-Related Disorder (EIEE-50) in an Infant With Cortical Visual Impairment.

PURPOSE

To document the association of -related disorder (EIEE-50) with cortical visual impairment.

OBSERVATIONS

An 8-month-old Caucasian boy with whole genome sequencing confirming 2 variants in the gene , who presented with severe seizures, microcephaly, hyperreflexia, hypotonia, anemia, and severe cortical visual impairment. Magnetic resonance imaging (MRI) of the brain noted thickened cortical gray matter along the right calcarine fissure as well as changes suggesting malformation of cortical development. Empiric uridine monophosphate supplementation has significantly improved seizure activity, hypotonia, and development and has led to resolution of anemia.

CONCLUSIONS AND IMPORTANCE

-related disorder is treatable and may affect visual cortical development causing severe secondary cortical visual impairment, a newly described clinical manifestation.