Abnormalities in C-type lectin-like receptor 2 in a patient with Gorham-Stout disease: the first case report.

Background: Gorham-Stout disease (GSD) is a form of lymphangiomatosis of unknown etiology, characterized by abnormal distribution of lymphatic vessels. Platelets and lymphangiogenesis are closely related via C-type lectin-like receptor 2 (CLEC-2)/podoplanin. Key Clinical Question: Despite similarities between abnormal lymphatic vessels in CLEC-2-deficient mice and patients with GSD, whether CLEC-2 on platelets is involved in GSD pathogenesis is unknown. Clinical Approach: We examined CLEC-2 expression in platelets of a patient with lethal GSD. Most of the patient's platelets expressed aberrant CLEC-2 that was not detectable by certain monoclonal antibodies for human CLEC-2. Further, this population was not activated by a CLEC-2-activating snake venom, rhodocytin. Possible causes of abnormal CLEC-2 including anti-CLEC-2 autoantibodies, podoplanin binding to CLEC-2, and pathogenic CLEC1B gene alteration were excluded. Conclusions: We believe that this is the first report of a patient with structurally and functionally abnormal CLEC-2. CLEC-2 abnormality may be associated with dysregulated lymphangiogenesis in GSD.

Epidural Hematoma related to lower limb pain and massive liver bleeding in Gorham-Stout disease: A case report.

RATIONALE: Gorham-Stout disease (GSD) is a rare disease that causes massive osteolysis and proliferation of abnormal lymphangiomatous tissues. Patients with GSD often experience pain associated with bone fractures and chylothorax. However, bleeding caused by abnormal lymphangiomatous tissue or hematological dysfunction rarely occurs. PATIENT CONCERNS: A 22-year-old female patient with GSD presented with severe left hip and lower limb pain. The GSD had disappeared her right pelvic bone and femur, but no abnormalities were found in the bones at the site of the pain. DIAGNOSES: The patient presented with a chylothorax and cerebrospinal fluid leakage. She was treated with sirolimus and an epidural blood patch, and her symptoms resolved. Computed tomography and magnetic resonance imaging revealed an epidural hematoma extending from L3 to the caudal region, and blood results revealed a consumption coagulopathy. INTERVENTIONS: We presumed that the hematoma caused pain and prescribed pregabalin and morphine. The pain gradually subsided. OUTCOMES: An unexpected liver subcapsular hemorrhage occurred 4 months later, and the patient went into hemorrhagic shock. Transcatheter arterial embolization was promptly performed, and the patient recovered. LESSONS: GSD infrequently causes bleeding related to abnormal lymphangiomatous tissues and coagulopathy, yet it can lead to serious events if it occurs.

Successful treatment of intractable gastrointestinal tract graft-vs-host disease with oral beclomethasone dipropionate in pediatric and young adult patients: Case reports.

RATIONALE: The gastrointestinal (GI) tract is a common target organ of graft-vs-host disease (GVHD) in hematopoietic stem cell transplantation (HSCT) patients, and GI tract GVHD is often resistant to standard treatments such as corticosteroids. Moreover, longterm use of systemic corticosteroids sometimes induces adverse events such as infection. Beclomethasone dipropionate (BDP) is a potent, topically active corticosteroid, which is metabolized to an active derivative in the intestinal mucosa. Oral BDP therapy is reportedly effective against GI tract GVHD in adult HSCT patients, but its efficacy and safety in pediatric patients remain undefined. Here, we report three pediatric and young adult cases who were treated with oral BDP. PATIENT CONCERNS: Three (6-, 7-, and 18-year-old) patients developed stage 2 to 4 lower GI tract GVHD, which was resistant to standard immunosuppressive therapies. DIAGNOSIS: Lower GI tract GVHD in these patients was histopathologically proven by endoscopic biopsy. INTERVENTIONS: Oral administration of enteric-coated capsules of BDP (3-8 mg/day) was started for the treatment of lower GI tract GVHD. OUTCOMES: With the introduction of oral BDP therapy, their GI tract symptoms promptly resolved (abdominal pain, within 3-7 days; diarrhea, within 2-3 weeks). Subsequently, systemic immunosuppressive agents such as corticosteroids and mycophenolate mofetil were successfully tapered off. During oral BDP therapy, although cytomegalovirus antigenemia and Acinetobacter Iwoffii sepsis developed in 2 cases, both were curable with conventional treatments. In a young adult case, concomitant BK virus-associated hemorrhagic cystitis resolved after oral BDP was introduced and systemic immunosuppressive agents were reduced. Transient growth restriction was observed in a pediatric case who was treated with oral BDP for approximately 300days. LESSONS: Our experiences suggest that oral BDP therapy is an effective approach for GI tract GVHD that is resistant to standard immunosuppressive therapies. Of clinical importance, our case suggests the possibility that oral BDP therapy may improve the immunosuppressive condition in GI tract GVHD patients by contributing to the reduction of systemic immunosuppressive medications as a result of prompt improvement of GI tract GVHD symptoms.

Mediastinal mature teratoma with chest pain onset and subsequent perforation: A case report.

INTRODUCTION: Mediastinal mature teratomas are often benign, asymptomatic, and incidentally detected during routine chest roentgenography. Enzymes secreted by intestinal or pancreatic tissue in teratomas may lead to mediastinitis or the rupture of adjacent tissues. Herein, we present a case of a patient who experienced sudden onset of chest pain followed by the perforation of a mediastinal teratoma. PRESENTATION OF CASE: A 10-year-old boy presented with chest pain 2 days before admittance to the hospital. Chest radiography showed an anomalous mass shadow, and computed tomography showed an anterior mediastinal mass. Radiography revealed an increase in the mass shadow size and dullness of the left costal phrenic angle. Magnetic resonance imaging revealed pleural effusion and intratumoral haemorrhage, indicating perforation of the tumour. Emergency excision and thymectomy via sternotomy were performed. Pathology confirmed that the mediastinal tumour presented no immature or malignant elements. DISCUSSION: In the present case, the onset of chest pain occurred 2 days before admission, and the initial computed tomography did not reveal tumour perforation. Subsequent chest radiography and magnetic resonance imaging indicated that the tumour had perforated. Surgical tumour excision was planned at the time of admission; however, once perforation was confirmed, emergency surgery was performed. The pleural effusion had high cancer antigen 19-9 levels, and this was expected as the pleural effusion contained pancreatic digestive enzymes. CONCLUSION: The perforation of a mediastinal mature teratoma cannot be predicted based on the symptoms, tumour size, or onset of pain alone. Once perforation is confirmed, surgical excision should be performed immediately.

[Thoracoscopic diaphragmatic plication for eventration of diaphragm in children using no-knife automatic suturing device].

UNLABELLED: Diaphragm eventration could inhibit the lung development due to compression. Thus diaphragm plication is required for the diaphragm eventration to prevent lung compression causing lung immaturity. However, we sometimes encounter the difficulty in endoscopic plication for fragile diaphragm without damaging it in narrow thoracic space in children. We demonstrate the plication using no-knife automatic suturing device. METHOD: Two linear ridges are made using stapler on the flaccid diaphragm without cutting the tissue. Then the created 2 ridges are sutured so that the diaphragm is plicated. BENEFITS: Once the stapler was applied to make 2 linear ridges, we easily sutured and gathered them without checking the damage of the intra-abdominal organs. Furthermore, reinforced ridges could be plicated without damaging the fragile diaphragm. We conclude that above described method is preferable for the diaphragm eventration in pediatric patients with fragile diaphragm and limited thoracic space.

Perforation of Meckel's diverticulum manifesting as aseptic peritonitis in a neonate: report of a case.

We report a case of perforated Meckel's diverticulum with aseptic peritonitis in a 17-day-old neonate. The baby had been brought to the hospital with fever and abdominal distention. Abdominal computed tomography showed a 5-cm abscess in the lower abdomen, and emergency laparotomy was performed for suspected perforated appendicitis. However, we found a perforated Meckel's diverticulum. No bacteria were detected in the purulent ascites from the peritoneal cavity. We speculate that the narrow lumen between the small intestine and the diverticulum, accompanied by poor self-emptying had caused acute inflammation resulting in perforation of Meckel's diverticulum. The anatomic limitations in "walling off" the perforated Meckel's diverticulum by the surrounding loops of small intestine prevented the bowel contents from spreading within the peritoneal cavity.

[Tamoxifen-induced severe hypertriglyceridemia--report of 3 cases].

Tamoxifen, an anti-estrogen, has been used for a long time as an adjuvant therapy in cases of estrogen receptor positive breast cancer. Tamoxifen also demonstrates some weak estrogenic activity. A small increase in serum triglycerides is commonly found after tamoxifen administration. Herein we report 3 cases of sever hypertriglyceridemia due to tamoxifen. Case 1 recovered with tamoxifen withdrawal. Tamoxifen was replaced with toremifene in case 2. The level of triglyceride decreased significantly after the change of agent. Tamoxifen was discontinued and anastrozole administration was started in the third patient. Her triglyceride levels improved. Tamoxifen-induced severe hypertriglyceridemia seen in these patients was an effect of its estrogen action. Anastrozole has been used to treat postmenopausal metastatic breast cancer, and several clinical trials in the adjuvant setting are ongoing. Anastrozole does not affect lipid metabolism. Therefore, anstrozole might be safe for patiens with abnormal triglyceride profiles during tamoxifen treatment. We recommended that a periodic serum triglyceride check is needed for patients treated with tamoxifen.