B12 Vitamini Eksikliği Olan Bir Sütçoocuğu

Öz

İki aylık erkek bebek şuur kaybı nedeniyle acil polikliniği- mize getirildi. Fizik muayenesinde şuuru açık ve soluk olan bebeğin göz kontağının az olduğu saptandı. Sistem bulgu- larında hipotoni dışında özellik olmayan bebeğin laboratu- var tetkiklerinde WBC: 7130/mm3, RBC: 3.17 10e6/µL, hgb: 10.6 g/dL, hct: 29.9, MCV: 94.3, MCH: 33.4, PLT: 480.103/ml, kan şekeri: 108 mg/dl, Ca: 10,2 mg/dl, Mg: 2,1 mg/dl Na: 136 mEq/l, K: 3,7 mEq/l, amonyak: 55.8 µgr/dl ve tandem mass testi normal saptandı. Yatışının ilk günün- de tüm vücüdunda kasılma olan hastanın çekilen kranial USG ve EEG normal bulundu. Kardiyolojik açıdan değer- lendirilen hastanın ekokardiografisinde VSD ve PFO sap- tanırken, holter EKG özellik saptanmadı. B12 düzeyi 219.9 pg/dl, homosistein: 9.2 µmol/ml N: 3.3-8.3 saptanan has- tann annesinin B12 düzeyi de 186 pg/dl bulunması üzerine 100 mcg/kg/gün B12 IM başlandı. Tedavi başlandıktan sora atakları kaybolan bebek, tedavisi düzenlerek yatışının 7. gününde taburcu edildi. Bir hafta sonra yapılan kontro- lünde nöbet geçirmediği, 1 ay sonraki kontrolünde ise hipotonisitesinin azaldığı saptandı

Anahtar Kelimeler

• Anemi,B12 vitamini,konvülziyon

The Infant with Vitamin B12 Deficiency

Öz

A 2-month-old male infant was admitted to the emergency clinic with complaints of loss of consciousness. The con- scious and hypotonic baby had no good eye contact. In the laboratory tests of the infants who had no symptoms other than hypotonia on physical examination, WBC: 7130/mm3, RBC: 3.17 10e6/µL, hgb: 10.6 g/dL, hct: 29.9, MCV: 94.3, MCH: 33.4, PLT: 480.103/ml, blood sugar: 108 mg/dl, Ca: 10,2 mg/dl, Mg: 2,1 mg/dl Na: 136 mEq/l, K: 3,7 mEq/l, AST: 28 IU, ALT: 32 IU, ammonia: 55.8 μg/dL were mea- sured and tandem mass was normal. On the first day of the hospitalization, tonic contraction was observed for a few seconds. The patient’s cranial USG and EEG were normal. While VSD and PFO were detected in the echocardiography of the patient, any abnormality was found in the holter ECG. Vitamin B12 level was 219.9 pg/dl, and homocysteine was 9.2 μmol/ml. Her mother’s B12 level was measured at 186 pg/dl and the patient started vitamin B12 IM at 100 mcg/kg/ day. The baby, whose attacks had disappeared since the treatment was started, was discharged on the 7th day of hospitalization. It was found that the baby did not have a seizure in the follow-up performed one week after discharge and the hypotonicity decreased in the control after 1 month

Anahtar Kelimeler

• Anemia,vitamin B12,convulsion

Kaynakça

1. 1. Demir N, Koc A, Üstyol L, Peker E, Abuhandan M. Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment. J Paed Child Health 2013;49: 820-4. https://doi.org/10.1111/jpc.12292
2. 2. Dorenke GC, Hunneman DH, Eber S, Hanefeld F. Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature. Eur J Pediatr 2004;163:196-201. https://doi.org/10.1007/s00431-004-1402-
3. 3. McPhee AJ, Davidson GP, Leahay M, Beare T. Vitamin B12 deficiency in a breast fed infant. Arch Dis Child 1988;63:921-3.
4. 4. Rosenblatt DS, Whiteheat VM. Cobalamin and folate deficiency: acquired and hereditary disorders in children. Semin. Hematol 1999;36:19-34.
5. 5. Koc A, Kocyigit A, Soran M, et al. High frequency of maternal vitamin B12 deficiency as an important cause of infantile vitamin B12 deficiency in Sanliurfa province of Turkey. Eur J Nutr 2006;45:291-7.
6. 6. Carman KB, Belgemen T, Yis U. Involuntary movements misdiagnosed as seizure during vitamin B12 Treatment. Ped Emerg Care 2013;29:1223-4. https://doi.org/10.1097/PEC.0b013e3182aa475e
7. 7. Incecik F, Herguner MO, Altunbasak S, Leblebisatan G. Neurological findings of nutritional vitamin B12 deficiency in children. Turk J Pediatr 2010;52:17-21.
8. 8. Taskesen M, Yaramış A, Katar S, Pirinççioglu A, Söker M. Neurological presentations of nutritional vitamin B12 deficiency in 42 breastfed infants in Southeast Turkey. Turk J Med Sci 2011;4:1091-6.

9. 9. Lundgren J, Blennow G. Vitamin B12 deficiency may cause benign familial infantile convulsions: a case report. Acta Paediatr 1999;88:1158-60. https://doi.org/10.1111/j.1651-2227.1999.tb01006.x
10. 10. Korenke GC, Hunneman DH, Eber S, Hanefeld F. Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature. Eur J Pediatr 2004;163:196-201. https://doi.org/10.1007/s00431-004-1402-4
11. 11. Yilmaz S, Serdaroglu G, Tekgul H, Gokben S. Different neurologic aspects of nutritional B12 deficiency in infancy. J Child Neurology 2015;1-4.
12. 12. Stanley SL. Treatment of vitamin B12 and folate deficiencies. Uptodate 2017 July.
13. 13. Von Schenck U, Bender-Gotze C, Koletzko B. Persistence of neurological damage induced by dietary vitamin B12 deficiency in infancy. Arch Dis Child 1997;77:137-9. https://doi.org/10.1136/adc.77.2.137
14. 14. Ozer EA, Turker M, Bakiler AR, et al. Involuntary movements in infantile cobalamin deficiency appearing after treatment.Pediatr Neurol.2001;25:81Y83.
15. 15. de Benoist B. Conclusions of a WHO Technical Consultation on folate and vitamin B12 deficiencies. Food Nutr Bull 2008:29(2suppl):S238-S244. https://doi.org/10.1177/15648265080292S129