چهارشنبه 8 مهر 1405
دوره 14، شماره 3 - ( 6-1405 )
جلد 14 شماره 3 صفحات 286-275 |
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Abdollahi G, Vahidi M R, Mousavi R S, Gashmard R, Mehboodi F, Mousavi S T. A Case Report of Thiamine-responsive Megaloblastic Anemia Misdiagnosis in a Male Child With Diabetic Ketoacidosis and Glucose-6-phosphate Dehydrogenase Deficiency. J. Pediatr. Rev 2026; 14 (3) :275-286
URL: http://jpr.mazums.ac.ir/article-1-864-fa.html
URL: http://jpr.mazums.ac.ir/article-1-864-fa.html
A Case Report of Thiamine-responsive Megaloblastic Anemia Misdiagnosis in a Male Child With Diabetic Ketoacidosis and Glucose-6-phosphate Dehydrogenase Deficiency. Journal of Pediatrics Review. 1405; 14 (3) :275-286
چکیده: (19 مشاهده)
Background: Type 1 diabetes mellitus (T1DM) is one of the most common chronic diseases in childhood and may present acutely with diabetic ketoacidosis (DKA). Since both infection and DKA can trigger anemia in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency, failure to properly evaluate such anemia may lead to diagnostic confusion with other conditions such as thiamine-responsive megaloblastic anemia (TRMA). This study reported a case of TRMA misdiagnosis in a male child with DKA and G6PD deficiency.
Case Presentation: The case was a 5-year-old boy admitted to the emergency department of a hospital in Bushehr, south of Iran, with lethargy, polydipsia, polyuria, and Kussmaul breathing. Based on laboratory findings (pH=7.12, HCO₃⁻=2, blood glucose=738 mg/dL), he was diagnosed with DKA, and treatment with insulin and intravenous fluids was initiated. Due to the presence of fever, abnormal lung findings on examination, and chest X-ray results, antibiotic therapy was also started for presumed pneumonia. One week after discharge, during outpatient follow-up, macrocytic anemia was diagnosed (Hb=6.8, MCV=95). Given the type of anemia in a diabetic child, a diagnosis of TRMA was made, and treatment with thiamine (100 mg twice daily) was initiated, and insulin was discontinued. As this decision coincided with the honeymoon phase of T1DM, the child remained stable for a few weeks. However, after exiting the honeymoon phase, he was readmitted with another episode of DKA. Further clinical assessment and detailed history revealed that the diagnosis of TRMA was incorrect, and the anemia was actually due to hemolysis associated with G6PD deficiency (favism), triggered by the initial DKA episode.
Conclusions: This case report highlights the importance of considering a broad differential diagnosis for anemia in children with diabetes. The overlapping clinical features of G6PD deficiency and TRMA, particularly in the context of DKA and the honeymoon phase of diabetes, can lead to misdiagnosis and inappropriate management. Careful follow-up, comprehensive hematologic evaluation, and consideration of genetic backgrounds are essential for accurate diagnosis and effective treatment planning.
Case Presentation: The case was a 5-year-old boy admitted to the emergency department of a hospital in Bushehr, south of Iran, with lethargy, polydipsia, polyuria, and Kussmaul breathing. Based on laboratory findings (pH=7.12, HCO₃⁻=2, blood glucose=738 mg/dL), he was diagnosed with DKA, and treatment with insulin and intravenous fluids was initiated. Due to the presence of fever, abnormal lung findings on examination, and chest X-ray results, antibiotic therapy was also started for presumed pneumonia. One week after discharge, during outpatient follow-up, macrocytic anemia was diagnosed (Hb=6.8, MCV=95). Given the type of anemia in a diabetic child, a diagnosis of TRMA was made, and treatment with thiamine (100 mg twice daily) was initiated, and insulin was discontinued. As this decision coincided with the honeymoon phase of T1DM, the child remained stable for a few weeks. However, after exiting the honeymoon phase, he was readmitted with another episode of DKA. Further clinical assessment and detailed history revealed that the diagnosis of TRMA was incorrect, and the anemia was actually due to hemolysis associated with G6PD deficiency (favism), triggered by the initial DKA episode.
Conclusions: This case report highlights the importance of considering a broad differential diagnosis for anemia in children with diabetes. The overlapping clinical features of G6PD deficiency and TRMA, particularly in the context of DKA and the honeymoon phase of diabetes, can lead to misdiagnosis and inappropriate management. Careful follow-up, comprehensive hematologic evaluation, and consideration of genetic backgrounds are essential for accurate diagnosis and effective treatment planning.
نوع مطالعه: Case Report and Review of Literature |
دریافت: 1404/12/21 | پذیرش: 1405/2/22 | انتشار: 1405/6/28
دریافت: 1404/12/21 | پذیرش: 1405/2/22 | انتشار: 1405/6/28
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