Nasim Khoshnam

Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature

The majority of thoracic aortic aneurysms (TAA) in the pediatric population are due to post repair etiology (iatrogenic). Although rare, underlying inheritable disease and congenital cardiac anomalies represent the most common non-iatrogenic cause of TAA among patients in this age group (1-21 years of age). Herein, we present a case series of 9aortic aneurysms with varying underlying etiology. We discuss the molecular genetic basis of these syndromes in conjunction with the radiological findings and histological description utilizing the newly published consensus criteria article.

The Vanishing Twin Syndrome

Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the “vanished” fetal sac. We propose anastomotic placental vasculature as a contributing factor to the observed fetal malformations. Additionally, genetic or teratogenic factors may have been attributed to the demise of the first twin and the anomalies seen in the other twin. While such instances are rare, they are important to consider when counseling patients regarding outcomes associated with a monochorionic vanished twin.

Suppurative Granulomatous Cholecystitis in a Pediatric Chronic Carrier with Salmonella enterica serotype Typhi: A Case Report and Review of Literature

Abstract Bacterial infection of Salmonella enterica serotype Typhi is rare in the United States but endemic in many developing countries. Approximately 3–5% of patients become chronic asymptomatic carriers. We describe an atypical presentation of S. enterica serotype Typhi infection in a 10-year-old male, whose cholecystechtomy and bile culture revealed chronic carrier status despite negative stool tests and the absence of gallstones. The gallbladder showed marked thickening of the wall with an intense suppurative granulomatous reaction.

Cardiovascular and Respiratory Systems

Primary tumors of the lung and heart are very rare in children as compared to metastatic disease which, although uncommon, is still seen more often. Thus, three entities are discussed here, pleuropulmonary blastoma, inflammatory myofibroblastic tumor, and histiocytoid cardiomyopathy, in each of which there has been recent progress in understanding their molecular pathogenesis. Discussion will also focus on the pathologic and molecular features of cardiac fibroma and NUT midline carcinoma.

Primary Pediatric Breast Lesions: Comparing the Prevalence of Malignancies in the Middle East with North America; Review of 1031 Cases

ABSTRACT Benign breast masses are uncommon but are becoming more recognized among the pediatric population. Malignant breast lesions are very rare. The aim of our study was to review and compare the demographics, clinical presentation, treatment, and outcomes of breast lesions, including primary malignancies, and to discuss theories that may explain why there is an increased rate of breast cancers diagnosed at a younger age in the Egyptian population. A total of 1031 cases were reviewed. Comparisons were made between the Egyptian (n = 846) and US (n = 185) cohorts. There were 30 (3.5%) malignant tumors in the Egyptian group with 17 (2%) deaths versus 3 (1.6%) malignant tumors in the US group with 2 (1%) deaths (p = 0.247). The relative risk of breast cancer in the Egyptian group was 2.16 (95% confidence interval (CI): 0.67–7.01) compared with the US group. The trend for increased risk of breast cancer in Egypt may be due to delayed diagnosis because of decreased awareness.

Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome

Calcifying nested stromal-epithelial tumor (CNSET) is a rare neoplasm. In the 31 reported cases, CNSET is predominantly found in young girls and women. Beckwith-Wiedemann syndrome (BWS) (OMIM #130650) is an overgrowth syndrome with an increased risk to develop cancer. Associations have been seen between BWS and embryonal tumors, especially Wilms tumor, hepatoblastoma, and adrenocortical carcinoma. Here we report on a female patient with BWS who presented with CNSET. Two other cases with the same association have been reported, with our case representing the third such reported in the literature. Although we recognize a potential reporting bias we speculate that CNSET may represent an unrecognized addition to the spectrum of BWS tumorigenesis.

Two Case Reports of Nodular Fasciitis: A Newly Recognized Placental Lesion

ABSTRACT We describe two occurrences of nontrophoblastic mesenchymal tumors of the placenta. The first placental tumor was found along the placental margin, and the second was identified close to the insertion of the fetal membranes along the placental disc. Microscopically both lesions demonstrated bland fibroblastic cells with intricate vasculature and inflammatory cells. Both lesions were negative for estrogen receptor (ER), progesterone receptor (PR), beta-HCG, PLAP, CD34, desmin, h-caldesmin, and smooth muscle actin by immunohistochemistry. Some cells were weakly positive for CD10, a nonspecific finding. The morphologic and immunohistochemical characteristics of these lesions were most consistent with nodular fasciitis, a tumor most commonly found in the soft tissues. FISH positive for USP6 gene rearrangement in our two patients confirmed the molecular similarity of these lesions to nodular fasciitis of soft tissue. Such lesions can be easily dismissed on gross placental examination as infarcts or thrombi, thus these rare entities are likely underreported.

Congenital Cyst of the Pancreas: A Case Report and Review of Literature.

ABSTRACT This is a case of a newborn female with congenital pancreatic cysts discovered incidentally. The 5-week-old infant had multiple abdominal cysts originating from the pancreas. When the radiologist catheter placement failed to alleviate the symptoms, the infant underwent laparoscopic excision. The lesion, however, recurred 11 months after the first excision, leading to a second surgical procedure including excision and marsupialization. A review of the literature revealed that this is a rare condition. Herein, we discuss the characteristics of the case, including medical imaging, drainage catheter placement, surgical treatment, pathological findings, and follow-up. Differential diagnoses, clinical presentations, treatment options, and patient outcomes are also discussed. Although rare, congenital pancreatic cyst should be considered in the differential diagnosis of an infant with cystic lesion of the pancreas.

Paracrine Effects of Leydig Cell Nodular Hyperplasia, Two Case Reports: A Neglected Phenomenon

ABSTRACT Leydig cell nodular hyperplasia (LCNH) is a lesion that is less characterized than the familiar Leydig cell tumors. The paracrine effects of these lesions on adjacent gonadal stroma have not been widely documented. We present two cases of precocious puberty in pre-pubertal boys found to have a single LCNH with adjacent focal maturation of the seminiferous tubules. Blood tests showed elevated serum testosterone and dehydroepiandrosterone (DHEAS). Ultrasound revealed unilateral testicular enlargement with irregular echogenicity. Radical orchiectomy was performed. Histologically Leydig cell nodular proliferation without destruction of surrounding tubules was seen. Mature seminiferous tubules undergoing spermatogenesis were noted adjacent to the lesion, while away from the lesion seminiferous tubules were as expected in pre-pubescent boys. These cases emphasize the potential presence of both paracrine and endocrine effects in Leydig cell nodular hyperplasia. However, instances of the endocrine effects of hyperplastic Leydig cell lesions are more widely reported than the paracrine effects.