University Journal of Medicine and Medical Sciences

Transcription

1 ISSN Volume 2 Issue CLINICAL SYNDROME OF VITAMIN B12 DEFICIENCY AN ANALYSIS OF 10 CASES JAYAKUMAR M MADAVAN Department of Neurology, MADRAS MEDICAL COLLEGE AND GOVERNMENT GENERAL HOSPITAL Abstract : INTRODUCTION Vitamin B12 deficiency is an important treatable cause of neurologic illness in our country which usually presents as Non-compressive Myelopathy, Peripheral Neuropathy, and higher function alteration. We herewith analyse 10 Cases of Vitamin B12 deficiency for their clinical features and laboratory parameters. METHODS 10 patients who were diagnosed to have Vitamin B12 deficiency at the Institute of Neurology between 2011 and 2014 were analysed for their clinical features and laboratory parameters. RESULTS Age of patients ranged from years. Nine were males and one female. Identifiable risk factors were noted in five patients. Nine patients had spastic weakness of limbs with exaggerated reflexes and posterior column signs. Sensory symptoms and signs were noted in nine patients. One patient presented with higher function alteration only without any myelopathy or neuropathy. Bladder symptoms were noted in four and loss of libido and erectile dysfunction in two. Sensory ataxia was prominent in eight patients. Low serum B12 level was noted in all patients. Peripheral smear was normal in four patients, normocytic normochromic in three, and dimorphic in three. MRI spine showed hyperintensities in spinal cord in one patient. MRI brain in the patient with dementia showed T2 and Flair Hyperintensities in the periventricular region. CONCLUSIONS This study highlights the classical clinical features of Vitamin B12 deficiency and also documents the occurrence of unusual symptoms like loss of libido, erectile dysfunction and bladder symptoms. Keyword :Vitamin B12, Cobalamin, Paraparesis, ataxia, dementia Introduction : Vitamin B12 deficiency is an important treatable cause of neurologic illness in our country which usually presents as myelopathy, neuropathy and higher function alteration. We herewith analyse 10 cases of Vit-B12 deficiency for their clinical features and laboratory parameters.

2 Methods: 10 patients who were diagnosed to have Vitamin B12 deficiency at the Institute of Neurology between 2011 and 2014 were analysed for their clinical features and laboratory parameters. Results: Age and Sex Distribution

3 Discussion: Sources of Vitamin B12 are meat, fish, egg, milk, fortified cereals and legumes. Recommended Dailyallowance is 2.4 g/day.b12 deficiency can occur in pernicious anaemia as a result of malabsorption of intrinsic factor.cobalamin deficiency is common in elderly due to atrophic gastritis and achlorhydria induced food-cobalamin malabsorption 1,2. Cobalamin deficiency is frequently seen following gastric surgery andbariatric surgery. These procedures cause food-bound cobalamin malabsorption. Partial gastrectomyis associated with loss of intrinsic factor 3,4,5,6. Acid reduction therapy using H2 blockers andprolonged use of drugs like metformin can cause cobalamin deficiency. Other causes of cobalamin deficiency are due to malabsorption secondary to ileal disease or resection, bacterial overgrowthpancreatic disease, celiac disease, crohn s disease and tropical sprue. Helicobacter pylori infection ofthe stomach and parasitic infestation by fish tape worm, Diphyllobothrium latum can cause cobalamindeficiency. Certain hereditary enzyme defects can manifest with disorder of Vit B12 metabolism 7.These is increased prevalence of Vit B12 deficiency in HIV infected patients with neurologic 8,9symptoms.Nitrous oxide (N 2 O, laughing gas ) is a commonly used inhalational anaesthetic that is abused dueto its euphoriant properties, N 2 O irreversibly oxidizes the cobalt core of cobalamin and rendersmethyl cobalamin inactive. Post-operative neurologic dysfunction can be seen with N 2 O exposureduring routine anaesthesia if subclinical cobalamin deficiency is present 10,11. N 2 O toxicity due toinhalant abuse was reported among dentists, other medical personnel and university students 12,13,14. Other causes are strict vegetarians and chronic alcohol abuse. Some unknown factors alsocontribute to deficiency. Clinical manifestations of Vitamin B12 deficiency appear when the body stores get depleted over aperiod of 2 to 10 years 15.Neurologic manifestation are the earliest and often the only manifestation of cobalamin deficiency. 16,17,18,19,20,21,22.

4 Vitamin B12 deficiency presents usually as symmetrical paresthesia, numbness starting in the feetthan in the hands with accompanying sensory ataxia. Patients have weakness and stiffness in thelegs leading later on to ataxic paraparesis with variable spasticity and contractures. Other associated symptoms are impaired manual dexterity, memory loss and diminished visual acuity. Personality change, psychosis and rarely delirium are 18,20. the neuropsychiatric manifestations. Rarely, reported neurologic manifestations related to cobalamin deficiency include cerebellar ataxia, orthostatic tremor, ophthalmoplegia, vocal card paralysis, a syringomyelia like distribution of motor and sensory deficits and autonomic dysfunction in the form of impotence, incontinuence and orthostatic light headedness Examination of these patients reveals posterior and lateral column signs, loss of vibration and position sense more pronounced in the legs than in the arms. Visual impairment due to optic neuropathy may occasionally be the earliest or sole manifestation. Motor signs include weakness in the lower limbs, spasticity, increased, normal or reduced tendon reflexes especially ankle jerks and extensor plantar responses. The commonest clinical features noted in our patients were spastic paraparesis (9 patients), Posterior column signs (9), Sensory ataxia (8), Peripheral neuropathy in 3 patients. Autonomic symptoms in the form of bladder dysfunction (urgency, urge incontinence) was noted in 4 patients and loss of libido and erectile dysfunction was present in 2 patients. Only one patient presented with memory impairment, irritability and mild frontal lobe disturbances with wandering tendencies. Alcoholism was the commonest risk factor identified in our patients. Low serum B12 was found in all patients and the value ranged between 38 and 200 pg/l. MRI Spine was abnormal in only one patient. The patient with dementia had periventricular white matter hyperintensities. With treatment, Vitamin B12 deficiency symptoms may gradually improve in about 6 months. The degree of improvement depends on the severity and duration of deficiency. Permanent nerve damage may occur if the deficiency is not corrected promptly. Conclusion : This study stresses that Vitamin B12 deficiency can present not only with classical features, but also have unusual symptoms like loss of libido, erectile dysfunction and bladder symptoms. Reference: 1 Carmel R, Cobalamin, the stomach and aging. Am I Clin Nutr. 1997:66 (4): Hur witz A, Brady DA, Schaal SE, et al. Gastric acidity in older adults. JAMA 1997;278(8): Doscherholmen A, Swaim WR, Impaired assimilation of egg co 57 Vitamin B12 in patients with hypochlorhydria and achlorhydria and after gastric resection. Gastroenterology, 1973; 64(5): Schilling RF, Gohdes P.N., Hardie GH, Vitamin B12 deficiency after gastric bypass surgery for obesity. Ann Intern Med 1984; 101(4): Rhode BM, Tamin H, Gilfix BM, et al. Treatment of Vit B12 deficiency after gastric surgery for severe obesity. Obes Surg 1995;5(2): Sumner AE, Chin MM, Abrahm JL, et al. Elevated Methylmalonic acid and total homocysteine levels show higher prevalence of Vitamin B12

5 deficiency after gastric surgery Ann. Intern Med 1996; 124(5): Rosenblatt DS, Cooper BA, Inherited disorders of Vitamin B12 utilization. Bioassays 1990:12(7) Kieburtz KD, Giang DW,Schiffer RB, et al. Abnormal Vit. B12 metabolism in human immunodeficiency virus infection.association with neurological dysfunction. Arch Neurol 1991;48(3)312 9 Robertson KR, Stern RA, Hall CD, et al. Vit B12 deficiency and nervous system disease in HIV infection. Arch Neurol 1993;50(8): Schilling RF, Is nitrous oxide a dangerous anaesthetic for Vitamin B12 deficient subjects? JAMA 1986;255(12): Kinsella LJ, Green R, Anaesthesia Paresthetica : nitrous oxide induced cobalamin deficiency. Neurology1995;45 (8): Layzer RB. Myeloneuropathy after prolonged exposure to nitrous oxide. Lancet 1978; 2 (8102) : Sahenk Z, Mendell JR, Couri D, et al. Polyneuropathy from inhalation of N2O cartridges through a whipped creamdispenser. Neurology 1978;28(5): Ng J, Frith R. Nanging. Lancet 2002;360(9330): Green R. Kinsella LJ., Current Concepts in the diagnosis of cobalamin deficiency. Neurology 1995;45(8): Savage D, Lindenbaum J, Relapses after interruption of cyanocobalamin therapy in patients with perniciousanaemia. Am J Med 1983;74 (5) Magnus EM, Cobalamin and unsaturated transcobalamin values in pernicious anaemia. relation to treatment. Scand J. Haematol 1986;36 (5): Lindenbaum J, Healton EB, Savage DG, et al. Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anaemia or macrocytosis N. Eng J Med 1988;318 (26): Carmel R, Pernicious anaemia. The expected findings of very low serum cobalamin levels, anaemia andmacrocytosis are often lacking. Arch Intern Med. 1988; 148(8): Healton EB, Savage DG, Brust Jc, et al. Neurologic aspects of Cobalamin deficiency. Medicine (Baltimore) 1991;70(4): Savage D, Gangaidzo I, Lindenbaum J, et al. Vit-B12 deficiency is the primary cause of megaloblastic anaemia inzimbabwe. Br. J. Haematol 1994;86(4): Carmel R, Melnyk S, James SJ, Cobalamin deficiency with and without neurologic abnormalities: Differences in homocysteine and methionine metabolism. Blood 2003;101 (8); White WB, Reik L Jr, Cutlip PE. Pernicious anaemia seen initially as orthostatic hypotension. Arch Intern

6 Med.1981;141(11): Eisenhofer G, Lambie DG, Johnson RH, et al. Deficient cafecholamine release as the basisoforthostatic hypotensionin pernicious anaemia. J. Neurol and Neuro surg Psyhiatr 1982;45(11): ;11(5): Mccombe PA, McLeod JG. The peripheral neuropathy of Vit B12 deficiency J. Neurol Sci 1984;66(1): Kandler RH, Davies-Jones GA, Internuclear Ophthalmoplegoia in pernicious anaemia. BMJ 1988;297 (6663): Benito-Leon J, Porta-Etessam J. Shaky leg syndrome and Vit B12 deficiency. N.Eng. J. Med 2000; 342 (13): Morita S, Miwa H, Kihira T, et al. Cerebellar ataxia and leuko encephalopathy associated with cobalamin deficiency. J. Neurol. Sci 2003;216(1): Puri.V, Chaudhry N, Gulati P, Syringomyelia like manifestation of sub acute combined degeneration. J. Clin. Neurosci2004;11(6) Ahn TB, Cho JW, Jeon BS., Unusual neurological presentations of Vitamin B12 deficiency. Eur J. Neurol