Pediatric pathology

Langerhans cell histiocytosis (LCH) of the stomach is rare. Moreover, it is usually found in pediatric patients with systemic diseases and may be associated with a poor prognosis. Solitary gastric LCH in adults is extremely rare and is often misdiagnosed or missed. The aim of our study was to review cases of gastric LCH and explore the characteristics of the disease further. A retrospective study of all patients admitted with solitary gastric LCH was conducted between 2013 and 2023. Clinical manifestations, endoscopic and pathological features, immunophenotypes, and molecular changes were collected from medical records...

AIM: Diffuse leptomeningeal glioneuronal tumor (DLGNT) is an innovative, rare entity. It mostly affects children and adolescents. We wanted to highlight the diagnosis, follow-up, and treatment options for this entity by examining pediatric patients diagnosed with DLGNT by molecular pathological evaluation and next generation sequencing at our center. MATERIAL AND METHODS: In this retrospective analysis, patients diagnosed with DLGNT between January 2017 and December 2022 are outlined according to their demographic data, radiological data, pathology results, treatments, and follow-up data...

Integration of molecular data with histologic, radiologic, and clinical features is imperative for accurate diagnosis of pediatric central nervous system (CNS) tumors. Whole transcriptome RNA sequencing (RNAseq), a genome-wide and non-targeted approach, allows for the detection of novel or rare oncogenic fusion events that contribute to the tumorigenesis of a substantial portion of pediatric low- and high-grade glial and glioneuronal tumors. We present two cases of pediatric glioneuronal tumors occurring in the occipital region with a CLIP2::MET fusion detected by RNAseq...

OBJECTIVES: Continuous curriculum improvements reveal the dedication of policy-makers to raising the quality of education and student learning. This study aims to report the impact of curriculum changes to the three-month pediatric course curriculum at Shahid Beheshti University of Medical Sciences (SBMU) on the satisfaction levels of medical students. METHODS: One hundred eighteen 4th -5th years medical students, who had completed their pediatric clinical rotation in SBMU-affiliated teaching hospitals including Mofid Children Hospital, Loghman Hakim Hospital, Shohada-e-Tajrish Hospital, and Imam Hossein Hospital from January to December 2022 were included in this cross-sectional study...

Arachnoid cysts are the most common incidentally discovered intracranial lesions on imaging and the most common cystic intracranial lesions. They may be developmental or secondary. A relative lack of recent literature and any comprehensive radiological review on arachnoid cysts has led to a general lack of awareness among radiologists of symptomatic or complicated arachnoid cysts. This is particularly concerning in pediatric patients. While arachnoid cysts are asymptomatic in most cases, they can cause clinical symptoms in a minority of cases, especially when they occur in unusual sites...

The contents of homocysteine (HCy), cyanocobalamin (vitamin B12), folic acid (vitamin B9), and pyridoxine (vitamin B6) were analyzed and the genotypes of the main gene polymorphisms associated with folate metabolism (C677T and A1298C of the MTHFR gene, A2756G of the MTR gene and A66G of the MTRR gene) were determined in children at the onset of multiple sclerosis (MS) (with disease duration of no more than six months), healthy children under 18 years (control group), healthy adults without neurological pathology, adult patients with MS at the onset of disease, and adult patients with long-term MS...

BACKGROUND: Gastric teratoma is an extremely rare tumor, representing <1% of all pediatric teratomas, and commonly manifests as a palpable abdominal mass. Upper gastrointestinal tract bleeding in newborns and infants is rare and is mostly caused by a benign lesion. CASE REPORT: We present a 3-month-old boy who presented with recurrent attacks of hematemesis, vomiting, and melena which on work up revealed a gastric teratoma. DISCUSSION/CONCLUSION: Owing to the unique characteristics and the extreme rarity of this entity, accurate preoperative diagnosis has remained elusive...

BACKGROUND: Pediatric femoral fractures are common in emergency rooms, with treatment options varying by age. This study compares elastic stable intramedullary nailing (ESIN) and plate fixation for diaphyseal femoral fractures in children aged 5-10. MATERIAL AND METHODS: Conducted at Al-Kindi Teaching Hospital, Baghdad, from December 2017 to December 2019, this prospective study included 32 children with closed transverse diaphyseal femoral fractures. Patients were divided into two groups: 16 treated with ESIN (Group 1) and 16 with plate fixation (Group 2)...

Background: Aortopulmonary window (APW) is a rare anomaly with variable morphology and associated cardiac anomalies. We evaluated impact of patient and operative factors on mid-term outcomes following APW repair. Methods: Twenty-nine patients underwent surgical APW repair at our institution from 1996 to 2022. Eight (28%) had simple APW, accompanied by only atrial septal defect or patent ductus arteriosus; 21 (72%) had complex APW with additional cardiovascular lesions, including nine with interrupted aortic arch...

Objective: Hands-on surgical training (HOST) for congenital heart surgery (CHS), utilizing silicone-molded models created from 3D-printing of patients' imaging data, was shown to improve surgical skills. However, the impact of repetition and frequency of repetition in retaining skills has not been previously investigated. We aimed to longitudinally evaluate the outcome for HOST on two example procedures of different technical difficulties with repeated attempts over a 15-week period. Methods: Five CHS trainees were prospectively recruited...

Moyamoya arteriopathy is a condition where chronic, progressive stenosis of large intracranial arteries, primarily of the anterior circulation, results in ischemia and the growth of small, abnormal collateral vessels. There is increasing evidence that infectious pathologies, such as COVID-19, may serve as a sort of trigger, or "second hit," for the development of moyamoya arteriopathy. In this article, we present the case of a 13-year-old female with Down syndrome and unilateral moyamoya arteriopathy who developed contralateral internal carotid artery (ICA) dissection and thrombus in the setting of a positive COVID-19 test and subsequently developed rapidly progressive contralateral ICA and bilateral anterior cerebral artery (ACA) moyamoya-like stenosis...

The phenomenon of green urine discoloration, while rare, represents a captivating clinical puzzle that challenges the distinction between benign and pathological conditions. In this report, we present an intriguing case involving a 15-year-old trauma patient admitted following a motorcycle collision, where the ensuing unconsciousness necessitated propofol induction for intubation and sedation. Remarkably, around 48 hours post-admission, the patient displayed green urine discoloration, which resolved spontaneously within just 12 hours...

An HIV-negative 9-year-old female was admitted to the pediatric ward at a tertiary hospital in Johannesburg, South Africa for investigation of a suspected rheumatic disorder complicated by proteinuria. She was subsequently diagnosed with pediatric systemic lupus erythematosus complicated by class IV lupus nephritis. Further into her admission, the patient developed hospital-acquired SARS-CoV-2 infection with mild clinical symptoms. Three weeks after her initial COVID-19 diagnosis, the patient developed multisystemic inflammatory syndrome...

We report the use of computerized tomography (CT)-guided navigation for complex spinal deformity correction (anterior and posterior) in an 8-year-old patient with neurofibromatosis complicated by dystrophic pedicles, dural ectasia, and extensive vertebral scalloping. A retrospective review was conducted of the patient's medical records for the past 3 years, including the patient's office visit notes, operative reports, pre- and 2-year postoperative imaging studies. The patient successfully underwent anterior lumbar interbody fusion from L3-S1 using CT-guided navigation to negotiate the challenges posed by dural ectasia and vertebral body scalloping...

BACKGROUND: Periventricular pediatric low-grade gliomas (pLGG) present a surgical challenge due to their deep-seated location, accessibility, and relationship with the subcortical network connections. Minimally invasive parafascicular approaches with tubular brain retractors (port brain surgery) have emerged, in recent years, as an alternative to conventional microsurgical and endoscopic approaches for removal of periventricular tumors. OBJECTIVES: To describe the minimally invasive approach with tubular brain retractors for periventricular pLGG, its technique, applications, safety, and efficacy...

BACKGROUND: Myopericytoma is a rare spindle cell tumor of mesenchymal origin, typically benign, characterized by concentric proliferation of tumor cells around blood vessels within subcutaneous tissue. It primarily occurs in middle-aged adults and is often located in distal extremities, although cases have been reported in proximal extremities and head-neck regions. However, occurrences within the oral cavity are exceedingly rare. To date, literature reviews have identified only two cases in children under 10 years old and reported only five cases of myopericytoma occurring in the lip region...

The embryonal central nervous system (CNS) tumor with PLAGL1 (pleomorphic adenoma gene-like) amplification is a novel type of pediatric neoplasm with a distinct methylation profile, described for the first time in 2022. It may be located anywhere in the neuroaxis and, as its name implies, it is driven by the amplification and overexpression of one of the PLAG family genes. Although the associated clinical, immunohistopathological, and molecular characteristics are well characterized in the seminal report of this entity, data on the radiological features is still lacking...

End-tidal capnography can provide useful clinical information displayed on the ventilator screen or bedside monitor. It is important that clinicians can assess and utilise this information to assist in identifying underlying complications and pulmonary pathology. Sudden change or loss of the CO2 waveform can act as a safety measure in alerting clinicians of a dislodged or blocked endotracheal tube, considering the concurrent flow and volume waveforms. Visual pattern recognition by the clinicians of commonly seen waveform traces may act as an adjunct to other modes of ventilatory monitoring techniques...

Pediatric acute liver failure (PALF) is a severe liver dysfunction with complex pathological mechanisms and rapid development. MiRNAs have been identified as promising biomarkers for human disease screening and monitoring. This study focused on evaluating the clinical significance of miR-224-5p in PALF and revealing its potential molecular mechanism in regulating liver cell injury. This study enrolled 103 children with PALF and 55 healthy children without liver diseases. Serum miR-224-5p levels were compared between the two groups, and their clinical significance was estimated by analyzing the correlation with clinicopathological features and outcomes of PALF children...

We performed a method comparison between the Fujirebio® Lumipulse G AMH assay and the Roche® Elecsys AMH assay using the same pediatric samples. We described full pediatric gender and age-specific reference ranges for AMH using the Fujirebio® AMH assay on the Lumipulse G 600 II. The study was performed on 281 plasma samples collected in tubes with lithium heparin. The samples were from patients (135 males and 146 females) aged from 3 days to 22 years collected at the University Hospital Center of Tours...