Regression of steatohepatitis-related cirrhosis.

The authors document regression of cirrhosis in an obese 56-year-old man after significant weight loss by sequential liver biopsies. The patient had a known history of steatohepatitis. His initial laboratory workup 6 years earlier revealed elevated liver enzyme activities and blood triglyceride levels, and negative viral hepatitis serology screen. A liver biopsy at that time showed histological features consistent with precirrhotic stage of active steatohepatitis. A liver biopsy performed 4 years later revealed progression of the disease to cirrhosis. Following this diagnosis he went on a special strict diet and lost 49 kg. His body mass index decreased from 46 to 28 during a 2-year period and his liver enzyme activities returned to normal. A liver biopsy at this time demonstrated significant regression of the liver fibrosis and disappearance of the steatosis and necroinflammation. In conclusion, massive weight loss resulted in resolution of liver fibrosis in this obese patient with steatohepatitis-related cirrhosis.

Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature.

OBJECTIVES: This study aims to discuss the clinical, laboratory and genetic findings, and treatment options for six patients who were diagnosed with Blau syndrome (BS)/early-onset sarcoidosis (EOS). PATIENTS AND METHODS: The study included four patients (2 males,2 females; mean age 7 years; range 4 to 10 years) with EOS and two siblings (1 male, 1 female; mean age 10 years; range, 9 to 11 years) with BS. Age, age of initial symptoms, age of diagnosis; articular involvement, presence of uveitis, dermatitis, or fever, other organ involvement, laboratory findings, results of metabolic tests for mucopolysaccharidosis and mucolipidosis, results of genetic, pathologic, and immunologic tests, radiologic findings to evaluate skeletal dysplasia, and treatment options were collected. RESULTS: The median age at diagnosis of all patients was 6 years (range, 1 to 10 years). Five patients had camptodactyly and bilateral boggy synovitis in the wrists and ankles, one had granulomatous inflammatory changes in the liver and kidney biopsy, and one had attacks of fever and granulomatous dermatitis. None had uveitis. The detected mutations in nucleotide-binding oligomerization domain containing 2 (NOD2) were P268S (rs2066842), M513T (rs104895473), R702W (rs2066844), V955I (rs5743291), H343Y (rs199858111), and M491L (16:50745293). The treatments of patients included corticosteroids, non-steroid anti-inflammatory drugs, methotrexate, infliximab, adalimumab, anakinra, and canacinumab. CONCLUSION: Camptodactyly and boggy synovitis are important signs of BS/EOS. Methotrexate and tumor necrosis factor blockers are more effective in patients with predominantly articular symptoms. In patients 5 and 6 and their mother, we determined a novel M491L mutation in the NOD2 gene. Currently, this work is in progress towards identifying the pathogenesis and treatment options for this disease.

Evaluation of childhood solid pseudopapillary tumors of the pancreas.

OBJECTIVE: Solid pseudopapillary tumor (SPT) of the pancreas is an extremely rare primary tumor in the pediatric age group. It has a low malignant potential and the prognosis is good if radical resection of the tumor is performed. Local recurrence and distant metastasis has only rarely been reported following incomplete resection. METHODS: A retrospective review of the medical records of 6 patients diagnosed as SPT according to a histopathological examination at the Children's Hospital of Erciyes University School of Medicine between 2010 and 2017 was performed. Demographic characteristics, tumor localization and size, diagnostic method, immunohistochemical staining features, and medical and surgical treatments employed were recorded. RESULTS: There were 4 girls and 2 boys with the diagnosis of SPT included in this study. The mean age of the patients was 14 years (min-max: 13-16 years). The most common presenting complaint was abdominal pain. The mass lesion was at the head of the pancreas in 3 cases (50%) and the tail of the pancreas in the remaining 3 patients (50%). A Whipple procedure was performed in 3 cases, a distal pancreatectomy in 1, a distal pancreatectomy plus splenectomy in 1, and a subtotal pancreatectomy in 1patient. Immunohistochemistry revealed positive staining for beta-catenin, keratin, CD56, vimentin, and CD10 in all cases. CONCLUSION: SPT is a rarely seen pancreatic mass with low rate of malignancy. Diagnosis may be delayed due to its asymptomatic nature in most cases and a lack of descriptive symptoms. The survival rate is quite high after radical resection.

Late presentation of congenital diaphragmatic hernia.

Late presentation of congenital diaphragmatic hernia is 5-30% of all congenital diaphragma hernia cases. It can present as Morgagni, Bochdalek and paraesophageal hernia. Misdiagnosis can result in significant morbiditiy. A 17-month-old girl presented with vomiting and abdominal pain. On physical examination, circulatory disturbance, cyanosis, abdominal distantion were present. Her O2 saturation was 60% and she was tachycardic (180 bpm) and tachypneic (58 bpm) with hypotension (60/35 mmhg). Patient's heart and mediastinum were shifted into the right hemithorax on the chest X-ray. Bowel loops in the left hemithorax with air-fluid levels were seen in her plain X-ray and diaphragmatic hernia was seen in her computed tomography examination. She was referred to our center and operated within an hour. Herniated intestinal loops and stomach were observed from about 2 cm diameter defect of diaphragma were repaired primarily. She was extubated in postoperative 4th day. Late presentation of congenital diaphragmatic hernia may be confused with many situation and is difficult to diagnose without clinical suspicion. Accurate diagnosis and urgent treatment is lifesaving.