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