, Jung Eun Choi, Hae Soon Kim, Kyung Ha Ryu Diamond-Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome that manifests as anemia in early infancy. Blood transfusion is a critical factor for survival. However, blood transfusions can result in iron overload. Endocrinopathies, hepatic cirrhosis, and cardiomyopathy are the most common complications of iron overload. Here, we report the case of an 18-year-old boy with DBA with hyperglycemia, short stature, and absence of puberty. The patient showed endocrine dysfunction associated with iron overload caused by repeated transfusions. He was eventually diagnosed with acquired hypopituitarism and was placed on testosterone replacement therapy. Endocrine dysfunction is common in patient with DBA, with an early manifestation of symptoms, even in teenage years. Patients receiving corticosteroid treatment or those in remission may also exhibit endocrine dysfunction, although its prevalence is the highest among chronic transfusion patients. Ongoing monitoring and evaluation of growth and pubertal development are needed for better management of these disorders.
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, Han Wool Kim, Soyoung Lee, Kyung Ha Ryu, Hae Soon Kim, Eun Sun Yoo, Hee Jung Choi, Kyung-Hyo Kim Kikuchi-Fujimoto disease (KFD) is characterized by lymphadenopathy and fever, and is usually self-limited. This study analyzed the clinical characteristics of pediatric patients with KFD.
This retrospective, observational, single-center study was conducted in South Korea from March 2008 to October 2015. KFD was diagnosed based on clinical, radiological or histological findings and excluded when there were any other causes of lymphadenopathy. Medical records were reviewed for clinical and laboratory manifestations.
A total of 35 cases were included. The mean patient age was 12.1±2.9 years (range, 5 to 17 years); the male-to-female ratio was 1:0.8. The main clinical manifestations were cervical lymphadenopathy and fever in 34 cases (97%). The mean duration of fever was 12.2±8.3 days (range, 2 to 37 days). We noted enlargement of lymph nodes in the cervical, mesenteric (n=5, 14%), axillary (n=2, 6%), and inguinal (n=1, 3%) regions. Hepatosplenomegaly, loss of appetite, and rash were observed. On laboratory examinations, elevation of ferritin, leukopenia, and positivity for anti-nuclear antibodies were frequently observed. Twelve patients underwent biopsy and 23 cases were diagnosed by radiological findings. The mean duration of hospitalization for all cases was 7.9±2.9 days (range, 3 to 13 days) and steroids were administered in 10 cases. KFD recurrence was observed in 2 cases (5.7%) with the time to relapse of 7 months and 4 years. There were no cases with systemic lupus erythematous or other autoimmune disease.
KFD should be considered in pediatric patients with lymphadenopathy and prolonged fever. Patients with KFD should be monitored for recurrence and the development of autoimmune disease.
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