- 2001/06/21 10:00 [pubmed]
PHST- 2002/01/05 10:01 [medline]
PHST- 2001/06/21 10:00 [entrez]
AID - 10.1055/s-2001-13874 [doi]
PST - ppublish
SO  - Neuropediatrics. 2001 Apr;32(2):97-100. doi: 10.1055/s-2001-13874.