TY - JOUR
T1 - Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia
T2 - Clinical and biochemical considerations
AU - Bergman, A. J.I.W.
AU - Van Der Knaap, M. S.
AU - Smeitink, J. A.M.
AU - Duran, M.
AU - Dorland, L.
AU - Valk, J.
AU - Poll-The, B. T.
PY - 1996/9
Y1 - 1996/9
N2 - Three patients with propionic acidemia were studied. The first patient was diagnosed at the age of 9 mo, 3 mo after he developed hypotonia and choreoathetoid movements after an upper respiratory tract infection. The second patient was diagnosed at the age of 1.5 mo when she became comatose after nasogastric tube feeding because of failure to thrive. The third patient was diagnosed at the age of 5 d when she presented with feeding difficulties, hypotonia, and respiratory insufficiency. Magnetic resonance imaging (MRI) of the brain in all patients revealed delayed myelination and some cerebral atrophy. In the patient with choreoathetosis, MRI showed bilateral abnormalities in the signal intensity of the putamen and caudate nuclei. MRI of the other two patients showed normal basal ganglia. Proton magnetic resonance spectroscopy (1H MRS) from a voxel located in the basal ganglia revealed a decrease in N-acetylaspartate and myo-inositol peaks and an elevation of glutamine/glutamate. The presence of spectroscopic abnormalities in a stable metabolic condition, in particular the rise in glutamine/glutamate, indicates that the metabolic balance on cerebral parenchymal level is less optimal than estimated from biochemical analysis of urine, plasma, or cerebrospinal fluid.
AB - Three patients with propionic acidemia were studied. The first patient was diagnosed at the age of 9 mo, 3 mo after he developed hypotonia and choreoathetoid movements after an upper respiratory tract infection. The second patient was diagnosed at the age of 1.5 mo when she became comatose after nasogastric tube feeding because of failure to thrive. The third patient was diagnosed at the age of 5 d when she presented with feeding difficulties, hypotonia, and respiratory insufficiency. Magnetic resonance imaging (MRI) of the brain in all patients revealed delayed myelination and some cerebral atrophy. In the patient with choreoathetosis, MRI showed bilateral abnormalities in the signal intensity of the putamen and caudate nuclei. MRI of the other two patients showed normal basal ganglia. Proton magnetic resonance spectroscopy (1H MRS) from a voxel located in the basal ganglia revealed a decrease in N-acetylaspartate and myo-inositol peaks and an elevation of glutamine/glutamate. The presence of spectroscopic abnormalities in a stable metabolic condition, in particular the rise in glutamine/glutamate, indicates that the metabolic balance on cerebral parenchymal level is less optimal than estimated from biochemical analysis of urine, plasma, or cerebrospinal fluid.
UR - http://www.scopus.com/inward/record.url?scp=0029787140&partnerID=8YFLogxK
U2 - https://doi.org/10.1203/00006450-199609000-00007
DO - https://doi.org/10.1203/00006450-199609000-00007
M3 - Article
C2 - 8865276
SN - 0031-3998
VL - 40
SP - 404
EP - 409
JO - Pediatric Research
JF - Pediatric Research
IS - 3
ER -