Gastrointestinal complications of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome managed by parenteral nutrition
  • Simona Horná
    Clinic of Internal Medicine I, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, and University Hospital in Martin, Martin, Slovakia
  • Martin Jozef Péč
    Clinic of Internal Medicine I, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, and University Hospital in Martin, Martin, Slovakia
  • Juraj Krivuš
    Clinic of Internal Medicine I, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, and University Hospital in Martin, Martin, Slovakia
  • Renáta Michalová
    Clinic of Internal Medicine I, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, and University Hospital in Martin, Martin, Slovakia
  • Štefan Sivák
    Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, and University Hospital in Martin, Martin, Slovakia
  • Peter Galajda
    Clinic of Internal Medicine I, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, and University Hospital in Martin, Martin, Slovakia
  • Marián Mokáň
    Clinic of Internal Medicine I, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, and University Hospital in Martin, Martin, Slovakia

Keywords

MELAS, nutrition, superior mesenteric artery syndrome

Abstract

MELAS – an acronym for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes – is a multiorgan disease caused by a mutation in mitochondrial DNA (mtDNA). Its clinical manifestations are highly variable; mainly stroke-like episodes, seizures, recurrent headaches, or muscle weakness. However, gastrointestinal complications such as chronic intestinal pseudo-obstruction (IPO), pancreatitis, gastroparesis and hepatopathy are also common. In this report we describe a young patient with gastrointestinal complication of MELAS which led to superior mesenteric artery syndrome (SMAS). It is rare but not surprising combination and should be considered in cases with significant weight loss and resistance to symptomatic treatment. The optimal energy support is the main pillar of the treatment.

VIEW THE ENTIRE ARTICLE

References

  • Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481–488.
  • Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, et al. MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim Biophys Acta 2012;1820:619–624.
  • Pia S, Lui F. Melas Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan.
  • Kobayashi Y, Momoi MY, Tominaga K, Momoi T, Nihei K, Yanagisawa M, et al. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990;173:816–822.
  • Goto Y, Nonaka I, Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1991;1097:238–240.
  • El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab 2015;116:4–12.
  • Finsterer J, Frank M. Gastrointestinal manifestations of mitochondrial disorders: a systematic review. Therap Adv Gastroenterol 2017;10:142–154.
  • Betts J, Barron MJ, Needham SJ, Schaefer AM, Taylor RW, Turnbull DM. Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation. Neurology 2008;70:1290–1292.
  • Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, et al. Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. Ann Neurol 2016;80:686-692.
  • Kishimoto M, Hashiramoto M, Kanda F, Tanaka M, Kasuga M. Mitochondrial mutation in diabetic patient with gastrointestinal symptoms. Lancet 1995;345:452.
  • Kuroiwa T, Kuwata T, Nakayama T, Takemura T, Sakuta M, Ichinose S, et al. Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy. Acta Neuropathol 1998;96:86–90.
  • Belal S, Goudenege D, Bocca C, Dumont F, Chao De La Barca JM, Desquiret-Dumas V, et al. Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure. Biomedicines 2022;10:1665.
  • Seessle J, Stremmel W, Ebinger F, Merle U. An unusual case of paralytic ileus. Z Gastroenterol 2012;50:1161-1165.
  • Perez-Cruz E, Gonzalez-Rivera C, Valencia-Olvera LdCG, Perez-Cruz E, Gonzalez-Rivera C, Valencia-Olvera LDCG. Immunonutrition for the acute treatment of MELAS syndrome. Endocrinol Diabetes Nutr 2021;28:S2530-0164(21)00151-8.
  • National Institute for Health and Clinical Excellence. Nutrition support in adults Clinical guideline CG32. 2006. [cited 2023 Nov 27]. Available from: www.nice.org.uk/page.aspx?o=cg032 .
  • Lim JE, Duke GL, Eachempati SR. Superior mesenteric artery syndrome presenting with acute massive gastric dilatation, gastric wall pneumatosis, and portal venous gas. Surgery 2003;134:840–843.
  • Baber YF, O’Donnell C. Sudden Death Due to Undiagnosed Wilkie Syndrome. Am J Forensic Med Pathol 2016;37:54-56.
  • Unal B, Aktas A, Kemal G, Bilgili Y, Guliter S, Daphan C, et al. Superior mesenteric artery syndrome: CT and ultrasonography findings. Diagn Interv Radiol 2005;11:90-95.
  • Van Horne N, Jackson JP. Superior Mesenteric Artery Syndrome. [Updated 2021 Jul 21]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021.
  • Gerasimidis T, George F. Superior mesenteric artery syndrome. Wilkie syndrome. Dig Surg 2009;26:213–214.
  • Ko KH, Tsai SH, Yu CY, Huang GS, Liu CH, Chang WC. Unusual complication of superior mesenteric artery syndrome: spontaneous upper gastrointestinal bleeding with hypovolemic shock. J Chin Med Assoc 2009;72:45–47.
  • Yee ML, Wong R, Datta M, Fazlo TN, Ebrahim MM, Mcnamara EC, et al. Mitochondrial disease: an uncommon but important cause of diabetes mellitus. Endocrinol Diabetes Metab Case Rep 2018;2018:18-0091.
  • Kwon OY, Lim SG, Park SH. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. Am J Emerg Med 2014;32:951.e1-2.

    • Views: 259
    HTML downloads: 41
    PDF downloads: 270

    Published: 2024-01-22
    Issue: 2024: Vol 11 No 2 (view)

    How to cite:
    1.
    Horná S, Péč MJ, Krivuš J, Michalová R, Sivák Štefan, Galajda P, Mokáň M. Gastrointestinal complications of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome managed by parenteral nutrition. EJCRIM 2024;11 doi:10.12890/2024_004268.

    Most read articles by the same author(s)