B 12 deficiency with neurological manifestations in the absence of anaemia

BMC Research Notes

Widana Arachchilage Thilak Ananda Jayalath¹  Ekanayake Mudiyanselage Madhushanka Ekanayake¹  Kushalee Poornima Jayawickreme¹  Dissanayake Mudiyanselage Priyantha Udaya Kumara Ralapanawa¹ 

[1] Department of Medicine, University of Peradeniya, Peradeniya, Sri Lanka

关键词: Sri Lanka;    Hydroxycobalamine;    Sub-acute combined cord degeneration;    Polyneuropathy;    Macrocytosis;    Anaemia;    Vitamin B12 deficiency;   

Others  :  1230103
DOI  :  10.1186/s13104-015-1437-9

 received in 2015-03-16, accepted in 2015-09-11,  发布年份 2015

【 摘 要 】

Background

Vitamin B ₁₂deficiency is often diagnosed with hematological manifestations of megaloblastic macrocytic anemia, which is usually the initial presentation. Neurological symptoms are often considered to be late manifestations and usually occur after the onset of anemia. Sub acute combined cord degeneration, which is a rare cause of myelopathy is however the commonest neurological manifestation of vitamin B ₁₂deficiency.

Case presentation

We present a case of a 66 year old Sinhalese Sri Lankan female, who is a strict vegetarian, presenting with one month’s history suggestive of Sub-acute combined cord degeneration in the absence of haematological manifestations of anaemia. Her Serum B ₁₂levels were significantly low, after which she was treated with hydroxycobalamine supplementation, showing marked clinical improvement of symptoms, with normalization of serum B ₁₂levels. Hence, the diagnosis of vitamin B ₁₂deficiency was confirmed retrospectively.

Conclusion

Vitamin B ₁₂deficiency could rarely present with neurological manifestations in the absence of anaemia. Therefore a high index of suspicion is necessary for the early diagnosis and prompt treatment in order to reverse neurological manifestations, as the response to treatment is inversely proportionate to the severity and duration of the disease.

【 授权许可】

   
2015 Ralapanawa et al.

【 参考文献 】

• [1]Rabhi S, Maaroufi M, Khibri H, Belahsen F, Tizniti S, Berrady R, Bono W: Magnetic resonance imaging findings within the posterior and lateral columns of the spinal cord extended from the medulla oblongata to the thoracic spine in a woman with subacute combined degeneration without hematologic disorders: a case report and review of the literature. J Med Case Rep 2011, 5:166. BioMed Central Full Text
• [2]Bhuiyan A, Dash S, Shahriar S, Nahid F, Arefin S: A case of sub-acute combined degeneration of the spinal cord with associated pernicious anaemia. Pulse. 2014, 5(1):57-60.
• [3]Tan LTH, Ho KKF, Fong GCY, Ong KL: Subacute combined degeneration of the spinal cord. Hong Kong J Emerg Med. 2010, 17(1):79-81.
• [4]Lee GR: Pernicious anemia and other causes of vitamin B12 (cobalamin) deficiency. In Wintrobe’s clinical hematology. 10th edition. Edited by Lee GR, Foerster J, Lukens J, Paraskevas F, Greer JP, Rodgers GM. Lippincott Williams, Baltimore; 1999:941-964.
• [5]Lindenbaum J, Healton EB, Savage DG, Brust JC, Garrett TJ, Podell ER, Marcell PD, Stabler SP, Allen RH: Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. N Engl J Med 1988, 318:1720-1728.
• [6]Institute of MedicineFood and Nutrition Board: Dietary reference intakes: thiamin, riboflavin, niacin, vitamin B6, folate, vitamin B12, pantothenic acid, biotin, and choline. National Academy Press, Washington, DC; 1998.
• [7]Pawlak R, James PS, Raj S, Cullum-Dugan D, Lucus D: How prevalent is vitamin B12 deficiency among vegetarians? Nutr Rev 2013, 71:110-117.
• [8]Scalabrino G, Carpo M, Bamonti F, Pizzinelli S, D’Avino C, Bresolin N, Meucci G, Martinelli V, Comi GC, Peracchi M: High tumor necrosis factor-α levels in cerebrospinal fluid of cobalamin-deficient patients. Ann Neurol 2004, 56:886-890.
• [9]Timms SR, Curé JK, Kurent JE: Subacute combined degeneration of the spinal cord: MR findings. AJNR Am J Neuroradiol 1993, 14:1224-1227.
• [10]Eisenhofer G, Lambie DG, Johnson RH, et al.: Deficient catecholamine release as the basis of orthostatic hypotension in pernicious anaemia. J Neurol Neurosurg Psychiatry 1982, 45:1053-1055.
• [11]Van Asselt DZ, Blom HJ, Zuiderent R, Wevers RA, Jakobs C, van den Broek WJ: Clinical significance of low cobalamin levels in older hospital patients. Neth J Med 2000, 57:41-49.
• [12]Andrès E, Affenberger S, Zimmer J, Vinzio S, Grosu D, Pistol G, Maloisel F, Weitten T, Kaltenbach G, Blicklé JF: Current hematological findings in cobalamin deficiency. A study of 201 consecutive patients with documented cobalamin deficiency. Clin Lab Haem. 2006, 28:50-56.
• [13]Lindenbaum J, Savage DG, Stabler SP, et al.: Diagnosis of cobalamin deficiency: II. Relative sensitivities of serum cobalamin, methylmalonic acid and total homocysteine concentrations. Am J Hematol 1990, 34:99-107.
• [14]Hemmer B, Glocker FX, Schumacher M, et al.: Subacute combined degeneration: clinical electrophysiological and magnetic resonance imaging findings. J Neurol Neurosurg Psychiatry. 1998, 65:822-827.
• [15]Bassi SS, Bulundewee KK, Greef GP, Labuscagne JH, Gledhill RF: MRI of the spinal cord in myelopathy complicating vitamin B12 deficiency: two additional cases and a review of the literature. Neuroradiology 1999, 41(4):271-274.
• [16]Green R, Kinsella LJ: Current concepts in the diagnosis of cobalamin deficiency. Neurology. 1995, 45:1435-1440.
• [17]Carmel R: How I treat cobalamin (vitamin B12) deficiency. Blood 2008, 112:2214-2221.
• [18]Samuels MA, Feske S: Office practice of neurology. Churchill Livingstone, New York; 1996.