Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Stöckler, S; Radner, H; Karpf, EF; Hauer, A; Ebner, F.
Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency).
J Pediatr. 1994; 124(4):601-604
Doi: 10.1016/S0022-3476(05)83142-7
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
- Ebner Franz
- Hauer Almuthe
- Kampelmühler Eva
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- Abstract:
- Symmetric hypoplasia of the temporal cerebral lobes was demonstrated by magnetic resonance imaging of the brain in a macrocephalic male patient with glutaric aciduria type II within the first week of life. Psychomotor development was normal until the age of 11 months, when the patient died of sudden cardiac arrest. Autopsy revealed symmetric hypoplasia of the temporal cerebral lobes with loss of axons and hypomyelination in the temporal medullary layers.
- Find related publications in this database (using NLM MeSH Indexing)
- Fatal Outcome -
- Fatty Acid Desaturases - deficiency
- Glutarates - urine
- Humans - urine
- Infant, Newborn - urine
- Magnetic Resonance Imaging - urine
- Male - urine
- Metabolism, Inborn Errors - pathology
- Multienzyme Complexes - deficiency
- Myelin Sheath - pathology
- Temporal Lobe - abnormalities