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J Pediatr Genet 2021; 10(01): 077-080
DOI: 10.1055/s-0040-1709670
Case Report

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

Kuntal Sen 
1   Division of Neurogenetics and Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, District of Columbia, United States
,
Carlos Castillo Pinto
2   Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, District of Columbia, United States
,
Andrea L. Gropman
1   Division of Neurogenetics and Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, District of Columbia, United States
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Abstract

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 6 hours 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.

Keywords

partial OTC deficiency - proton MR spectroscopy - multimodal neuroimaging


Publication History

Received: 03 February 2020

Accepted: 11 March 2020

Article published online:
23 April 2020

© 2020. Thieme. All rights reserved.

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