Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/834
Título: Galactosemia: the genotype and phenotype of seven patients
Outros títulos: Galactosemia: genotipo y fenotipo de siete pacientes
Autor: MARTINS, E.
TEIXEIRA, J.
CARDOSO, M.
LIMA, M.
BRIONES‐GODINO, P.
BARBOT, C.
Data: Jun-2004
Resumo: Rev Neurol. 2004 Jun 16-30;38(12):1132-5. [Galactosemia: the genotype and phenotype of seven patients]. [Article in Spanish] Martins E, Teixeira J, Cardoso ML, Lima MR, Briones-Godino P, Barbot C. SourceUnidad de Metabolismo, Hospital de Niños Maria Pia, Oporto, Portugal. npo38871@mail.telepac.pt Abstract INTRODUCTION: Despite early dietary therapy, many patients with galactosemia show a neurodegenerative disease specially evident in speech impairment and movement disorders. Magnetic resonance imaging of the brain, show cerebral white matter changes with hypomielinization bilateral and symetrical periventricular hypersignal in T2. PATIENTS AND METHODS: We presented clinical and neuroradiological data of seven children (3 to 12 years of age) with classical galactosemia. All had a typical presentation in neonatal period. Two children had normal development (10 and 12 years-old), four presented developmental delay (10, 7, 4 and 3 years-old), and one showed a dystonic cerebral palsy (kernicterus). RESULTS: The brain MRI showed the typical involvement of white matter, in five children, and basal ganglia abnormalities in the kernicterus patient. Three patients are homozygous for Q188R mutation and two are compound heterozygous. CONCLUSION: We found a positive correlation among developmental delay, white matter involvement and Q188R mutation.
Peer review: yes
URI: http://hdl.handle.net/10400.16/834
ISSN: 0210-0010
Versão do Editor: http://www.revneurol.com/sec/resumen.php?or=pubmed&id=2002564#comment
Aparece nas colecções:SN - Artigos publicados em revistas indexadas na Medline

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