Typical Bronchial Carcinoid Metastasizing to the Brain: A Case Presentation

Introduction: Typicalbronchial carcinoid tumors are known for their relatively indolent behavior. There are only four reported cases in the medical literature describing typical bronchial carcinoids metastasizing to the brain. Little is known about the pathogenesis and presentation of this disease due to the very small patient population. CasePresentation: A 67-year-old Hispanic female presented to our hospital with a three-week history of right arm numbness and poor coordination. Computed tomography (CT) with intravenous contrast of the brain and subsequent magnetic resonance imaging demonstrated multiple enhancing nodular densities throughout the brain. CT with intravenous contrast of the chest, abdomen, and pelvis revealed a left hilar mass and a medial left upper lobe mass. Histopathological findings were consistent with a neuroendocrine neoplasm of bronchial origin. Conclusion: Although metastases to the central nervous system are very frequent with small cell carcinomas, their presence is very uncommon in well-differentiated neuroendocrine tumors such as the one we present here. This case raises questions about whether these tumors contain biomarkers that might predict a more aggressive behavior and if these patients might benefit from aggressive interventions similar to those taken in small cell carcinomas, such as prophylactic cranial radiation

Two Rare Cases of Hepatocellular Carcinoma after Kasai Procedure for Biliary Atresia: A Recommendation for Close Follow-Up

The instigation of the Kasai procedure in infants who are born with biliary atresia has led to increased survival in this population for over half a century. The many complications that arise as a result of biliary atresia led to an early death for most patients. However, the Kasai procedure is not without its own impediments. Among them is the development of hepatocellular carcinoma. We present two cases of hepatocellular carcinoma, after Kasai procedure, from two different age groups, as a recommendation that these patients should be even more closely monitored. Furthermore, if they are in need of transplant, we recommend that the explanted livers be carefully examined, as the tumor may not have been diagnosed preoperatively

A De Novo Germline APC Mutation (3927del5) in a Patient with Familial Adenomatous Polyposis: Case Report and Literature Review

Introduction Characterized by the development of hundreds to thousands of colonic adenomas, classic familial adenomatous polyposis (FAP) is one of the most common hereditary syndromes associated with an increased risk of colorectal cancer. Several studies have attempted to correlate specific APC mutations with clinical phenotype. 6 However, there is considerable variability in the expression of specific phenotypes within families and among individuals with identical mutations. 7 Case Presentation A 30 year-old Hispanic female presented to the emergency department with a 2-week history of persistent, worsening, left lower quadrant abdominal pain. She had no family history of malignancy. Sigmoidoscopy revealed innumerable polyps in the rectum and sigmoid colon and a large mass in the sigmoid colon. Biopsy of the mass revealed a moderately differentiated adenocarcinoma invading the subserosa. Endoscopy revealed innumerable polyps. Genetic testing of the patient via southern blot revealed a germline APC mutation 3927del5, resulting in a premature truncation of the APC protein at amino acid position 1312. Conclusion Genetic information has only recently started being incorporated into clinical care. More research and randomized clinical trials need to be conducted to definitively characterize random mutations. Once these mutations are further understood, FAP patients may be able to be risk stratified and this may ultimately improve the screening, diagnosis, and treatment of this rare condition

Heterotopic gastric mucosa mimicking a Meckel’s diverticulum in a young girl

Heterotopic gastric mucosa (HGM) is a rare, but acknowledged source of gastrointestinal pathology in pediatric patients. Sometimes clinically confused with a Meckel’s diverticulum, HGM diagnosis is often made postoperatively by pathology. We present a case of jejunal HGM with a positive technetium pertechnetate scan in the right lower quadrant that resembled a Meckel’s diverticulum

Surgical management of bronchopulmonary malformations

Bronchopulmonary malformations (BPM) are rare conditions, which typically arise below the carina and can result in significant morbidity (infection and/or hemorrhage) and mortality (respiratory failure). All children with BPM surgically treated from 2001-2014 at a tertiary care children's hospital were identified. Patient demographics, surgical indications, procedure type, estimated blood loss, pathology, perioperative complications, length of stay, and outcomes were analyzed. A total of 41 BPM patients underwent surgery with 98% overall survival (one abdominal BPM expired) but 100% for thoracic lesions. Resections were performed thoracoscopically (37%), thoracoscopy converted to open (22%), and via thoracotomy (37%). Poor visualization (67%) or inability to tolerate single lung ventilation (33%) led to conversions. No conversions resulted from hemorrhage or received blood transfusions. Patients with prenatally diagnosed BPM were more likely to undergo thoracoscopic surgery (odds ratio [OR], 18.2) versus nonprenatally diagnosed, P = 0.002. Open/converted patients had longer chest tube days (6.2) versus thoracoscopic (2.9), P = 0.048. Additionally, respiratory distress was a more common indication in patients aged <4 mo (OR, 28.0) versus ≥4 mo and <6 kg (OR, 40.5) versus ≥6 kg, P < 0.001. Open resections were more common in patients aged <4 mo (OR, 26.3) versus ≥4 mo, P = 0.002. Operative time was shorter and estimated blood loss (mL/kg) was greater for <6 versus ≥6 kg, P < 0.05. BPM resections have high overall survival. Chest tube days are shorter among thoracoscopic patients, but conversion to thoracotomy can avoid hemorrhage and need for transfusion. Size and respiratory distress limit use of thoracoscopy in young infants with BPM

Possible Genetic Origin of Limb-Body Wall Complex

Limb body wall complex (LBWC) is characterized by multiple severe congenital malformations including an abdominal and/or thoracic wall defect covered by amnion, a short or absent umbilical cord with the placenta almost attached to the anterior fetal wall, intestinal malrotation, scoliosis, and lower extremity anomalies. There is no consensus about the etiology of LBWC and many cases with abnormal facial cleft do not meet the requirements for the true complex. We describe a series of four patients with LBWC and other malformations in an attempt to explain their etiology. There are several reports of fetuses with LBWC and absent gallbladder and one of our patients also had polysplenia. Absent gallbladder and polysplenia are associated with laterality genes including HOX, bFGF, transforming growth factor beta/activins/BMP4, WNT 1–8, and SHH. We postulate that this severe malformation may be due to abnormal genes involved in laterality and caudal development