Akademik Veri Yönetim Sistemi
Çocuk Acil ve Yoğun Bakım Dergisi, cilt.6, sa.3, ss.134-139, 2019 (Hakemli Dergi)
Introduction: Cobalamin (Cbl) deficient infants are mostlyoutpatients. Medical literature is very limited concerning infants withsevere Cbl deficiency requiring intensive care. The aim of this studywas to describe infants requiring intensive care whose health issueswere primarily related to Cbl deficiency.Methods: This is a single-center retrospective observational studyperformed at the pediatric intensive care unit at a children’s hospital.Patients aged 6-24 months with low serum Cbl level coexisting withcytopenia (s) and/or macrocytosis, high levels of iron, ferritin andtransferin saturation and whose clinical symptoms necessitatingintensive care at diagnosis and resolving after Cbl therapy wereincluded. Infants with chronic diseases and birth asphyxia historywere excluded.Results: Seven infants were included in the study. The mean ageand Cbl level at presentation was 11±5 months and 50±27 pg/mL,respectively. The presenting complaints were diarrhea, vomiting,difficulty swallowing, seizure, respiratory distress and cyanosis afterfeeding. Three patients needed mechanical ventilation. Megaloblasticchanges were detected in five patients who underwent bonemarrow aspiration. Cerebral atrophy was found in six of the patientson cranial imaging. Only one patient developed neurological disabilityduring long-term follow-up.Conclusion: This retrospective study was performed to emphasizethe importance of Cbl deficiency in infants requiring intensive careor who had serious deterioration of organ functions. Cbl deficiencyin children may lead to life-threatening complications such asrespiratory failure or neurological disorders. Prompt diagnosis andimmediate treatment may not only be life saving but also improvesquality of life in long-term follow-up.