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ISSN 1561-3119 (Electronic)

2021, Number 1

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Rev Cubana Pediatr 2021; 93 (1)

The cerebellum and its conditions in children

Vargas DJ

Language: Spanish
References: 54
Page: 1-14
PDF size: 485.51 Kb.


ABSTRACT

Introduction: When we think about studying the cerebellum, the first thing that comes to mind may be the following questions: Which are its diseases? How they are clinically expressed? , and perhaps: What is its structure and what functions do this organ has?
Objective: Examine the main anatomical and functional characteristics of the cerebellum and relate them to its clinical expression when it becomes ill, as well as comment on its range of etiologies in the child.
Methods: Search sources were computerized databases like: PubMed, Ebsco, and SciELO. Keywords used were: cerebellum, ataxia, metabolism congenital errors and ataxias, episodic ataxias, progressive diseases of the nervous system and ataxias; in Spanish and English.
Results: The cerebellum receives information and sends it to various brain structures through which it modulates the excitability of these structures and their downstream systems. This organ organizes, directs, and coordinates multiple functions that translate into strength, time and sequence. An ill cerebellum prevents the person from performing their functions and movements in a uniform and coordinated way; it can be affected by a wide range of etiological, genetic or acquired possibilities and make all or part of it ill.
Final considerations: The cerebellum performs important functions within the nervous system; it has a very typical expressiveness when it is ill. Proper use of new imaging and genetic study techniques, among others, allows the clinical pediatricians to be better able to diagnose its conditions and timely treatment.


REFERENCES

  1. Delgado-García JM. Structure and function of the cerebellum. Rev Neurol. 2001;33(7):635-42.

  2. Orhan A. Cerebellum. Neuroanatomical basis of clinical neurology. Section II.6. Carnforth: The Parthenon Publishing Group; 2001.

  3. Rahimi-Balaei M, Afsharinezhad P, Bailey K, Buchok M, Yeganeh B, Marzban H. Cerebellum Ataxias. Carnforth: The Parthenon Publishing Group; 2015.

  4. Campistol J. New discoveries regarding the physiopathology of the cerebellum. Rev Neurol. 2002;35(3):231-5.

  5. Campbell WW. Gait and Station. In: DeJong's, editor. The Neurologic Examination, 6th ed. Lippincott: Williams & Wilkins; 2005. p.526-33.

  6. Ashizawa T, Xia G. Ataxia. Contin Minneap Minn. 2016;22:1208-26.

  7. Akbar U, Ashizawa T. Ataxia. Neurol. Clin. 2015;33:225-248.

  8. Arriada-Mendicoa N, Otero-Siliceo E, Corona-Vázquez T. Current concepts regarding the cerebellum and cognition. Rev Neurol. 1999;29(11):1075-82.

  9. Hernáez-Goñi P, Tirapu-Ustárroz J, Iglesias-Fernández L, Luna-Lario P. The role of the cerebellum in the regulation of affection, emotion and behaviour. Rev Neurol. 2010;51(10):597-609.

  10. Tirapu-Ustarroz J, Luna-Lario P, Iglesias-Fernandez MD, Hernaez-Goni P. Cerebellar contribution to cognitive process: current advances. Rev Neurol. 2011;53(5):301-15.

  11. Bugalho P, Correa B, Viana-Baptista M. Role of the cerebellum in cognitive and behavioural control: scientific basis and investigation models Acta Med Port. 2006;19(3):257-67.

  12. Barrios M, Guàrdia J. Relation of the cerebellum with cognitive function: neuroanatomical, clinical and neuroimaging evidence. Rev Neurol. 2001;33(6):582-91.

  13. Ferri L. Cerebellum and language: speech therapy intervention to treat their disorders. Rev Neurol. 2015;60 (Suppl 1):S57-62.

  14. Sans A, Boix C, Colomé R, Campistol J. The contribution of the cerebellum to cognitive function in childhood. Rev Neurol. 2002;35(3):235-7.

  15. Poretti A, Wolf NI, Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr. Neurol. 2008;12:155-167.

  16. Guterman EL, Yurgionas B, Nelson AB. Episodic ataxia type 2: Case report and review of the literature. Neurology. 2016;86(23):e239-41.

  17. Muro García I. Toribio-Díaz ME. Quintas S. Episodic ataxia: A 20-years diagnostic delay. Neurologia. 2020;35(7):500-501.

  18. Hasan SM, D'Adamo MC. Episodic Ataxia Type 1. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. Gene Reviews(r): University of Washington; 2010.

  19. Joubert B, Gobert F, Thomas L, Saint-Martin M, Desestret V. Autoimmune episodic ataxia in patients with anti-CASPR2 antibody-associated encephalitis. Neurol Neuroimmunol Neuroinflamm. 2017;4(4):e371.

  20. Sesh S, Radhakrishnan A. Episodic ataxia in a child with senataxin mutation. Neurol India. 2018;66(3):842-844.

  21. Choi KD, Kim JS, Kim HJ, Jung I, Jeong SH. Genetic Variants Associated with Episodic Ataxia in Korea. Sci Rep. 2017;7(1):13855.

  22. Corbett MA, Bellows ST, Li M, Carroll R, Micallef S. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Neurology. 2016;87(19):1975-84.

  23. López Chiriboga AS, Pittock S. Episodic ataxia in CASPR2 autoimmunity. Neurol Neuroimmunol Neuroinflamm. 2018;6(2):e536.

  24. Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M. Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. Sci Rep. 2017;7(1):2514.

  25. Ficicioglu C, An Haack K. Failure to thrive: When to suspect inborn errors of metabolism. Pediatrics. 2009;124:972-9.

  26. Silver G, Mercimek-Andrews S. Inhered metabolic disorders Presenting wit ataxia. Int J Mol Sci. 2020;21(15):5519.

  27. Ferreira CR, Hoffmann GF, Blau N. Clinical and biochemical footprints o inherited metabolic diseases. I. Movement disorders. Mol Genet Metabol. 2019;127:28-30.

  28. Pode-Shakked N, Korman SH, Pode-Shakked B, Landau Y, Kneller K. Clues and challenges in the diagnosis of intermittent maple syrup urine disease. Eur J Med Genet. 2020;103901.

  29. Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK. Maple syrup urine disease: Mechanisms and management. Appl Clin Genet. 2017;10:57-66.

  30. Strauss KA, Puffenberger EG, Morton DH. Maple Syrup Urine Disease. In: Ada MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. Gene Reviews(r): University of Washington; 1993.

  31. Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. Gene Reviews(r): University of Washington; 1993.

  32. Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: The controversial issue of galactosaemia. Eur J Pediatr. 2003;162:S50-S53.

  33. Wang D, Pascual JM, De Vivo D. Glucose Transporter Type 1 Deficiency Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. Gene Reviews(r): University of Washington; 1993.

  34. Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC. The spectrum of movement disorders in Glut-1 deficiency. Mov Disord Off J Mov Disord Soc. 2010;25:275-281.

  35. Mercimek-Mahmutoglu S., Salomons G.S. Creatine Deficiency Syndromes. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. Gene Reviews(r): University of Washington; 1993.

  36. Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D. Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. Eur J Paediatr. Neurol. 2018;22:369-79.

  37. Schuelke M. Ataxia with Vitamin E Deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. Gene Reviews(r): University of Washington; 2005.

  38. Burnett JR, Hooper AJ, Hegele RA. Abetalipoproteinemia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. Gene Reviews(r): University of Washington; 2005.

  39. Van de Kamp J, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013;50:463-72.

  40. Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA. Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metabol. 2009;96:38-43.

  41. Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis. 2015;38:145-56.

  42. Salviati L, Trevisson E, Doimo M, Navas P. Primary Coenzyme Q10 Deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. Gene Reviews: University of Washington; 1993.

  43. Hayek W., Dumin Y., Tal G., Zehavi Y., Sakran W. Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism. Isr Med Assoc J. 2019;21:219-21.

  44. Cowan TM, Blitzer MG, Wolf B. Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med Off J Am Coll Med Genet. 2010;12:464-70.

  45. Wolf B. Biotinidase Deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. Gene Reviews(r): University of Washington; 1993.

  46. O'Callaghan B, Bosch AM, Houlden H. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. J Inherit Metab Dis. 2019;42:598-607.

  47. Nimmo GAM, Ejaz R, Cordeiro D, Kannu P, Mercimek-Andrews S. Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. Am J Med Genet. 2018;176:399-403.

  48. Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018;378:1898-1907.

  49. Raymond G., Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. Gene Reviews(r): University of Washington; 1993.

  50. Mallack EJ, Turk B, Yan H, Eichler FS. The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy. Curr Treat Options Neurol. 2019;21:61.

  51. Wanders RJ, Waterham HR, Leroy BP. Refsum Disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. Gene Reviews(r): University of Washington; 2005.

  52. Blaser SI, Steinlin M, Al-Maawali A, Yoon G. The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach Neuroimaging Clin N Am. 2016;26:373-416.

  53. Cordeiro D, Bullivant G, Siriwardena K, Evans A, Kobayashi J. Genetic landscape of pediatric movement disorders and management implications. Neurol Genet. 2018;4:e265.

  54. Neville S, O'Sullivan S, Sweeney B, Lynch B, Hanrahan D. Friedreich Ataxia in Classical Galactosaemia. JIMD Rep. 2016;26:1-5.




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