Author(s):
MARTINS, E. 
; TEIXEIRA, J. ; CARDOSO, M. ; LIMA, M. ; BRIONES‐GODINO, P. ; BARBOT, C.
Date: 2004
Persistent ID: http://hdl.handle.net/10400.16/834
Origin: Repositório Científico do Centro Hospitalar do Porto
Description
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.
