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
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
Primary Language | English |
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Journal Section | Research Articles |
Authors | |
Publication Date | July 1, 2017 |
Published in Issue | Year 2017 |