International Journal of Preventive Medicine Research
Articles Information
International Journal of Preventive Medicine Research, Vol.1, No.2, Jun. 2015, Pub. Date: May 14, 2015
Toxic Gangrenous Megacolon: A Novel Surgical Emergency in MELAS
Pages: 17-21 Views: 3915 Downloads: 1249
[01] Sivakumar Gopalswamy, Department of Surgery, Royal Cornwall Hospital, Truro, Cornwall, UK.
[02] Joseph Mathew, Department of Pathology, Royal Cornwall Hospital, Truro, Cornwall, UK.
MELAS syndrome (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke like episodes) is a syndrome in which signs and symptoms of gastro-intestinal disease are uncommon, if not rare. We describe a young female patient who presented as an acute surgical emergency, diagnosed as toxic mega colon necessitating an emergency total colectomy; the diagnosis of MELAS syndrome was made post-operatively. This diagnosis should be considered in patients presenting with acute ischemic colitis or toxic mega colon who have persistent lactic acidosis with encephalopathy and a stormy post-operative course.
Encephalopathy, Lactic Acidosis, MELAS, Toxic Colon
[01] Hess J, Burkhard P, Morris M, Lalioti M, Myers P, Hadengue A. Ischaemic colitis due to mitochondrial cytopathy. Lancet 1995; 346:189-90.
[02] Cohen BH, Gold DR. Mitochondrial cytopathy in adults: what we know so far. Cleve Clin J Med 2001; 68:625-6.
[03] Seidowsky A, Hoffmann M, Glowacki F, Dhaenens CM, Devaux JP, Lessore de Sainte Foy C, et al. Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature. Clin Nephrol. Aug 21 2012.
[04] Meseguer S, Martínez-Zamora A, García-Arumí E, Andreu AL, Armengod ME. The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome. Hum Mol Genet. Aug 22 2014.
[05] Garcia-Velasco A, Gomez-Escalonilla C, Guerra-Vales JM, Cabello A, Campos Y, Arenas J. Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease. J Intern Med 2003 Mar; 253:381-5.
[06] Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K. Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS. Am J Med Genet A. Feb 15 2009;149A(4):584-7.
[07] Liu K, Zhao H, Ji K, Yan C. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation. Metab Brain Dis. Mar 2014;29(1):139-44.
[08] Sasarman F, Antonicka H, Shoubridge EA. The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. Hum Mol Genet. Dec 1 2008;17(23):3697-707.
[09] Testai FD, Gorelick PB. Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Arch Neurol. Jan 2010;67(1):19-24.
[10] Nemes A, Geleijnse ML, Sluiter W, Vydt TC, Soliman OI, van Dalen BM. Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation. Swiss Med Wkly. Feb 21 2009;139(7-8):117-20.
[11] Chang TM, Chi CS, Tsai CR, Lee HF, Li MC. Paralytic ileus in MELAS with phenotypic features of MNGIE. Pediatr Neurol 2004; 31:374-7.
[12] Muehlenberg K, Fiedler A, Schaumann I, Muller-Felber W, Wiedmann KH. Intestinal pseudo-obstructions and gastric necrosis in mitochondrial myopathy Dtsch Med Wochenschr 2002 Mar 22; 127:611-5.
[13] Hiel JA, Verrips A, Keyser A, Jansen TL, Wesseling P, de Coo R, Gabreels FJ.Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. Neth J Med 1998; 53:27-31.
[14] Inoue K, Ikegami H, Fujisawa T, Kawabata Y, Shintani M, Nijima K, Masaya O, Nishino M, Itoi-Babaya M, Babaya N, Ogihara T. High degree of mitochondrial 3243 mutation in gastric biopsy specimen in a patient with MELAS and diabetes complicated by marked gastrointestinal abnormalities. Diabetes Care 2003; 26:2219.
[15] Fujii A, Yoneda M, Ohtani M, Nakagawa H, Kumano T, Hayashi K, Muramatsu A, Takabatake S, Ibi T, Sahashi K, Azuma T, Kuriyama M. Gastric dysmotility associated with accumulation of mitochondrial A3243G mutation in the stomach. Intern Med 2004; 43:1126-30.
[16] Shimotake T, Furukawa T, Inoue K, Iwai N, Takeuchi Y. Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). J Pediatr Surg 1998; 33:1837-9.
MA 02210, USA
AIS is an academia-oriented and non-commercial institute aiming at providing users with a way to quickly and easily get the academic and scientific information.
Copyright © 2014 - American Institute of Science except certain content provided by third parties.