Purpose: Osteoporosis is a skeletal disorder characterized by reduced bone mass that results in increased risk of fractures. Pediatric osteoporosis can be caused by monogenic diseases, chronic diseases, and/or their treatment. This study was performed to investigate the effect of pamidronate infusion on osteoporosis in children and adolescents. Methods: This study included 13 unrelated pediatric patients (10 males and 3 females) whose bone mineral density (BMD) z-score was <-2.0. Pamidronate was administered intravenously at a dosage of 1 mg/kg for 3 consecutive days every 4 months. Clinical and biochemical findings were reviewed retrospectively. The BMD values of the lumbar spine and femoral neck were assessed by dual energy x-ray absorptiometry at baseline and annually. Results: The underlying diseases were immobilization (62%), inflammatory bowel disease (23%), protein-losing enteropathy (8%), and idiopathic juvenile osteoporosis (8%). The mean age at the start of treatment was 12.7±4.3 years. Duration of treatment ranged from 12–50 months. The baseline height-standard deviation score (SDS) and weight-SDS were -2.01±2.08 and -2.60±1.62, respectively. The lumbar spine BMD z-scores improved significantly after 1 year of pamidronate treatment, but the femoral neck BMD z-scores did not. However, both z-scores had significantly increased by the end of treatment. Conclusion This study demonstrated that pamidronate treatment increased BMD in pediatric patients with osteoporosis with no significant adverse events. Further studies are required to better define the long-term efficacy and safety of pamidronate therapy in a large number of pediatric patients.

Purpose: Osteoporosis is a skeletal disorder characterized by reduced bone mass that results in increased risk of fractures. Pediatric osteoporosis can be caused by monogenic diseases, chronic diseases, and/or their treatment. This study was performed to investigate the effect of pamidronate infusion on osteoporosis in children and adolescents. Methods: This study included 13 unrelated pediatric patients (10 males and 3 females) whose bone mineral density (BMD) z-score was <-2.0. Pamidronate was administered intravenously at a dosage of 1 mg/kg for 3 consecutive days every 4 months. Clinical and biochemical findings were reviewed retrospectively. The BMD values of the lumbar spine and femoral neck were assessed by dual energy x-ray absorptiometry at baseline and annually. Results: The underlying diseases were immobilization (62%), inflammatory bowel disease (23%), protein-losing enteropathy (8%), and idiopathic juvenile osteoporosis (8%). The mean age at the start of treatment was 12.7±4.3 years. Duration of treatment ranged from 12–50 months. The baseline height-standard deviation score (SDS) and weight-SDS were -2.01±2.08 and -2.60±1.62, respectively. The lumbar spine BMD z-scores improved significantly after 1 year of pamidronate treatment, but the femoral neck BMD z-scores did not. However, both z-scores had significantly increased by the end of treatment. Conclusion This study demonstrated that pamidronate treatment increased BMD in pediatric patients with osteoporosis with no significant adverse events. Further studies are required to better define the long-term efficacy and safety of pamidronate therapy in a large number of pediatric patients.

Although renal angiomyolipoma (AML) is a benign tumor, treatment may be necessary occasionally because it can cause potentially life-threatening retroperitoneal hemorrhage. Transarterial embolization (TAE) is a safe and effective treatment option to prevent the hemorrhagic rupture of AMLs and relieve the symptoms caused by enlarged lesions or active bleeding. However, there is no clear consensus regarding the indications for prophylactic TAE in patients with sporadic renal AMLs. In urgent TAE for bleeding AMLs, there is a likelihood of incomplete embolization when the focus is on stabilizing the clinical symptoms. This pictorial essay discusses the patient selection and technical considerations to achieve optimal therapeutic effects as well as the follow-up findings after TAE.

Background: Patients with chronic liver disease (CLD) planned for liver transplantation (LT) often show severe thrombocytopenia, but there is a lack of evidence in deciding the threshold for prophylactic platelet transfusion.Case: A 47-year-old women with acute liver failure was referred for LT. Despite daily transfusion of platelets, platelet counts remained under 10,000/µl. During LT, 2 units of single donor platelets (SDP) were transfused. Although platelet counts remained extremely low (3,000–4,000/µl) no diffuse oozing was observed and the blood loss was 860 ml. Postoperatively, there was no sign of active bleeding or oozing, and the patient received only 1 unit SDP transfusion. Conclusions CLD patients may have severe thrombocytopenia. However, primary hemostasis may not be significantly hindered due to the existence of rebalanced hemostasis. Prophylactic platelet transfusion in these patients should not be decided based on platelet counts only, but also take other coagulation tests and clinical signs into consideration.

Primary hyperparathyroidism (PHPT) is a hypercalcemia disorder with inappropriately normal or increased serum parathyroid hormone (PTH) levels resulting from excessive secretion of PTH from one or more of the parathyroid glands. PHPT is uncommon in infants and children, with an estimated incidence of 2–5 cases per 100,000 persons. Patients with PHPT usually present with bone pain, urolithiasis, or nephrolithiasis, as well as nonspecific symptoms such as fatigue and weakness. Asymptomatic hypercalcemia may also be detected incidentally. Only a few cases of pediatric PHPT have been reported in Korea. We present three patients (a 9-year-old girl, a 14-year-old boy, and a 14-year-old girl) with PHPT who manifested variable clinical features of hypercalcemia. The first and second patients each had a parathyroid adenoma and presented with abdominal pain caused by pancreatitis and a ureter stone, respectively. The third patient had an ectopic mediastinal parathyroid adenoma and presented with gait disturbance and weakness of the lower extremities. All of the patients underwent surgical resection of parathyroid adenoma, and their serum calcium levels subsequently normalized without medication.

Purpose: Oral supplementation of vitamin D can be inefficient in patients with vitamin D deficiency caused by intestinal malabsorption. This study investigated the efficacy and safety of parenteral vitamin D supplementation in infants and children with vitamin D deficiency caused by intestinal malabsorption. Methods: This study included 11 patients with vitamin D deficiency who were unresponsive to oral vitamin D or were unable to try oral vitamin D therapy due to underlying conditions. All patients were treated with weekly intramuscular injection of cholecalciferol 50,000 IU. Radiological findings and biochemical parameters including serum calcium, phosphorus, alkaline phosphatase, 25-hydroxyvitamin D3 (25(OH)D3), and parathyroid hormone levels were reviewed retrospectively. Results: Underlying diseases included small bowel atresia (n=3), necrotizing enterocolitis (n=3), congenital megacolon (n=2), chronic intestinal pseudoobstruction (n=1), congenital mesenteric band (n=1), and Crohn disease (n=1). Three patients exhibited rickets on X-ray findings. The mean duration of treatment was 4.8±2.9 weeks. The alkaline phosphatase levels were decreased from 710±650 IU/L to 442±284 IU/L (P=0.143). The 25(OH)D3 level was increased from 6.0±3.4 ng/mL to 50.4±28.8 ng/mL (P=0.008) after 3 months. Two patients with rickets showed improved radiologic findings after parenteral treatment. Conclusion Parenteral vitamin D therapy was effective and safe in patients with vitamin D deficiency caused by intestinal malabsorption. Long-term follow-up is needed to establish the efficacy of parenteral vitamin D therapy in a large number of patients.

Gallbladder tuberculosis is an extremely rare disease that is rarely reported in the literature. Arriving at the correct diagnosis of gallbladder tuberculosis is difficult, and it is usually made by histopathologic examination after cholecystectomy. However, due to the low sensitivity of acid-fast stain and culture result, diagnosing gallbladder tuberculosis is still demanding even after tissue acquisition. To overcome this problem, tuberculosis-polymerase chain reaction (TB-PCR) is performed on the resected specimen, which has high sensitivity and specificity. A 70-year-old female who had previously undergone total gastrectomy for advanced gastric cancer was admitted with right upper quadrant pain. Abdominal ultrasonography and computed tomography revealed acute cholecystitis without gallstones or sludge. She underwent cholecystectomy and the histopathologic finding of the specimen showed chronic active cholecystitis without gallstones or sludge. Because she was suspected to have pulmonary tuberculosis, TB-PCR was also performed on the resected gallbladder. TB-PCR showed positive reaction for Mycobacterium tuberculosis and we could diagnose it as gallbladder tuberculosis. Herein, we present a case of gallbladder tuberculosis diagnosed by TB-PCR from resected gallbladder.
Aged ; Antitubercular Agents/therapeutic use ; Cholecystitis, Acute/*diagnosis/surgery/ultrasonography ; DNA, Bacterial/analysis ; Female ; Humans ; Mycobacterium tuberculosis/genetics/isolation & purification ; Polymerase Chain Reaction ; Tomography, X-Ray Computed ; Tuberculosis/*diagnosis/drug therapy/microbiology

PURPOSE: Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. MATERIALS AND METHODS: The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses. RESULTS: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. CONCLUSION Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.