Citrullinemia, a rare cause of recurring encephalopathy

J N Goswami; A K Simalti; Atul Mishra

doi:10.1016/j.mjafi.2019.12.007

Citrullinemia, a rare cause of recurring encephalopathy

Med J Armed Forces India. 2022 Sep;78(Suppl 1):S319-S322. doi: 10.1016/j.mjafi.2019.12.007. Epub 2020 Mar 19.

Authors

J N Goswami¹, A K Simalti², Atul Mishra³

Affiliations

¹ Senior Advisor (Pediatrics) & Pediatric Neurologist, Army Hospital R & R, Delhi Cantt. 110010, India.
² Classified Specialist (Pediatrics) & Trained in Pediatric Intensive Care, Army Hospital (R & R), Delhi Cantt. 110010, India.
³ Senior Advisor (Radiology) & Intervention Radiologist, Army Hospital (R & R), Delhi Cantt. 110010, India.

Abstract

An infant presented with recurrent episodes of encephalopathy, responding to nonspecific management of sepsis. High index of suspicion helped uncover underlying error of metabolism.

Keywords: Citrullinemia; Metabolic encephalopathy; Urea cycle defect.

Publication types

Case Reports