Abstract |
We report on a 9-year-old girl who was referred to our department because of increasing macrocephaly and school problems. The neurological examination disclosed mild cerebellar dysfunction and positive pyramidal tract signs. An MRI of the brain revealed extensive signal alterations of the white matter. Biochemical investigations established the diagnosis of L-2-hydroxyglutaric aciduria which has to be kept in mind as a rare cause of macrocephaly.
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Authors | O Hussmann, D Haas, B A Neubauer, B Kruse, M Huegens-Penzel, C Jakobs, A Hahn |
Journal | Klinische Padiatrie
(Klin Padiatr)
Vol. 218
Issue 2
Pg. 72-3
( 2006)
ISSN: 0300-8630 [Print] Germany |
Vernacular Title | L-2-Hydroxy-Glutarazidurie -- eine seltene Differenzialdiagnose der Makrozephalie. |
PMID | 16506106
(Publication Type: Case Reports, Comparative Study, English Abstract, Journal Article)
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Chemical References |
- Glutarates
- Hydroxy Acids
- alpha-hydroxyglutarate
- glutaric acid
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Topics |
- Adolescent
- Age Factors
- Brain
(pathology)
- Brain Diseases, Metabolic, Inborn
(diagnosis, pathology, urine)
- Child
- Child, Preschool
- Female
- Glutarates
(urine)
- Humans
- Hydroxy Acids
(urine)
- Infant
- Intellectual Disability
(etiology)
- Magnetic Resonance Imaging
- Neurologic Examination
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