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DOI: 10.1055/s-2005-836848
© Georg Thieme Verlag Stuttgart · New York
L-2-Hydroxy-Glutarazidurie - eine seltene Differenzialdiagnose der Makrozephalie
L-2-Hydroxyglutaric Aciduria - A Rare Cause of MacrocephalyPublication History
Publication Date:
28 February 2006 (online)
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Zusammenfassung
Wir berichten über ein neunjähriges Mädchen, welches wegen einer progredienten Makrozephalie und Schulschwierigkeiten vorgestellt wurde. Neben einer Lernbehinderung fand sich klinisch eine milde spastisch-ataktische Bewegungsstörung. Im MRT zeigten sich ausgedehnte Signalveränderungen der weißen Substanz. Biochemisch wurde eine L-2-Hydroxy-Glutarazidurie nachgewiesen, die als seltene Differenzialdiagnose bei der Makrozephalie berücksichtigt werden muss.
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.
Schlüsselwörter
Makrozephalie - Leukenzephalopathie - L-2-Hydroxy-Glutarazidurie
Key words
macrocephaly - leukoencephalopathy - L-2-hydroxyglutaric aciduria
Literatur
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Dr. O. Hußmann
Abteilung für Neuropädiatrie und Sozialpädiatrie · Zentrum für Kinderheilkunde
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35392 Gießen
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Email: Olaf.Hussmann@paediat.med.uni-giessen.de