Adult Onset Episodic Encephalopathy Due to Citrin Deficiency—A Case Report

• DOI: 10.4103/aian.aian_175_23
• Publication Date: 2023-05-20T13:00:23Z
• Authors: Dipti Baskar; Vathsala Lakshmi; Atchayaram Nalini; Gautham Arunachal; Maya Dhattatraya ...; Nandakumar Dalava...; Ravi Yadav; Ravindranadh Chow...; Pritam Raja; Ambati Mounika; PS Sharath; Seena Vengalil
• Keywords: Hyperammonemia; Citrullinemia; Hepatic Encephalopathy

Abstract Hyperammonemia is a rare cause of adult episodic encephalopathy. Citrin deficiency resulting in citrullinemia type 2 (CTLN2) can lead to recurrent delirium adults. Here we report case onset encephalopathy due citrin deficiency. A 40 years old male presented with one-year history triggered by high protein and fat diet. He also had chronic pancreatitis subacute intestinal obstruction which novel manifestation CTLN2. Evaluation showed elevated blood liver enzymes, ammonia, citrulline. MRI brain frontal hyperintensities bulky basal ganglia have not been reported. Diagnosis was confirmed next-generation sequencing variant c. 1591G > exon15 SLC25A13 . Hyperammonemic syndromes should be considered differential diagnosis This shows features findings CTLN2 expanding spectrum manifestation.