A case of hemophagocytic syndrome in a patient with fulminant ulcerative colitis superinfected by cytomegalovirus

Hemophagocytic syndrome (HPS) is an uncommon hematological disorder that manifests as fever, splenomegaly, and jaundice, with hemophagocytosis in the bone marrow and other tissues pathologically. Secondary HPS is associated with malignancy and infection, especially viral infection. The prevalence of cytomegalovirus (CMV) infection in ulcerative colitis (UC) patients is approximately 16%. Nevertheless, HPS in UC superinfected by CMV is very rare. A 52-year-old female visited the hospital complaining of abdominal pain and hematochezia for 6 days. She was diagnosed with UC 3 years earlier and had been treated with sulfasalazine, but had stopped her medication 4 months earlier. On admission, her spleen was enlarged. The peripheral blood count revealed pancytopenia and bone marrow aspiration smears showed hemophagocytosis. Viral studies revealed CMV infection. She was treated successfully with ganciclovir. We report this case with a review of the related literature.

Entecavir Therapy for Patients with Hepatitis B Virus-related Decompensated Cirrhosis / 대한소화기학회지

BACKGROUND/AIMS: Entecavie (ETV) has a potent antiviral effect and low rates of resistance in hepatitis B virus (HBV) and is the first-line monotherapy in patients with HBV-related decompensated cirrhosis. We evaluated the efficacy of 12 months treatment with ETV and tried to determine predictive factors of response. METHODS: Forty-five consecutive decompensated cirrhotic patients who received ETV (0.5 mg/day) for more than six months were included. All patients were positive for HBV DNA, and the Child-Turcotte-Pugh (CTP) scores were over 8 point. Seventeen patients were HBeAg-positive. CTP score, model for end-stage liver disease (MELD) score, serum markers of liver function and HBV DNA were assessed every 3 months. RESULTS: ETV treatment for 12 months resulted in improvement of CTP and MELD scores. Pre-treatment mean CTP and MELD score were decreased from 10.1 (+/-2.0) and 13.48 (+/-4.05) to 7.24 (+/-2.0) and 9.68 (+/-4.85) at 12 months, respectively. The 1-year cumulative rates of HBV DNA negativity and HBeAg loss were 88.9% and 52.9%, respectively, by intention-to-treat analysis. Thirty-two (71.1%) showed improvement in CTP score. Eleven patients did not show change, and 2 patients got worse. The AST/ALT, albumin, bilrubin, prothrombin time were significantly normalized within six months. The good responder group had high level of prothrombin time than the poor responder group (p=0.004). CONCLUSIONS: Our result shows that entecavir can improve liver function in about 70% of patients with HBV related decompensated liver cirrhosis. INR may be a predictive factor of good response with entecavir in these patients.

A Case of Long-Segment Barrett's Esophagus with Mixed Connective Tissue Disease / 대한내과학회지

Barrett's esophagus is a metaplasia of the esophageal epithelium of any length, such that normal squamous epithelium is replaced by specialized columnar epithelium with goblet cells. It is important to diagnose and survey Barrett's esophagus because it is believed to be the major risk factor for development of esophageal adenocarcinoma. However, the prevalence of Barrett's esophagus in Korea is low. Mixed connective tissue disease (MCTD) is a systemic disorder in which patients have combinations of the clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis. Although gastroesophageal reflux disease is common in esophageal involvement in MCTD, long-segment Barrett's esophagus in MCTD has not been reported in Korea. We report here a 15 cm-long segment of Barrett's esophagus extending to the proximal esophagus in a female patient who has had MCTD for 2 years, and we review the literature.

A Case of Long-Segment Barrett's Esophagus with Mixed Connective Tissue Disease / 대한내과학회지

Barrett's esophagus is a metaplasia of the esophageal epithelium of any length, such that normal squamous epithelium is replaced by specialized columnar epithelium with goblet cells. It is important to diagnose and survey Barrett's esophagus because it is believed to be the major risk factor for development of esophageal adenocarcinoma. However, the prevalence of Barrett's esophagus in Korea is low. Mixed connective tissue disease (MCTD) is a systemic disorder in which patients have combinations of the clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis. Although gastroesophageal reflux disease is common in esophageal involvement in MCTD, long-segment Barrett's esophagus in MCTD has not been reported in Korea. We report here a 15 cm-long segment of Barrett's esophagus extending to the proximal esophagus in a female patient who has had MCTD for 2 years, and we review the literature.

A Case Report of Hajdu-Cheney Syndrome

Hajdu-Cheney syndrome (HCS) is a rare skeletal dysplasia that is characterized by acroosteolysis of the distal phalanges, distinctive craniofacial and skull changes, dental abnormalities and generalized osteoporosis. The clinical and radiologic characteristics are variable and these characteristics progress with age. This syndrome shows autosomal dominant inheritance with sporadic cases. The genetic defects or molecular pathogenesis of HCS are still unknown. We experienced a case of Hajdu-Cheney syndrome in a 20-year-old man who had generalized osteoporosis with multiple non-traumatic spine compression fractures. He had acroosteolysis of the hands and feet, wormian bones in the skull, facial dysmorphism (mid-facial flattening, micrognathia and bushy eyebrows), a high arched palate, malocclusion and short dental alveolar processes. HCS was diagnosed based on the clinical and radiologic evidence. For the differential diagnosis, we excluded the other possible causes of the acroosteolysis and wormian bones, including hyperparathyroidism, osteogenesis imperfecta, hypophosphatemia and mandibuloacral dysplasia. The specific treatment of HCS is unknown, but case reports with bisphosphonate treatment have been reported.