DEGENERACIÓN COMBINADA SUBAGUDA, ANEMIA MEGALOBLÁSTICA Y MANIFESTACIONES NEUROPSIQUIÁTRICAS Caracterización clínica de catorce casos con deficiencia de cianocobalamina

  • Tomás Omar Zamora Bastidas Universidad del Cauca
  • Carlos Echavarría Betancourt Universidad del Cauca
  • Nancy Yannette Hurtado Ordóñez Universidad del Cauca
  • Edward Ruiz Salazar Universidad del Cauca
Palabras clave: Anemia, astenia, apalestesia, Romberg, degeneración combinada subaguda, vitamina B12, weakness, apalesthesia, subacute combined degeneration, Vitamin B12

Resumen

RESUMENLa degeneración combinada subaguda es un desorden neurológico que afecta los cordones posteriores de la médula y se manifiesta precozmente con disestesia, parestesias y astenia severa. En pacientes de riesgo, es la manifestación inicial (y a veces única) de una deficiencia de vitamina B12. El cerebro, el nervio óptico y los nervios periféricos pueden afectarse igualmente.Presentamos catorce casos de degeneración combinada subaguda por deficiencia de vitamina B12, con niveles bajos y anemia en la mayor parte de pacientes. Una revisión de la literatura muestra también estados carenciales en grupos poblacionales pobres de adultos mayores con otros factores de riesgo; y deficiencias subclínicas con depósitos hepáticos de vitamina B12 casi exhaustos.Puede haber clínica neuropsiquiátrica en casos sin niveles bajos de vitamina B12 ni anemia.Palabras clave: Anemia, astenia, apalestesia, Romberg, degeneración combinada subaguda, vitamina B12.SUBACUTE COMBINED DEGENERATION, MEGALOBLASTIC ANEMIA AND NEUROPSYCHIATRIC MANIFESTATIONSClinical picture of fourteen cases with deficiency of cianocobalaminABSTRACTSubacute combined degeneration is a neurologic condition that involves spinal cord posterior columns, presenting early with disesthesia, paresthesia and severe asthenia. In patients at risk, it is the first (and sometimes the only) manifestation of a vitamin B12 deficiency. Brain, optic and peripheral nerves maybe equally involved.We report fourteen cases of subacute combined degeneration and vitamin B12 deficiency as shown by low levels and megaloblastic anemia in most cases. A review of the literature was undertaken, remarking the importance of nutritional deficiencies seen in impoverished elderly people with additional risk factors; subclinical cases withliver storages almost exhausted. There could be a neuropsychiatric picture even without anemia o low vitamin B12 levels.Key words: Anemia, weakness, apalesthesia, Romberg, subacute combined degeneration, Vitamin B12.

Biografía del autor

Tomás Omar Zamora Bastidas, Universidad del Cauca
MD. Neurólogo-Internista. Profesor Titular.
Carlos Echavarría Betancourt, Universidad del Cauca
MD. Residente.
Nancy Yannette Hurtado Ordóñez, Universidad del Cauca
MD. Residente.
Edward Ruiz Salazar, Universidad del Cauca
MD. Residente. Departamento de Medicina Interna, Facultad de Ciencias de la Salud, Universidad del Cauca, Popayán. 

Citas

1. Villegas Navarro C, Restrepo Mesa A. Anemia perniciosa en Antioquia. Estudio clínico de 12 pacientes. Antioquia Méd 1967; 17: 81-108.
2. Lanska DJ. Historical aspects of the major neurological vitamin deficiency disorders: the water-soluble B vitamins. Handb Clin Neurol (Chapter 30). 2010; 95:445-76.
3. Federici L, Henoun Loukili N, Zimmer J, Affenberger S, Maloisel F, Andrès E. [Update of clinical findings in cobalamin deficiency: personal data and review of the literature]. Rev Med Interne. 2007; 28: 225-31.
4. Arai M, Osaka H. Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methyl-enetetrahydrofolate reductase deficiency. Epilepsia.2011; 52 (7):58-61.
5. Watkins D, Rosenblatt DS. Inborn errors of cobalamin absorption and metabolism. Am J Med Genet C Semin Med Genet. 2011; 157 (1):33-44.
6. Tripathi AK, Verma SP, Himanshu D. Acute psychosis: a presentation of cyanocobalamin deficiency megaloblastic anemia. Indian J Hematol Blood Transfus. 2010; 26:99-100.
7. Jauhar S, Blackett A, Srireddy P, McKenna PJ. Pernicious anaemia presenting as catatonia without signs of anaemia or macrocytosis. Br J Psychiatry. 2010; 197:244-5.
8. Kumar S. Vit. B12 deficiency presenting with an acute reversible extrapyramidal syndrome. Neurol India. 2004; 52:507–509.
9. Greenfield´s Neuropathology. Fourth edition. Vitamin B12 Deficiency 1976. 588-591.
10. Behrens MI, Diaz V, Vásquez C, Donoso A. Demencia por déficit de vitamina B12. Rev Méd Chile 2003; 131: 915-919.
11. Gómez Franco R, Ballesteros LB, Santacruz JG. Presentación de caso. Degeneración Combinada Subaguda. Universitas Med 2004; 45: 133-135.
12. Asok C Anthony. Tratado de Medicina Interna. Cecil 23 edición 2009: 1231-1241.
13. Contreras Zúñiga E, Ramírez J, Vallejo RA, Zúñiga LP. Anemia Perniciosa: descripción de un caso clínico. Rev Col Gastroenterol 2008; 23: 83-88.
14. Pétavy-Catala C, Fontès V, Gironet N, Hüttenberger B, Lorette G, Vaillant L. [Clinical manifestations of the mouth revealing Vitamin B12 deficiency before the onset of anemia]. Ann Dermatol Venereol. 2003;130:191-4.
15. Rosener M, Dichgans J. Severe combined degeneration of the spinal cord after nitrous oxide anaesthesia in a vegetarian. J Neurol Neurosurg Psychiatr 1996; 60: 354-357.
16. Epstein FH, Tohb E, Van Driel A et al. Mechanism of disease, pernicious anemia. N Engl J Med 1997; 337: 1941-1948.
17. Zarranz JJ. Enfermedades Neurológicas Carenciales: Neurología 1a ed. Madrid; 1998: 824-826.
18. Iwanami H, Tanaka M, Iwakawa H, Takiguti Y, Inukai T.[A case presenting with ataxic gait and dementia due to vitamin B12 deficiency without megaloblastic anemia or subacute combined degeneration of the spinal cord]. Brain Nerve. 2011; 63(3):267-9.
19. Romero C, Grammatico D, Cadena A y Col. Alcoholismo y Mielopatía Combinada por déficit de vitamina B12. J Neurol Neurosurg Psych. 2006; 77: 1092-1093.
20. Tracey J, Schifman F. Magnetic Resonance imaging in cobalamin deficiency. Lancet 1992; 339: 1172-1173.
21. Masoodi I, Kakar A, Byotra SP, Sachdev MK, Hussain S. Hemorrhagic manifestation of megaloblastic anemia: report of two cases and literature review. Blood Coagul Fibrinolysis. 2011; 22(3):234-235.
22. Healton EB, Savage DG, Brust JC, et al Neurology aspects of cobalamin deficiency. Medicine 1991; 70: 229-245.
23. Fraser TN. Cerebral manifestations of Addisonian pernicious anemia. Lancet. 1960; 2:258.
24. Regland B, Abrahamsson L, Blennow K, Gottfries CG, Wallin A. Vitamin B12 in CSF: reduced CSF/ serum B12 ratio in demented men. Acta Neurol Scand 1992; 85: 276-281.
25. Petchkrua W, Little JW, Burns SP, Stiens SA, James JJ. Vitamin B12 deficiency in spinal cord injury: a retrospective study. J Spinal Cord Med. 2003; 26:116-21.
26. Bhatnagar SK, Chandra J, Narayan S, Sharma S, Singh V, Dutta AK. Pancytopenia in children: etiological profile. J Trop Pediatr. 2005; 51:236-239.
27. Teplitsky V, Huminer D, Zoldan J, Pitlik S, Shohat M, Mittelman M. Adults. Med Assoc J. 2003; 5:868-872.
28. Ishtiaq O, Baqai HZ, Anwer F, Hussain N. Patterns of pancytopenia patients in a general medical ward and a proposed diagnostic approach. J Ayub Med Coll Abbottabad. 2004; 16:8-13.
29. Halfdanarson TR, Walker JA, Litzow MR, Hanson CA. Severe vitamin B12 deficiency resulting in pancytopenia, splenomegaly and leukoerythroblastosis. J Haematol. 2008; 80:448-451.
30. Green R, Kinsella L. Current concepts in the diagnosis of cobalamin deficiency. Neurology 1995; 45: 1435-1440.
31. Cornejo W, González F, Toro M.E, Cabrera D. Degeneración Combinada Subaguda. Descripción de un caso en un niño vegetariano estricto. Rev Neurol 2001; 33: 1154-1157.
32. Sim ek OP, Gönç N, Gümrük F, Cetin M. A child with vitamin B12 deficiency presenting with pancytopenia and hyperpigmentation. J Pediatr Hematol Oncol. 2004; 26:834-836.
33. Puntambekar P, Basha MM, Zak IT, Madhavan R. Rare sensory and autonomic disturbances associated with vitamin B12 deficiency. J Neurol Sci. 2009; 287: 285-287.
34. Puig A, Mino-Knudson M, Dighe AS. Case 13-2012. A 62-Year-Old Man With Paresthesias, Weight Loss, Jaundice, and Anemia. N Engl J Med 2012; 366: 1626-1633.
35. Reynolds E. Vitamin B12, folic acid, and the nervous system. Lancet Neurol 2006; 5:949-60.
36. Berlit P, Ringelstein A, Liebig T. Spinal MRI precedes clinical improvement in subacute combined degeneration with B12 deficiency. Neurology 2004; 63; 592.
37. Kumar N. Nutritional Neuropathies. Neurol Clin 2007; 25:209–255.
38. Kumar N, Gross J, Ahlskog E. Copper deficiencymyelopathy produces a clinical picture like subacute combined degeneration. Neurology 2004; 63; 33-39.
39. Bradley W. Neuropathies associated with systemic disorders. En: Neurology in Clinical Practice. Butterworth- Heinemann, USA. 5th Ed. 2008; 80:2308-2332.
40. Adams R, Victor M, Ropper A. Diseases of the nervous system due nutritional deficiency, in “Principles of Neurology” 1998: 327-345.
41. Vuceli V, Stanci V, Ledinsky M, Getaldi B, Sovi D, Dodig J, Grbac L, Gaina P, Rinci G, Carzavec D. Combined megaloblastic and immunohemolytic anemia associated, a case report. Acta Clin Croat. 2008; 47:239-43.
42. Burns RW, Burns TW. Pancytopenia due to vitamin B12 deficiency associated with Graves’ disease. Mod Med. 1996; 93:368-72.
43. Nogales-Gaete J et al. Mielopatía por déficit de vitamina B12: caracterización clínica de 11 casos. Rev Méd Chile. 2004; 132: 1377-1382.
44. Dogan M, Ozdemir O, Sal EA, Dogan SZ, Ozdemir P, Cesur Y, Caksen H.Psychotic disorder and extrapyramidal symptoms associated with vitamin B12 and folate deficiency. J Trop Pediatr. 2009; 55:205-207.
45. Al-Shubaili AF, Farah SA, Hussein JM, Trontelj JV, Khuraibet AJ. Axonal and demyelinating neuropathy with reversible proximal conduction block, an unusual feature of vitamin B12 deficiency. Muscle Nerve. 1998; 21:1341-3.
46. De Alvaro Prieto MA, Gil González I, del Río-Hortega Bereciartu J, Aparicio Blanco M. Convulsiones y encefalopatía como manifestaciones iniciales del déficit de cianocobalamina sin cambios hematológicos. An Med Interna 1990; 7:34-5.
47. Hemmer B, Glocker FX, Schumacher M, Deuschl G, Lucking CH. Subacute combined degeneration:
clinical, electrophysiological, and magnetic resonance imaging findings. J Neurol Neurosurg Psychiatry 1998; 65:822-827.
48. Mandell GL, Bennett JE, Dolin R, Tremont EC. Treponema pallidum (syphilis). In: eds. Principles and Practice of Infectious Diseases. 7th ed. Philadelphia, Pa: Churchill Livingstone Elsevier; 2009: chap 238.
49. Payinda G, Hansen T. Vitamin B (12) deficiency manifested as psychosis without anemia (Letters). Am J Psychiatry 2000; 157: 660-1.
50. Lindenbaum J, Healton EB, Savage DG et al. Neuropsychiatric disorders cause by cobalamin deficiency in the absence of anemia or macrocytosis. N Engl J Med 1988; 318: 1720-1728.
51. Durand C, Mary S, Brazo P, Dollfus S. [Psychiatric manifestations of vitamin B12 deficiency: a case report]. Encephale. 2003; 29:560-5.
52. Shorvon SD, Carney MW, Chanarin I, Reynolds E. The neuropsychiatry of megaloblastic anaemia. Br Med J 1980; 281: 1036-38.
53. Bermúdez Mendoza C, De la Espriella Perdomo M. Manifestaciones Neuropsiquiátricas del déficit de Vitamina B12. Rev Colomb Psiquiat 2008; 37: 129-135.
54. Capdevila AM, Gorjon L, Corredera E, Romero J, Moreno MJ, Escriche D. Degeneración Combinada Subaguda sin anemia. Rev Neurol. 2000; 30 (8): 797-799.
55. Marks P, Zukerberg L. Case 30-2.004: A 37-year-old Woman with paresthesias of the Arms and
Engl J Med 2004; 351: 1333-1341.
56. Diagnosis and Classification of Diabetes Mellitus. American Diabetes Association. Diabetes Care 2011; 34:S62-S69.
57. International Expert Committee. International Expert Committee report on the role of the A1C assay in the diagnosis of diabetes. Diabetes Care 2009; 32: 1327–1334
58. Ishiko T, Taguchi T, Takeguchi M, Saito H, Nanri K. Case of Wernicke’s encefalophalopathy and subacute combined degeneration of the spinal cord due to cardiac arrest due to beriberi heart disease. Brain Nerve 2009; 61: 1069-1073.
59. Krynyckyi BR, Zuckier LS. Accuracy of measurement of dual-isotope Schilling test urine samples: a multicenter study. J Nucl Med. 1995. 36: 1659–65.
60. Reinoso-Pérez FL, Rivas Pollmar I, Paz Arias R, Hernández Navarro F. Diagnóstico y Tratamiento de Anemias Megaloblásticas. Medicine 2008; 10: 1326-1333.
61. Aguirre C, Barreiro G, Cánovas A, Alonso J J, de la Prieta R. Estudio del déficit de cobalaminas en sujetos gastrectomizados y de edad avanzada. Rev Clin Esp. 2001; 201:75-80
62. Miramón López J, Ruiz Cantero A, Morales Jiménez J, Lara Fernández A, Hita Pérez J. Un Nuevo caso de asociación de mieloma múltiple y de anemia megaloblástica. An Med Intern. 1999; 16: 654-5.
63. Botero JC, Maya C. Deg0eneración subaguda combinada de cordón espinal posterior secundario a déficit de vitamina B12. Reporte de casos. Rev CES Med 2007; 21: 103-109.
64. Winston GP, Jaiser SR. Contribution of spinal MRI for unsuspected cobalamin deficiency in isolated subacute combined degeneration. Eur J Intern Med 2008; 19:142-145.
65. Senol MG, Sonmez G, Ozdag F, Saracoglu M. Reversible myelopathy with vitamin B12 deficiency. Singap Med J 2008; 49:330-332.
66. Katsuura Y, Takado Y, Koide T, Ishiguro H. Subacute combined degeneration with normal serum vitamin B12 level. Nihon Naika Gakkai Zasshi. 2006;
10:2084-2086.
Publicado
2012-04-11
Sección
Artículos de investigación