Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency

We report the case of a 3-year-old male patient who presented with a 3-day history of altered mental status, emesis, and abdominal pain in the setting of a viral illness. A rapid screening revealed a high ammonia level and after reviewing his proton magnetic resonance spectroscopy (1H MRS) which showed the classic triad of high glutamate, low choline, and myoinositol, a diagnosis of ornithine transcarbamylase deficiency (OTCD) was made within 6hours of presentation. Therapy with sodium phenylbutyrate and sodium benzoate was initiated and patient was discharged after 3 days with no neurologic disability. Biochemical and molecular testing eventually confirmed the diagnosis. 1H MRS is a practical and fast neuroimaging modality that can aid in diagnosis of OTCD and enables faster initiation of treatment in acute settings.

Automated summary

A 3-year-old male patient with viral illness presented with altered mental status, emesis, and abdominal pain, leading to a quick diagnosis of ornithine transcarbamylase deficiency (OTCD) using proton magnetic resonance spectroscopy (1H MRS). Treatment with sodium phenylbutyrate and sodium benzoate initiated promptly, resulting in discharge after 3 days with no neurologic deficits. 1H MRS is a valuable tool for rapid diagnosis and treatment initiation in cases of OTCD in acute settings.