Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome.

Krabbe disease is an autosomal recessive, rare affliction characterised by progressive demyelination with neurodegeneration and peripheral nerve involvement. This report describes unique presentations in two children with cerebral calcifications. A female infant born to non-consanguineous parents presented with posturing and tightening of limbs, multiple paroxysmal events, loss of attained milestones and feeding difficulty. Second, a female infant presented with posturing since birth and sound-induced startles from a few weeks after birth. Examination in both children revealed microcephaly, bilateral optic atrophy, spastic quadriparesis with dystonia, decreased power and sluggish deep tendon reflexes. Neuroimaging showed calcifications in the bilateral thalami and dentate nucleus. Genetic analysis revealed a GALC homozygous mutation, confirming the diagnosis. Although cerebral calcifications are not a typical feature of Krabbe disease, their presence in the context of infantile spasticity and neurodegeneration should prompt consideration of Krabbe disease, particularly when supported by confirmatory genetic testing.