[Galactosemia: the genotype and phenotype of seven patients].
BACKGROUND
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.


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.


CONCLUSIONS
We found a positive correlation among developmental delay, white matter involvement and Q188R mutation.
Martins
E
E
Unidad de Metabolismo, Hospital de Niños Maria Pia, Oporto, Portugal. npo38871@mail.telepac.pt
Teixeira
J
J
Cardoso
M L
ML
Lima
M R
MR
Briones-Godino
P
P
Barbot
C
C
D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D005693:Galactosemias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D009069:Movement Disorders / Q000473:pathology / Q000503:physiopathology; D019636:Neurodegenerative Diseases / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D013064:Speech Disorders / Q000473:pathology / Q000503:physiopathology