Treatable cause of leukodystrophy: Galactosaemia

Galactosaemia is a group of autosomal recessive metabolic disorders characterised by increased blood levels galactose. It cataracts, organomegaly, sepsis and developmental delay. We are reporting case galactosaemia presenting as neurodegenerative disease with leukodystrophy-like presentation. An 11-month-old boy born to second-degree consanguineously married couple presented delay, vomiting, lethargy refusal feeds. Examination showed normocephaly, cataract, hepatomegaly spasticity in all limbs exaggerated deep tendon reflexes. Magnetic resonance imaging (MRI) the brain was suggestive diffuse hyperintensities periventricular, subcortical white matter on T2WI. Plasma galactose were high (3784.0 u M/L) RBC Galactose 1-Phosphate uridylyltransferase (GALT) enzyme low (<0.04). Genetic testing homozygous missense mutation c.428C>T (p.Ser143Leu) exon 5 GALT gene. For any child who presents hepatomegaly, delay leukodystrophy picture an MRI brain, treatable cause should be considered.