DEFICIENCIA DE COBALAMINA C DE INICIO TEMPRANO: PRESENTACIÓN DE CASO CLÍNICO

Informamos un caso de deficiencia de cobalamina C en el que el inicio de los síntomas fue agudo, característica que no es frecuente en este tipo de enfermedades. La aparición de trombosis venosa cerebral en el contexto de hiperhomocisteinemia está ampliamente descrito, sin embargo, en este grupo no surge como una complicación frecuente. El abordaje de estas enfermedades debe incluir la sospecha de su existencia por medio de imágenes del sistema nervioso central y de análisis de laboratorio.
Autor
Verónica Bindi
Columnista Experta de SIIC
Institución del autor
Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan, Ciudad de Buenos Aires, Argentina
Coautores
Hernán Eiroa* Carlos Rugilo** Yeny Blanco***   
Médico, Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan, Ciudad de Buenos Aires, Argentina*
Médico Neurólogo, Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan, Ciudad de Buenos Aires, Argentina**
Médica, Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan, Ciudad de Buenos Aires, Argentina***

Palabras clave
deficiencia de cobalamina C, deficiencia de vitamina B12, hiperhomocisteinemia, trombosis venosa, tromboembolismo, acidemia metilmalónica, trombosis de senos venosos cerebrales

Clasificación en siicsalud
Artículos originales > Expertos de iberoamérica >
página  http://siicsalud.com/dato/casiic.php/159788

Especialidades
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Primera edición
23 de septiembre, 2019
Segunda edición, ampliada y corregida
12 de marzo, 2024

Bibliografía del caso clínico
1. Froese DS, Gravel RA. Genetic disorders of vitamin B12 metabolism: eight complementation groups ? eight genes. Expert Rev Mol Med 12:e37, Nov 2010.
2. Mudd SH, Levy HL, Abeles RH, Jennedy JP Jr. A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochem Biophys Res Commun 35(1):121-126, 1969.
3. Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, Frempong T, Schrager NL, Patel K, et al. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. Mol Genet Metab 110(3):241-247, 2013.
4. Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet 38(1):93-100, 2006.
5. Rosenblatt DS, Aspler AL, Shevell MI, Pletcher, Fenton WA, Seashore MR. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis 20(4):528-538, 1997.
6. Carrillo-Carrasco N, Chandler RJ, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. J Inherit Metab Dis 35(1):91-102, 2012.
7. Martinelli D, Deodato F, Dionisi-Vici C. Cobalamin C defect: natural history, pathophysiology, and treatment. J Inherit Metab Dis 34(1):127-135, 2011.
8. Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, et al. Clinical presentation and outcome in a series of 88 patients with the cblC defect. J Inherit Metab Dis 37(5):831-840, 2014.
9. Van Hove JL, Van Damme-Lombaerts R, Grunewald S, Peters H, Van Damme B, Fryns JP, etv al. Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. Am J Med Genet 111(2):195-201, 2002.
10. Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP. Hydroxocobalamin dose escalation improves metabolic control in cblC. J Inherit Metab Dis 32(6):728-731, 2009.
11. Matos IV, Castejón E, Meavilla S, O'Callaghan M, Garcia-Villoria J, López-Sala A, et al. Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency. Mol Genet Metab 109:360-365, 2013.
12. Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, et al. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency J Inherit Metab Dis 40(1):21-48, 2017.
13. Stam J. Thrombosis of the Cerebral Veins and Sinuses. N Engl J Med 352:1791-1798, 2005.
14. Saposnik G, Barinagarrementeria F, Brown RD, Bushnell CD, Cucchiara B, Cushman M, et al. Diagnosis and Management of Cerebral Venous Thrombosis: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association. Stroke 42(4):1158-1192, 2011.
15. Goswami JN, Murthy TVSP, Singh D, Raj V. Cerebral sinovenous thrombosis in a child with homocystinuria. Med J Armed Forces India 71(Suppl 1):S39-42, 2015.
16. Alehan F, Saygi S, Gedik S, Kayahan Ulu EM. Stroke in early childhood due to homocystinuria. Pediatr Neurol 43:294-296, 2010.
17. Ruhoy IS, Merritt JL, II, Amlie-Lefond C. Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke. Pediatr Neurol 50(1):108-111, 2014.
18. Deschiens MA, Conard J, Horellou MH, Ameri A, Preter M, Chedru F, et al. Coagulation studies, factor V Leiden, and anticardiolipin antibodies in 40 cases of cerebral venous thrombosis. Stroke 27(10):1724-1730, 1996.
19. Kölker S, Sauer SW, Hoffmann GF, Müller I, Morath MA, Okun JG. Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism. J Inherit Metab Dis 31(2):194-204, 2008.
20. Papatheodorou L, Weiss N. Vascular oxidant stress and inflammation in hyperhomocysteinemia. Antioxid Redox Signal 9(11):1941-1958, 2007.
21. Outinen PA, Sood SK, Pfeifer SI, Pamidi S, Podor TJ, Li J, et al. Homocysteine-induced endoplasmic reticulum stress and growth arrest leads to specific changes in gene expression in human vascular endothelial cells. Blood 94(3):959-967, 1999.
22. Geraghty MT, Perlman EJ, Martin LS, Hayflick SJ, Casella JF, Rosenblatt DS, et al. Cobalamin C defect associated with hemolytic-uremic syndrome. J Pediatr 120(6):934-937, 1992.
23. Biancheri R, Cerone R, Schiaffino MC, Caruso U, Veneselli E, Perrone MV, et al. Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiological findings in 14 cases. Neuropediatrics 32:14-22, 2001.
24. Longo D, Fariello G, Dionisi-Vici C, Cannatà V, Boenzi S, Genovese E, et al. MRI and 1H-MRS findings in early-onset cobalamin C/D defect. Neuropediatrics 36(6):366-372, 2005.
25. Ahrens-Nicklas RC, Whitaker AM, Kaplan P, Cuddapah S, Burfield J, Blair J, et al. Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience. Genet Med 19(8):926-935, 2017.
Artículos publicados por el autor (selección)
Bindi Veronica %u201CCitrullinemia type I with recurrent liver failure in a child%u201D Archivos Argentinos de Pediatria 115(115):e39-e42, 2016



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