Reoperation for Hirschsprung Disease: Two cases of Vanishing Ganglion Cells and Review of the Literature.

Hirschsprung disease (HD) is characterized by circumferential aganglionosis of the rectum with variable proximal bowel involvement. The underlying pathogenesis is due to failure of caudal migration of neural crest cells during pre-natal development, causing functional bowel obstruction. Definitive therapy is surgical resection; however, a subset of patients will require reoperation.

Clinico-histopathological correlation of symptomatic left main coronary artery electrocardiographic ischemia pattern in a young child with hypertrophic cardiomyopathy.

The specific electrocardiographic (ECG) pattern of left main coronary artery ischemia is exceptionally rare in children and under recognized. Occasional reports are bereft of a detailed mechanistic ECG description and limited to dissection, spasm, or anomalous origin of the left main coronary artery. An association with pediatric hypertrophic cardiomyopathy (HCM) is hitherto unreported.

Revisiting the Newly Modified Criteria for Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) and Reporting Newly Identified Genes.

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia is an inherited cardiomyopathy, characterized by replacement of the RV muscle wall with fibrofatty tissue. The diagnosis is challenging, due to the absence of a unique presentation and a lack of specific reproducible diagnostic criteria. Slides and additional clinical information including follow up from 16 cases were reviewed.

Histopathology of the Conduction System in Long QT Syndrome.

While much is known about the channelopathy disorder Long QT Syndrome (LQTS), the histopathological findings and their implications on the disease have remained largely unexplored to date. In this review, we discuss the background of LQTS and highlight the importance of histological findings in the absence of genetic markers or when genetic testing is unavailable. Three pediatric cases of LQTS were identified, evaluated histologically, and compared to two adult cases.

Chronic Recurrent Multifocal Osteomyelitis (CRMO): A Study of 12 Cases from One Institution and Literature Review.

Background: CRMO is a sterile auto inflammatory bone disease that affects the pediatric population. Recently, single gene mutations in LPIN2, DIRA, and IL1RN have been reported in murine models of CRMO.

Materials And Methods: The medical records and histopathological slides of twelve patients were reviewed.

Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation.

Background: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a lethal congenital disorder characterized by a large, non-obstructed bladder, microcolon, and lack of proper peristalsis.

Materials And Methods: Five cases of MMIHS were identified, confirmed histologically and were predominantly female (F:M, 4:1). DNA sequencing was also performed.

Urothelial Rests, Incidental Finding in a Patient with Acute Appendicitis: A Case Report and Literature Review.

Urothelial rests, also known as Walthard rests, are benign nests of epithelial cells that most often are found in the female gynecologic tract. Only four of these urothelial rests have been described in the appendix. A 10-year-old female underwent an appendectomy for appendicitis.

Giant Anal Fibroepithelial Polyp in a Healthy Teenage Boy: A Case Report and Literature Review.

Fibroepithelial polyps of the anus have been described as mucosal hypertrophy in response to chronic irritation or tissue damage. Lesions usually remain small and mostly present in elderly adults with local disease. An otherwise healthy 15-year-old male presented with a giant pedunculated mass projecting out of the anal verge that enlarged over 2 years, causing discomfort.

Pediatric Right Ventricular Cardiac Steatosis following Immunosuppressive Treatment.

Right ventricular myocardial fatty infiltration has been observed in pediatric cardiac allografts with an associated decrease in graft life expectancy. A possible explanation included an immunosuppressant drug effect which prompted us to examine common factors between non-cardiac transplanted immunosuppressed patients and postmortem hearts of pediatric patients who died of non-cardiac causes. Sixty-one of 1,030 pediatric autopsies were from immunosuppressed children who were treated with corticosteroids for malignant tumors, non-cardiac transplantations, or other chronic clinical conditions.

Correlation Between E6 and E7 Oncogenes and Malignant Transformation of Laryngeal Papillomatosis (LP) with Human Papillomavirus (HPV) in Pediatric Population.

Laryngeal papillomatosis (LP) is the most common benign neoplasm affecting the upper respiratory tract mucosa in children. The most common genotypes of HPV associated with LP are types 6 and 11. : Among 187 patients identified in our institution with LP, four cases showed malignant transformation to invasive squamous carcinoma.

Cardiac Magnetic Resonance Imaging Macroscopic Fibro-Fatty Infiltration of the Myocardium in Pediatric Patients with Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia.

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited, progressive form of cardiomyopathy, which is characterized by fibrofatty replacement of the myocardium. While the gold standard for diagnosis remains pathologic evaluation of biopsy, advances in noninvasive imaging, including cardiac magnetic resonance imaging (CMRI), have led to improved clinical diagnosis. We report three additional cases of pediatric patients that have pathologically confirmed ARVC/D with CMRI images, demonstrating extensive macroscopic fatty infiltration of the right and left ventricular myocardium.

Increased Incidence of Villitis in Placentas Exposed to Chemotherapy During Pregnancy: Is There a Correlation?

We have identified 9 pregnant patients who were diagnosed with malignancy and initiated chemotherapy during their second trimester (cervical cancer [n = 3], leukemia [n = 3], breast cancer [n = 2], and Hodgkin's lymphoma [n = 1]). Five of the patients' placentas were small for gestational age (SGA). Pathologic examination revealed inflammatory changes in 4 of the placentas: 2 from the SGA placentas and 2 from non-SGA placentas.

Intravascular Papillary Endothelial Hyperplasia in the Coronary Artery: An Unusual Cause of Massive Myocardial Infarction in Hypoplastic Left Heart Syndrome.

: Intravascular papillary endothelial hyperplasia (IPEH) is a benign vascular lesion that usually involves the head and neck or extremities. Involvement of the coronary arterial system is unreported. : A 1-month-old patient born with hypoplastic left heart syndrome died from a massive myocardial infarction shortly after first stage palliation with Norwood/Sano.

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.

The Vanishing Twin Syndrome: Two Cases of Extreme Malformations Associated With Vanished Twins.

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.

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

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.

Correlation of Ezrin Expression Pattern and Clinical Outcomes in Ewing Sarcoma.

. Ezrin is a membrane-cytoskeleton linker protein that has been associated with metastasis and poor outcomes in osteosarcoma and high-grade soft tissue sarcomas. The prognostic value of ezrin expression in Ewing sarcoma is unknown.

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.

Impact of lymph node evaluation in adjuvant and neoadjuvant chemotherapy settings on survival outcomes in Wilms tumour: a review of 185 cases from a single institution.

It is unclear if lymph node sampling in Wilms tumour, though critical for staging purposes, affects survival outcomes. The value of lymph node sampling in patients treated with neoadjuvant chemotherapy (NAC) is even more uncertain. We reviewed our institutional data to determine the impact of lymph node sampling on survival, as well as its role in the context of NAC.

Key Histopathologic Features of Liver Biopsies That Distinguish Biliary Atresia From Other Causes of Infantile Cholestasis and Their Correlation With Outcome: A Multicenter Study.

The liver biopsy guides diagnostic investigation and therapy in infants with undiagnosed cholestasis. Histologic features in the liver may also have prognostic value in the patient with biliary atresia (BA). We assessed the relative value of histologic features in 227 liver needle biopsies in discriminating between BA and other cholestatic disorders in infants enrolled in a prospective Childhood Liver Disease Research Network (ChiLDReN) cohort study by correlating histology with clinical findings in infants with and without BA.

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

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.

Modified Rapid AChE Method (MRAM) for Hirschsprung Disease Diagnosis: A Journey from Meier-Ruge Until Now.

Hirschsprung disease (HSCR) can be diagnosed using a variety of histological and immunohistochemical methods and stains. Because of the nature of the condition and the need for a rapid diagnostic confirmation, those methods with high accuracy and fast turnaround times are preferred. The authors of this paper have used rapid acetylcholinesterase (AChE) immunohistochemistry in conjunction with standard H&E in order to optimize diagnostic accuracy, and present a modified rapid AChE method (MRAM) that has been successfully utilized for over 20 years.

Imaging mass spectrometry assists in the classification of diagnostically challenging atypical Spitzoid neoplasms.

Background: Previously, using imaging mass spectrometry (IMS), we discovered proteomic differences between Spitz nevi and Spitzoid melanomas.

Objective: We sought to determine whether IMS can assist in the classification of diagnostically challenging atypical Spitzoid neoplasms (ASN), to compare and correlate the IMS and histopathological diagnoses with clinical behavior.

Methods: We conducted a retrospective collaborative study involving centers from 11 countries and 11 US institutions analyzing 102 ASNs by IMS.