Adult onset episodic encephalopathy due to citrin deficiency—A case report
Hyperammonemia is a rare cause of adult episodic encephalopathy. Citrin deficiency resulting in citrullinemia type 2 (CTLN2) can lead to recurrent delirium in adults. Here we report a case of adult onset episodic encephalopathy due to citrin deficiency. A 40 years old male presented with one-year hi...
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-01-01
|
| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=4;spage=553;epage=555;aulast=Baskar |
| _version_ | 1797649532276703232 |
|---|---|
| author | Dipti Baskar Vathsala Lakshmi Atchayaram Nalini Gautham Arunachal Maya Dhattatraya Bhat Nandakumar Dalavaikodihalli Nanjaiah Ravi Yadav Ravindranadh Chowdary Pritam Raja Ambati Mounika P S Sharath Seena Vengalil |
| author_facet | Dipti Baskar Vathsala Lakshmi Atchayaram Nalini Gautham Arunachal Maya Dhattatraya Bhat Nandakumar Dalavaikodihalli Nanjaiah Ravi Yadav Ravindranadh Chowdary Pritam Raja Ambati Mounika P S Sharath Seena Vengalil |
| author_sort | Dipti Baskar |
| collection | DOAJ |
| description | Hyperammonemia is a rare cause of adult episodic encephalopathy. Citrin deficiency resulting in citrullinemia type 2 (CTLN2) can lead to recurrent delirium in adults. Here we report a case of adult onset episodic encephalopathy due to citrin deficiency. A 40 years old male presented with one-year history of episodic encephalopathy triggered by high protein and fat diet. He also had chronic pancreatitis and subacute intestinal obstruction which is a novel manifestation of CTLN2. Evaluation showed elevated blood liver enzymes, ammonia, and citrulline. MRI brain showed frontal hyperintensities and bulky basal ganglia which have not been reported. Diagnosis was confirmed by next-generation sequencing which showed a novel variant c. 1591G > A in exon15 of SLC25A13. Hyperammonemic syndromes should be considered in differential diagnosis of episodic encephalopathy in adults. This report shows novel features of subacute intestinal obstruction and MRI findings in CTLN2 expanding spectrum of manifestation. |
| first_indexed | 2024-03-11T15:47:31Z |
| format | Article |
| id | doaj.art-d791157cf2a043dc9d7ee40265268405 |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-03-11T15:47:31Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-d791157cf2a043dc9d7ee402652684052023-10-26T05:44:42ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492023-01-0126455355510.4103/aian.aian_175_23Adult onset episodic encephalopathy due to citrin deficiency—A case reportDipti BaskarVathsala LakshmiAtchayaram NaliniGautham ArunachalMaya Dhattatraya BhatNandakumar Dalavaikodihalli NanjaiahRavi YadavRavindranadh ChowdaryPritam RajaAmbati MounikaP S SharathSeena VengalilHyperammonemia is a rare cause of adult episodic encephalopathy. Citrin deficiency resulting in citrullinemia type 2 (CTLN2) can lead to recurrent delirium in adults. Here we report a case of adult onset episodic encephalopathy due to citrin deficiency. A 40 years old male presented with one-year history of episodic encephalopathy triggered by high protein and fat diet. He also had chronic pancreatitis and subacute intestinal obstruction which is a novel manifestation of CTLN2. Evaluation showed elevated blood liver enzymes, ammonia, and citrulline. MRI brain showed frontal hyperintensities and bulky basal ganglia which have not been reported. Diagnosis was confirmed by next-generation sequencing which showed a novel variant c. 1591G > A in exon15 of SLC25A13. Hyperammonemic syndromes should be considered in differential diagnosis of episodic encephalopathy in adults. This report shows novel features of subacute intestinal obstruction and MRI findings in CTLN2 expanding spectrum of manifestation.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=4;spage=553;epage=555;aulast=Baskarcitrullinemiaepisodic encephalopathyhyperammonemia |
| spellingShingle | Dipti Baskar Vathsala Lakshmi Atchayaram Nalini Gautham Arunachal Maya Dhattatraya Bhat Nandakumar Dalavaikodihalli Nanjaiah Ravi Yadav Ravindranadh Chowdary Pritam Raja Ambati Mounika P S Sharath Seena Vengalil Adult onset episodic encephalopathy due to citrin deficiency—A case report Annals of Indian Academy of Neurology citrullinemia episodic encephalopathy hyperammonemia |
| title | Adult onset episodic encephalopathy due to citrin deficiency—A case report |
| title_full | Adult onset episodic encephalopathy due to citrin deficiency—A case report |
| title_fullStr | Adult onset episodic encephalopathy due to citrin deficiency—A case report |
| title_full_unstemmed | Adult onset episodic encephalopathy due to citrin deficiency—A case report |
| title_short | Adult onset episodic encephalopathy due to citrin deficiency—A case report |
| title_sort | adult onset episodic encephalopathy due to citrin deficiency a case report |
| topic | citrullinemia episodic encephalopathy hyperammonemia |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=4;spage=553;epage=555;aulast=Baskar |
| work_keys_str_mv | AT diptibaskar adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT vathsalalakshmi adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT atchayaramnalini adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT gauthamarunachal adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT mayadhattatrayabhat adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT nandakumardalavaikodihallinanjaiah adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT raviyadav adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT ravindranadhchowdary adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT pritamraja adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT ambatimounika adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT pssharath adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport AT seenavengalil adultonsetepisodicencephalopathyduetocitrindeficiencyacasereport |