First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination.

The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. This deletion is correlated using family history, prenatal ultrasound, microarray analysis of amniotic fluid, and ultimately, a medical autopsy examination to further elucidate phenotypic effects of this genetic variation. Incorporating the use of molecular pathology into the autopsy examination of fetuses with suspected congenital anomalies is vital for appropriate family counseling, and with the ability to use formalin-fixed and paraffin-embedded tissues, has become a practical approach in autopsy pathology.

Cases of transfusion-transmitted babesiosis occurring in nonendemic areas: a diagnostic dilemma.

BACKGROUND: Transfusion-transmitted babesiosis (TTB) has been rapidly increasing in incidence since the beginning of the 21st century. Asymptomatic individuals with Babesia infection are able to donate blood in the United States because of the lack of specific blood donation testing. Blood products collected in Babesia-endemic areas are distributed nationally; thus, clinicians in nonendemic states may fail to include babesiosis in the differential diagnosis of a patient who had a recent transfusion history and a fever of unknown origin. STUDY DESIGN AND METHODS: We report the details of two cases of clinical transfusion-transmitted babesiosis and one asymptomatic infection identified in red blood cell recipients in two nonendemic states (South Carolina and Maryland), which, when combined with three recent additional cases in nonendemic states, totals six recipient infections in three nonendemic states. RESULTS: Delayed diagnosis of transfusion-transmitted babesiosis places patients at risk for increased morbidity and mortality and may result in clinical mismanagement or unnecessary treatments. A peripheral blood smear should be reviewed in any patient with a recent transfusion and a fever of unknown origin. Prompt communication of the diagnosis among physicians is key to ensuring that patients with transfusion-transmitted babesiosis are treated expeditiously, and a transfusion service investigation is necessary to identify additional recipients from the same donor. CONCLUSION: TTB is appearing in traditionally nonendemic states because of blood product distribution patterns. Clinicians should include TTB on the differential diagnosis in any patient presenting who had a recent transfusion history and a fever of unknown origin, regardless of where the transfusion took place.

An Unusual Case of Mucinous Adenocarcinoma of the Lung Presenting as Septic Emboli.

This is a case of a 92-year-old female with multiple hospitalizations for dyspnea on exertion and hypoxemia. Her symptoms were initially thought to be secondary to pneumonia, and on subsequent admission, culture-negative endocarditis. A computed tomography (CT) of the chest was remarkable for numerous bilateral lung nodules of varying size, some of which had a cavitary appearance raising concern for septic emboli. While a transthoracic echo was unremarkable, a transesophageal echo found a small 3 mm echodensity at the tip of the right coronary leaflet of the aortic valve and a possible mobile echodensity on the tricuspid valve leaflet. These findings further supported a clinical diagnosis of endocarditis with septic emboli in the lungs. Initial bronchoscopy yielded an unremarkable biopsy and a bronchial alveolar lavage with the growth of Actinomyces odontolyticus. During a subsequent hospitalization, a repeat bronchoscopy with transbronchial biopsy revealed a final diagnosis of invasive pulmonary mucinous adenocarcinoma. This case highlights a unique presentation of mucinous adenocarcinoma of the lung initially masquerading as septic emboli, resulting in a delay in the final diagnosis.

Colonic Lymphangiomatosis.

Lymphangiomas are benign malformations of the lymphatic vessels which can be primary or secondary in etiology. Colonic involvement is rare, and the diagnosis is mostly incidental. Sometimes, the initial endoscopic appearance can be misleading. We present a case of colonic lymphangiomatosis presenting with free air under the diaphragm requiring surgical removal of the involved portion of the colon. The diagnosis was confirmed by the pathology of the resected specimen and its correlation with prior clinical information. The patient recovered well with an uneventful postoperative course and follow-up. This case demonstrates a rare complication of colonic lymphangiomatosis prompting definitive treatment by surgical resection.

Metastatic Plasmacytoid Urothelial Carcinoma Masquerading as a Primary Signet Ring Cell Carcinoma of the Duodenum.

Plasmacytoid urothelial carcinoma can histologically mimic gastrointestinal signet ring cell carcinoma, a potential diagnostic pitfall resulting in improper clinical management. We present a rare case of a malignant duodenal ulcer due to metastasis from plasmacytoid urothelial carcinoma. Only by histological and retrospective immunohistochemical comparison with the primary bladder tumor was this revealed as a metastasis from a plasmacytoid urothelial carcinoma. This case report highlights the importance of clinical correlation and comparison with any previous pathology specimens, the limitations of immunohistochemical staining, and the utilization of both old and new immunohistochemical tools when differentiating signet ring cell carcinomas of primary sites versus potential metastases.

Successful Treatment of a Balamuthia mandrillaris Cerebral Abscess in a Pediatric Patient With Complete Surgical Resection and Antimicrobial Therapy.

Cerebral amebic encephalitis due to Balamuthia mandrillaris is a rare yet typically fatal disease. As such, identification of the clinical characteristics, appropriate diagnostic workup and commencement of treatment is frequently delayed. Here, we present a case of a 4-year-old male with a B. mandrillaris cerebral abscess successfully treated with expedited neurosurgical resection and broad-spectrum antimicrobial therapy.

Assessing Presenting Symptoms, Co-Morbidities, and Risk Factors for Mortality in Underserved Patients With Non-Hereditary Early-Onset Colorectal Cancer.

Background The presenting symptoms and co-morbidities contributing to mortality in young patients (age < 50 years old) with colorectal cancer (CRC) are poorly understood. We reviewed these features in our patient population with non-hereditary early-onset CRC (EO-CRC). Study aim This study aimed to assess characteristics of patients with a diagnosis of non-hereditary EO-CRC, including presenting symptoms and metabolic disorders contributing to mortality in underserved areas of southwest Virginia. Methods In this retrospective observational study, we selected patients aged 18-50 years with a diagnosis of non-hereditary EO-CRC from 2008 to 2016 at Carilion Roanoke Memorial Hospital. The electronic medical record was queried to identify demographic data, medical history, histopathology results, lab values, and mortality. The cumulative risks of symptoms and co-morbid metabolic disorders was estimated using Kaplan-Meier curves. Results We identified 139 patients with non-hereditary EO-CRC (mean age 41.6 ± 6.9 years). Almost half of these patients were obese (BMI > 30), 30.9% had a diagnosis of hypertension, 29% had hyperlipidemia (HLD), and 17.35% had diabetes mellitus type 2 (DM2). Diagnosis was delayed by 4.5 months from initial presentation, and 17% had advanced disease (stage III/IV). Also, 68.5% of patients were symptomatic with one to three symptoms, most commonly with rectal bleeding (45.3%). The chronicity of HLD (≥5 years) was associated with reduced survival in our patients with EO-CRC. The survival of females with multiple metabolic disorders was reduced compared to females with a single metabolic disorder. Conclusions Multiple symptoms, chronic HLD, and female gender with multiple metabolic disorders were factors associated with poor outcomes in non-hereditary EO-CRC patients.