Articles, Issue 4/2022

Strokes and Stroke-like Conditions in Inborn Errors of Metabolism

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Ts. Veleva, D. Avdzhieva-Tzavella

СБАЛ по детски болести „Проф.Иван Митев“ ЕАД, Отделение по клинична генетика Катедра по педиатрия, Медицински университет – София

Abstract

Inborn errors of metabolism are monogenic diseases mostly inherited in autosomal recessive manner, associated with multiorgan damage. Most of them affect the brain. Some of these conditions increase the risk of stroke, that could be a classical ischemic stroke or more commonly a metabolic stroke. The metabolic stroke ussually begins with metabolic decompensation. The main features are stroke-like episodes with morphogical equivalent stroke-like lesions on MRT, without confirmation of ischemia in the typical vascular territories. Identifying the underlying metabolic cause of a metabolic stroke is essential for prompt and appropriate treatment, respectively for improving the prognosis. Clinical manifestatons of stroke-like episodes, stroke-like lesions visualized on MRT and history of underlying metabolic disorder play main role for the diagnosis of metabolic stroke.

Key words: stroke, stroke-like episodes, inborn errors of metabolism, mitochondrial diseases

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Bibliography

  1. Riela AR, Roach ES. Etiology of stroke in children.  Journal of Child Neurology. 1993;8(3):201–220
  2. Kirton A, deVeber G. Paediatric stroke: pressing issues and promising directions. Lancet Neurol. 2015; 14:92– 102
  3. Tabarki B, Hakami W, Alkhuraish N et al. Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management. Front. Neurol. 2021; 12:633119
  4. Horvatha R, Lochmullerb H, Acsadic G. Metabolic stroke in childhood: diagnostic approach and suggestions for therapy. J Pediatr Neurol. 2010; 8:321–32.
  5. Finsterer J., Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes, Journal of the Neurological Sciences 2019;400:135-141
  6. El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015; 116:4–12
  7. Pavlakis S, Phillips P, Di Mauro S, De Vuvo D, Rowland L. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984; 16 (4): 481-8
  8. Scaglia F, Kase M, Suzuki Y, et al. Ocular motor disorders in mitochondrial encephalopathy with lactic acid and stroke-like episodes with the 3271 (T-C) point mutation in mitochondrial DNA. J Neuroophthalomol 2007; 27:22-8
  9. Sproule DM, Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci 2008; 1142:133-58
  10. Hilton G, MELAS: a mitochondrial encephalomyopathy syndrome. J Child Neurol 1994; 9:4-13
  11. Литвиненко И, Илиева В; Случай на дете с митохондриална миопатия, енцефалопатия, лактатна ацидоза и инсултоподобни епизоди – синдром (MELAS). Педиатрия 2012; 2:31 – 33
  12. Khan NA, Govindaraj P, Meena AK, Thangaraj K. Mitochondrial disorders: Challenges in diagnosis & treatment. The Indian Journal of Medical Research. 2015; 141(1):13-26.
  13. Finsterer,J, Aliyev R. Metabolic stroke or stroke-like lesion: Peculiarities of a phenomenon, Journal of the Neurological Sciences. 2020; 412:116726
  14. Scholl-B S ü rgi, Haberlandt E, Gotwald T, et al., Stroke-Like Episodes in Propionic Acidemia Caused by Central Focal Metabolic Decompensation. Neuropediatrics 2009; 40: 76 – 81
  15. Almuqbil M, Chinsky JM, Srivastava S. Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy. Child Neurology Open 2019; 6: 1-9
  16. Testai F; Gorelick P, Inherited Metabolic Disorders and Stroke Part 1, Arch Neurol. 2010;67(1):19-24
  17. Albrecht J, Zielińska M, Norenberg MD. Glutamine as a mediator of ammonia neurotoxicity: A critical appraisal. Biochem Pharmacol. 2010;80:1303–8. 
  18. Braissant O, McLin VA, Cudalbu C. Ammonia toxicity to the brain.. J Inherit Metab Dis. 2013;36:595–612
  19. Kölker S, Garcia-Cazorla A, Valayannopoulos V, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015;38:1041–57
  20. Testai F, Gorelick P.  Inherited Metabolic Disorders and Stroke Part 2. Arch Neurol. 2010;67(2):148-153
  21. Castro R, Rivera I, Blom HJ et al., Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J Inherit Metab Dis. 2006;29:3-20
  22. Andrew A, Morris М, Kožichet V et al.. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency, 2017; 40(1):49-74

Address for correspondence:

Department of Clinical Genetics Children’s hospital “Prof .Dr. Ivan Mitev”

15, “Acad. Ivan Geshov”, Blvd.

1431, Sofia, Bulgaria

e-mail: tsveti_iv_87@abv.bg