Fetal and Pediatric Pathology

Background: Breast phyllodes tumor has a distinct histologic appearance. There are no pediatric phyllodes tumors of the bladder in English literature reported. Case report: A 2-year-old boy presented with a urinary infection and obstructive urinary symptoms. A 3-cm slow-growing bladder mass revealed by repeated transabdominal ultrasonography was initially considered a ureterocele. Cystoscopic and laparoscopic exploration using pneumovesicum confirmed the diagnosis of a bladder neck tumor. Histologically, the features were of a benign phyllodes tumor, morphologically similar to those seen in breast tissue...

Background: Branchial cleft cysts or fistulae are common in pediatric surgical pathology and are cured by surgery. Lesions in this area may not show the classical features of a cyst or duct lined by squamous or respiratory epithelium and other differential diagnoses should be considered. Case report: A seven-year-old otherwise healthy boy presented with bilateral swelling of the lower neck and reported intermittent secretion of clear fluid on the right side. Excision of the right sided lesion revealed an ectopic salivary gland, the excision of the left showed only subtle fibrosis...

Background: Commonly, pediatric solid tumors occur independently. Only two patients with synchronous hepatoblastoma (HBL) and neuroblastoma (NBL) have been reported. Case reports: Two Chinese infants presented with abdominal mass at 10 and 8 months. Computed tomography (CT) scans in both revealed hepatic masses with additional mediastinal or adrenal masses. Pathology confirmed synchronous HBLs in the liver and NBLs in the mediastinum and adrenal. Next generation sequencing (NGS) found no remarkable germline mutations...

BACKGROUND: Skene's glands are the two largest paraurethral glands and the female homologue to the prostate glands. When their ducts become obstructed, cysts may be formed. This usually occurs in adult women. Most cases reported in pediatrics are neonatal, with a single report in a prepubertal girl. CASE REPORT: We present a 25-month-old girl with a 7 mm nontender, solid, oval, pink-orange paraurethral mass, with no change over a five-month period. Histopathology revealed the cyst to be lined with transitional epithelium consistent with a Skene's gland cyst...

Introduction: Cellular neurothekeoma is a benign tumor that mainly occurs in young children and adolescents. The aberrant expression of transcription factor E3 (TFE3) has not been reported in cellular neurothekeoma previously. Case report: We report four cellular neurothekeoma with aberrant immunohistochemical expression of TFE3 protein. The fluorescence in situ hybridization (FISH) showed no TFE3 gene rearrangement or amplification. Discussion/Conclusion: TEF3 protein expression may not be related to TFE3 gene translocation in cellular neurothekeoma...

Background: Previous research demonstrated the association between cyclooxygenase-2 (COX-2) gene polymorphisms and susceptibility to Kawasaki disease (KD). This study aims to detect the plasma concentration of COX-2 in different phases of KD patients and evaluate the relationship between COX-2 level and coronary artery lesion formation, therapeutic response to intravenous immunoglobulin. Methods: Plasma COX-2 levels were measured by enzyme-linked immunosorbent assay in KD patients during the acute (a-KD, n  = 52), subacute (s-KD, n  = 46), and convalescent (c-KD, n  = 43) phase...

Objective: Red cell distribution width (RDW) is a parameter of complete blood count (CBC). The RDW to platelet count ratio (RPR) is a new index that has been shown to reflect the severity of inflammation. We aim to determine the reference interval (RI) of RPR for premature newborns. Study design: The medical records of preterm infants who were followed up between January 2016 and December 2018 were reviewed. CBC levels were measured in 144 infants at <72 hours of age. Results: CBCs of infants (gestational age from 28 to 35weeks) had a RI of 0...

Background: Congenital epulis is a benign gingival tumor whose differential diagnosis includes other oral-facial masses such as teratoma, hemangioma, lymphatic malformation and dermoid cysts. This tumor can cause obstruction of the airway or feeding problems in the newborn. Surgical excision is the treatment of choice. Case Report: We present a case of congenital epulis, diagnosed prenatally with ultrasonography. Conclusion: Although difficult, a defined prenatal image of congenital epulis is possible by means of accurate high-resolution ultrasonography...

Objective: To investigate the clinicopathological features of children with Sturge-Weber syndrome and to analyze the correlation between the distribution area of leptomeningeal angiomatosis, the degree of cerebral cortical calcification, and the degree of cerebral atrophy associated with epileptic seizures. Methods: 10 children were diagnosed with SWS with FCD IIIc by histopathology and immunohistochemistry. Spearman correlation analysis was used to calculate the association of SWS with FCD IIIc and seizures in children...

OBJECTIVE: We assessed the frequency and type of associated congenital anomalies encountered with fetal tethered spinal cord (TSC) determined prenatally. METHOD: A retrospective review was conducted based on the associated fetal abnormalities following diagnosis of low-lying fetal conus medullaris during the prenatal ultrasound. RESULTS: Of the 26 fetuses with low-lying conus medullaris, four were solitary TSC and 22 had TSC combined with associated congenital malformations, including four cases with spina bifida occulta, four cases with spina bifida aperta, one case with severe hydrocephalus, and 13 cases with multisystem congenital malformations...

Objective: Placental abruption (PA) is an obstetric emergency. This study investigated the use of platelet indices in PA in its early stages to determine if it could aid in diagnosis. Materials and Methods: Sixty-two pregnant women with PA and 130 pregnant women who delivered due to idiopathic preterm delivery were included in this case-control study. Blood samples including platelet indices, biochemical, and coagulation parameters were obtained before cesarean section. Maternal and neonatal outcomes were recorded...

BACKGROUND: Bronchopulmonary dysplasia is a chronic lung disease commonly seen in preterm infants. It is characterized by delayed development of the alveoli and lung fibrosis. Protease-activated receptor 2 (PAR2) is an inflammatory driver that plays a proinflammatory role mainly through the P38 MAPK/NF-κB signaling pathway. METHODS: Newborn rat pups were kept under air or oxygen at >60% concentration. Lung tissues were collected at postnatal days (P) 1, 4, 7, and 10 to observe pathological changes and take measurements...

Background: Yolk sac tumor is a germ cell tumor (GCT) that occurs in infants and adolescents and affects various sites. There is a trend to treat pediatric renal tumors before a tissue diagnosis. We report a renal yolk sac tumor clinically misdiagnosed as Wilms tumor, based on ultrasound (US) and MRI. Case Report: This 21-month-old male infant was discovered to have a space occupying lesion in the right kidney. Because the tumor was large, initial radiotherapy preceded surgical resection. Histologically, the tumor was a yolk sac tumor...

Background : Noncompaction of ventricular myocardium is a cardiomyopathy that typically involves the left ventricle or both ventricles; it has often been associated with mutations in genes encoding sarcomere proteins. Little is known about isolated right ventricular noncompaction, as only a few cases have been reported. Case Report: A 30 year old G2P1 woman experienced a spontaneous fetal loss at 19 weeks and 4 days. An ultrasound examination at 19 weeks showed right ventricular and tricuspid valve abnormalities, ascites, and early hydrops...

Objective: The aim of this study is to compare the prenatal ultrasonography (US) and the autopsy findings of the fetuses of 12-24th gestational weeks. Methods: This retrospective study comprises 84 fetuses autopsied. The correlation between US and autopsy findings was classified into four categories: (A) Compatible, (B) Minor findings added, (C) Major findings added, and (D) Incompatible. Results: Malformations were the most common medical termination indication. The most frequent findings at autopsy were multiple system findings followed by central nervous system...

Objective: We explored the frequency of TP53 gene mutations in chorangiomas (CA) and chorangiomatosis (CM). Materials and -methods: By Sanger sequencing, we evaluated mutations in exons 4-6 of the TP53 gene in CM and CA regions of placentas. Results: In total, 7/11(63.6%) CAs and 24/26 (92.3%) CMs had TP53 mutations, with a significantly higher frequency in the latter. Mutations in both groups predominately involved exon 4, most commonly at the 119th C. The mutation types at the 119th C were C/G and G/G. Among the patients with exon 4 mutations at the 119th C, C/G mutations, the most common type, were observed more frequently in the CM group (63...

Purpose: We evaluated the obstetrical outcomes, ultrasonographic characteristics, and final diagnosis in pregnancies with fetal megacystis (FM). Methods: We evaluated the obstetrical outcomes and associated structural abnormalities of fetuses with FM detected between FM between 2000 and 2021. Results: 17 FM were diagnosed, 16 had follow up. 16 were early megacystis. 14/16 (87.5%) of pregnancies were terminated, 1/16 (6.25%) resulted in intrauterine death, and 1/16 (6.25%) survived. FM was associated with 13 other abnormal sonographic findings in 12/16 (75%) pregnancies...

Background: We reviewed the literature comparing the pathological characteristics of singleton births conceived after assisted reproductive technology (ART) with those after spontaneous conception. Methods: We reviewed PubMed, EMBASE, Ovid MEDLINE, Google Scopus, Scholar, Cochrane Central Register of Controlled Trials and the Web of Science for the previous 10 years, up to November 2022. Results: Four eligible studies included 3445 placentas, 806 after ART (IVF/ICSI). Placentas after ART differed in frequency of retroplacental and marginal hematomas ( p  = 0...

Background : Sepsis is a severe illness that can affect preterm, term, and young infants, and is often associated with negative cultures. Case report : A 2-year-old boy, with a previous partial colectomy after birth, presented with abdominal complaints and clinical sepsis. We empirically treated with meropenem and linezolid. Blood cultures were sterile, and fecal cultures demonstrated no pathogenes. Metagenomic next-generation sequencing identified Clostridium symbiosum from blood sample. The result supported the continued use of the antibiotic regimen...

Objective: In this study, we investigate the molecular rearrangement of FOXO1 in alveolar rhabdomyosarcoma (ARHS) in Saudi pediatric patients. Method: We performed a molecular detection of molecular translocation in 30 pediatric cases of ARHS using FOXO1 dual color break-apart FISH probe (ZytoLight®, 13q14.11) and PAX5 dual color break-apart FISH probe (ZytoLight®, 9p13.2). Results: All analyzable cases of ARHS demonstrated FOXO1 translocation whereas PAX5 translocation was not detected in any case...