FİGEN GÜNEY, HASAN HÜSEYİN KOZAK, EMİNE GENÇ, Demet KIREŞİ, Bahar KELEŞ, Hatice TOY

B12 vitamin eksikliği ile birlikte görülen amyotrofik lateral sklerozis (Olgu sunumu)

Amaç: B12 vitamin eksikliğinin eşlik ettiği ALS olgusunun sunulması amaçlanmıştır. Olgu Sunumu: Yirmi üç yaşında erkek hasta konuşma bozukluğu, yutma güçlüğü şikayetleriyle servisimize yatırıldı. Nörolojik muayenesinde nazone ve hipofonik konuşma, disfaji ile bilateral öğürme refleksinde azalma mevcuttu. Öyküde 9 aylıktan beri et yemediği öğrenildi. B12: 42 pg/ml (normal 145-914) olarak tespit edildi. Bulber ALS, myastenia gravis, inklüzyon body miyoziti, multipl skleroz, serebrovasküler olay gibi disfaji ve hipfoni yapabilecek diğer nedenleri dışlamak için yapılan tetkiklerde yalnızca kranial MRG’de sentrum semiovale düzeyinde periventriküler noktasal tarzda hiperintens görünüm mevcuttu. Hasta B12 tedavisi yapılarak kontrollere gelmek üzere taburcu edildi. 8 ay sonra konuşma bozukluğunda artma, kollarda güçsüzlük şikayetleriyle servisimize yeniden yatırıldı. Nörolojik muayenede daha önceki bulgulara ilave olarak dilde atrofi ve fasikülasyon, çene refleksinde artış görüldü. Her iki el interosseal, tenar, hipotenar kaslarda minimal atrofi, omuz kuşağı kaslarında atrofi ve fasikülasyon görüldü. Tekrar yapılan EMG’sinde her iki biseps, deltoid, abduktor pollisis brevis ve sol orbikularis oris kaslarında fasikülasyon ve kronik denervasyon bulguları görüldü. Bunun üzerine hastaya ALS tanısı konularak riluzol tedavisi başlandı. Sonuç: Bu hastada B12 eksikliği ile ALS’nin birlikte görülmesi tesadüfi bir durum olabilir, ancak ALS tanısı konan bu hastanın genç yaşta olması nedeniyle B12 eksikliğinin nörodejeneratif süreci hızlandırıcı bir faktör olduğu da düşünülebilir.

Amyotrophic lateral sclerosis associated with vitamin B12 deficiency (Case report)

Objective: A case of amyotrophic lateral sclerosis (ALS) associated with vitamin B12 deficiency is presented. Case Report: A 23 year old male patient was admitted to the neurology department with complaints of disordered speech and difficulty with swallowing. His neurological examination revealed a nasonated and hypophonic speech, dysphagia and bilaterally decreased gag reflex. It was reported that the patient refused to eat any kind of meat since his childhood. His serum level of vitamin B12 was 42 pg/ml (normal 145-914). Diagnosis of exclusion such as bulbar ALS, myasthenia gravis, inclusion body myositis and cerebrovascular accident, all of which might cause dysphagia and hypophonia, were excluded with proper diagnostic tests. His cranial MRI demonstrated periventricular punctuated hyperintensities in the centrum semiovale. The patient was discharged after vitamin B12 replacement with no apparent improvement of his clinical findings. He readmitted eight months later with increased speech disorder and weakness in the upper extremities. Neurological examination revealed additional findings of wasting and fasciculations in the tongue and increased jaw reflex. There was minimal atrophy in both hands with atrophy and fasciculations in the muscles of the shoulder girdle. Repeated EMG demonstrated fasciculations and chronic denervation bilaterally in biceps, deltoid, abductor pollicis brevis and left orbicularis oris muscles. The patient was diagnosed with ALS and started on riluzole. Conclusion: The association of ALS and vitamin B12 deficiency in this patient might be a chance occurrence, however, it might also have accelerated the neurodegenerative process occurred in ALS.

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1. Beal MF. Mitochondria, free radicals, and neurodegeneration. Curr Opin Neurobiol 1996; 6: 661-6.
2. Bracco L, Antuono P, Amaducci L. Study of epidemiological and etiological factors of amyotrophic lateral sclerosis in the province of Florence, Italy. Acta Neurol Scand 1979; 60: 112-24.
3. Vincenti M, Guidetti D, Pinotti M, Rovesti S, Merlin M, Vescovi L et al. Amyotrophic lateral sclerosis after long term exposure to drinking water high selenium content. Epidemiol 1996; 7: 529-32.
4. Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2001; 1: 293-99.
5. Zoccolella S, Beghi E, Palagano G, Fraddosio A, Samarelli V, Lamberti P et al. Signs and symptoms at symptoms at diagnosis of amyotrophic lateral sclerosis: a population-based study in southern Italy. Eur J Neurol 2006; 13: 789-92.
6. Watts CR, Vanryckeghem M. Laryngeal dysfunction in Amyotrophic Lateral Sclerosis: A review and case report. BMC Ear Nose Throat Disord 2001; 1:1.
7. Daube JR. Electrodiagnostic studies in amyotrophic lateral sclerosis and other motor neuron disorders. Muscle Nerve 2000; 23: 1488-502.
8. Herrero M, Sanchez-Guilarte J, Manzarbeitia F, Gonzalez L, Gallego R. Macrocytic anemia and dysphagia. Rev Clin Esp 1994; 194: 649-50.
9. Pop-Jordanova N. Psychological characteristics and biofeedbeak mitigation in preadolescents with eating disorders. Pediatr Int 2000; 42: 76-81.
10. Avci Z, Turul T, Aysun S, Unal I. Involuntary movements and magnetic resonance imaging findings in infantile cobalamine (vitamin B12) deficiency. Pediatrics 2003; 112: 3: 684-86.
11. Bir LS, Acar G, Kılınçer A. EMG findings of facial muscles in ALS. Clin Neurophysiol 2006; 117: 474-78.
12. Kaji R. Effect of ultra high-dose methylcobalamin on compound muscle action potentials in amyotrophic lateral sclerosis: double blind study. Muscle Nerve 1998;21:1775-8.