Transient Cortical Blindness in a Toddler With Heterozygous Ornithine Transcarbamylase Deficiency

Abstract

Ornithine transcarbamylase (OTC) deficiency is an incredibly rare disease in the subgroup of urea cycle disorders. Although typically seen in the neonate shortly after initiating high protein feeds (human breastmilk or infant formula), patients with partial/heterozygous deficiencies can often be diagnosed later in life with unique sequelae. One such manifestation is sudden, transient vision loss shortly after an initial episode of hyperammonemia in a patient without a known diagnosis of OTC deficiency. Only two such occurrences are documented in academic literature and both share many similar presenting features hinting that a hidden, but the consistent pathophysiologic mechanism of this disease is at play. Scarce research is available to propose a concise explanation; however, recent advancements in the literature point toward the brain's inability to uptake glucose and convert it into glutamate in patients with partial OTC deficiency as a likely explanation.