Childhood-Onset Neurodegeneration with Brain Atrophy in Association with c.628G>A in UBTF Gene

To the Editor: A 10-y-old-boy, firstborn to non-consanguineous parents with a normal perinatal period, presented with developmental delay till three years of age, followed by neuroregression in motor, social, and cognitive domains since three years of age. He also had a history of myoclonic seizures and frequent falls while walking. There was no significant family history. On examination, he had microcephaly, spasticity, and brisk deep tendon reflexes (DTRs). He had a low intelligence quotient (IQ <70) suggestive of intellectual disability. Neuroimaging revealed significant cerebral, central cerebellar atrophy and diffuse white matter T2 hyperintensities. The differentials considered were neuronal ceroid lipofuscinoses, infantile neuroaxonal dystrophy, hypomyelinating leukodystrophy, and Lafora disease. Genetic testing revealed a pathogenic heterozygous missense variation c.628G>A(p.Glu210Lys) in exon 7 of UBTF gene (chr17:g.44212851C>T; Depth:169x) resulting in amino acid substitution of lysine for glutamic acid at codon 210, suggestive of Childhood-onset neurodegeneration with brain atrophy (CONDBA). …