瓜氨酸血症，一种复发性脑病的罕见病因。
Citrullinemia, a rare cause of recurring encephalopathy.
作者信息
Goswami J N, Simalti A K, Mishra Atul
机构信息
Senior Advisor (Pediatrics) & Pediatric Neurologist, Army Hospital R & R, Delhi Cantt. 110010, India.
Classified Specialist (Pediatrics) & Trained in Pediatric Intensive Care, Army Hospital (R & R), Delhi Cantt. 110010, India.
出版信息
Med J Armed Forces India. 2022 Sep;78(Suppl 1):S319-S322. doi: 10.1016/j.mjafi.2019.12.007. Epub 2020 Mar 19.
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.
摘要
一名婴儿反复出现脑病发作，对败血症的非特异性治疗有反应。高度怀疑有助于发现潜在的代谢紊乱。
相似文献
1
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.
2
Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
Exp Clin Transplant. 2015 Nov;13 Suppl 3:126-30. doi: 10.6002/ect.tdtd2015.P69.
3
Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation.
Indian J Pediatr. 2019 Jul;86(7):639-641. doi: 10.1007/s12098-019-02905-8. Epub 2019 Mar 8.
4
[Citrullinemia type I with recurrent liver failure in a child].
Arch Argent Pediatr. 2017 Feb 1;115(1):e39-e42. doi: 10.5546/aap.2017.e39.
5
Localized proton MR spectroscopy in infants with urea cycle defect.
AJNR Am J Neuroradiol. 2001 May;22(5):834-7.
6
Magnetic resonance spectroscopy in adult-onset citrullinemia: elevated glutamine levels in comatose patients.
Arch Neurol. 2007 Jul;64(7):1034-7. doi: 10.1001/archneur.64.7.1034.
7
MRI in a case of adult-onset citrullinemia.
Neuroradiology. 2001 Oct;43(10):845-7. doi: 10.1007/s002340100608.
8
Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation.
Cureus. 2021 May 19;13(5):e15109. doi: 10.7759/cureus.15109.
9
Liver transplantation for neonatal-onset citrullinemia.
Pediatr Transplant. 2018 Jun;22(4):e13191. doi: 10.1111/petr.13191. Epub 2018 May 3.
10
Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis.
World J Gastroenterol. 2017 Nov 28;23(44):7930-7938. doi: 10.3748/wjg.v23.i44.7930.
本文引用的文献
1
Late-Onset Citrullinemia Type I: A Radiological Mimic of Herpes Encephalitis.
J Pediatr Neurosci. 2019 Jan-Mar;14(1):36-37. doi: 10.4103/jpn.JPN_12_18.
2
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15.
3
Challenges in diagnosing and managing adult patients with urea cycle disorders.
J Inherit Metab Dis. 2019 Nov;42(6):1136-1146. doi: 10.1002/jimd.12096. Epub 2019 May 8.
4
Magnetic resonance imaging findings and neurodevelopmental outcomes in neonates with urea-cycle defects.
Int Med Case Rep J. 2013 Aug 19;6:41-8. doi: 10.2147/IMCRJ.S43513. eCollection 2013.
5
Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile.
Pediatr Int. 2006 Apr;48(2):105-11. doi: 10.1111/j.1442-200X.2006.02181.x.
6
Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy.
Mol Genet Metab. 2005 Sep-Oct;86(1-2):2-9. doi: 10.1016/j.ymgme.2005.07.009.
7
Urea cycle defects: management and outcome.
J Inherit Metab Dis. 2005;28(3):407-14. doi: 10.1007/s10545-005-0303-7.
8
Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation.
Eur J Pediatr. 2003 Jun;162(6):410-6. doi: 10.1007/s00431-003-1188-9. Epub 2003 Mar 27.
9
Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis.
J Pediatr. 1999 Mar;134(3):268-72. doi: 10.1016/s0022-3476(99)70448-8.
Zotero 插件