Krabbe disease: Case report

Introduction Diagnosis of metabolic disease is useful in families at risk for perform genetic counseling. We report the case of a boy of 13 months for a progressive deterioration of psychomotor acquisitions. In history there was parental consanguinity. MRI studies revealed a diffuse bilateral and symmetrical hyper intensities, periventricular, lenticular nuclei and cerebellar dentate nuclei in T2 and Flair associated to hypointensities in both thalami. Bêtagalactocérébrosidase assay in child and both parents has doing the diagnosis of Krabbe disease. Conclusion: It is necessary to look for a metabolic disease on a child who has presented a decline of psychomotor acquisitions but in Africa the insufficiency of medical care limits this possibility.