Cardiac Juvenile Xanthogranuloma in an Infant Presenting with Pericardial Effusion

Juvenile xanthogranuloma is a rare histiocytic disorder of childhood mainly affecting skin and rarely deep soft tissues and viscera. We report a 2‐month‐old infant who presented with respiratory distress secondary to a large pericardial effusion associated with an epicardial mass. Excisional biopsy was performed and the mass was diagnosed as juvenile xanthogranuloma. The child is well without evidence of disease 8 months following the excision. The corresponding literature on juvenile xanthogranuloma with cardiac manifestations is reviewed.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99091/1/chd688.pd

False-negative Histoplasma antigen in acute pulmonary histoplasmosis: the value of urinary concentration by ultrafiltration and heat denaturation of serum proteins in detection of Histoplasma antigen

We report an infant with localized pulmonary histoplasmosis in whom Histoplasma antibody assays, quantitative Histoplasma urine and serum antigen concentrations, and histopathologic findings of a mediastinal mass were nondiagnostic. A provisional diagnosis of histoplasmosis was established by using laboratory methods that increase the sensitivity of the antigen assay using ultrafiltration of urine and ethylenediaminetetraacetic acid/heat denaturation of serum proteins

Infrequent Placental and Fetal Involvement in SARS-CoV-2 Infection: Pathology Data from a Large Medical Center

In order to determine the frequency of SARS-CoV-2 placental and fetal involvements, we analyzed placentas of 197 women positive for infection at delivery and fetal tissues in cases of pregnancy loss in women positive by SARS-CoV-2 PCR (N = 2) and COVID-19 serology (N = 4), using in situ hybridization (ISH), immunohistochemistry (IHC) and, in selected cases, RT-PCR of tissue homogenates. The virus was identified in situ, accompanied by intervillositis, in 2 of 197 placentas (1.02%). In three more cases, SARS-CoV-2 was detected by tissue PCR without in situ localization and placental inflammation. There were no maternal mortality or association of placental infection with the clinical severity of COVID-19. All tested neonates born to SARS-CoV-2-positive women (N = 172) were negative for the virus. There were three pregnancy losses among 197 infected women and in two cases available fetal tissues were negative for SARS-CoV-2. In one of four fetal autopsies performed in women with positive COVID-19 serology, the mother-to-child transmission (MTCT) could be inferred based on positive SARS-CoV-2 nucleocapsid IHC in fetal pulmonary endothelium. Placental involvement by SARS-CoV-2 is rare, but may be underestimated due to its transient nature. MTCT is even rarer, supporting the protective role of placenta in SARS-CoV-2 infection

Early onset colon cancer affected by Lynch syndrome

Lynch syndrome is an autosomal dominant disorder in which one's DNA mismatch repair mechanism is impaired, resulting in an increased risk of developing colon and endometrial cancers, as well as other malignancies. With such an increased risk of colorectal cancer, patients diagnosed with Lynch syndrome should undergo colonoscopy screening every 1–2 years beginning at ages 20 to 25 or two to five years prior to earliest diagnosis of colorectal cancer in their family members. In patients with Lynch syndrome, colorectal cancer usually presents after the fourth decade of life. Few cases have been reported in pediatric patients with early onset colorectal cancer. We report here a 16-year-old patient who presented initially with symptoms characteristic of appendicitis. Following a CT scan suggesting perforated appendicitis, the patient was treated with intravenous antibiotics with a scheduled interval appendectomy three months later. Pathology reports from the interval appendectomy showed that the specimen contained a well-to-moderately differentiated adenocarcinoma. The patient then underwent robot assisted right hemicolectomy as definitive management, which demonstrated that the tumor originated in the cecum with invasion into the submucosa and focally infiltrating the muscularis propria. This case illustrates the need to be cognizant that cancer can present similarly to appendicitis, to be aware of the increasing incidence of colon cancer in younger patients, and to catalyze the acceptability of robotics for minimally invasive surgery. Keywords: Lynch syndrome, Pediatric colon cancer, Robotic colectom

Sudden progressive abdominal pain due to large peritoneal desmoid tumor: A case report with review of literature

AbstractDesmoid tumor (musculoaponeurotic fibromatosis) is a rare locally aggressive soft tissue tumor. A subset of cases is associated with familial adenomatous polyposis (FAP), governed by the APC (adenomatous polyposis coli) gene. Typically, an intra-abdominal desmoid is a painless lump or mass with a slow progression. We report a case of 14 year old male with Asperger syndrome who presented to our hospital with acute onset of progressively worsening abdominal pain. On the physical examination a large abdominal mass was palpated in the left upper quadrant. An abdominal CT (computerized tomography) scan confirmed the mass. The tumor was resected with free tumor cell margin. The histological diagnosis was desmoid fibromatosis. The nuclear β-catenin immunohistochemistry was positive. The tumor had encroached the splenic vessels and infarcted spleen. This splenic infarction was most likely the cause of the sudden abdominal pain. The patient is alive with no postoperative symptoms or evidence of the disease 6 months after the surgery. Family history and genetic analysis of the APC gene were negative for FAP