Background: Gestational choriocarcinoma is a highly aggressive trophoblastic neoplasm. Historically, the presence of chorionic villi was considered discordant with the diagnosis of choriocarcinoma. We report a case of early gestational choriocarcinoma arising in a post-molar setting with residual chorionic villi, creating a diagnostic pitfall. Case report: a 51-year-old woman with a prior complete hydatidiform mole showed plateauing beta-human chorionic gonadotropin (ss-hCG) levels. She underwent total laparoscopic hysterectomy. Histologic examination of the uterine mass revealed a malignant biphasic-to-triphasic trophoblastic proliferation with marked atypia, brisk mitotic activity, extensive hemorrhage, and necrosis, situated immediately adjacent to a single residual molar villus. Immunohistochemistry showed strong beta-human chorionic gonadotropin expression in syncytiotrophoblasts, a elevated Ki-67 index (similar to 80%), focal human placental lactogen (hpL) expression, and absence of p63 staining, confirming choriocarcinoma and excluding other trophoblastic tumors. Conclusion: this case demonstrates that the presence of chorionic villi does not exclude a diagnosis of choriocarcinoma and underscores the necessity of rigorous clinicopathologic correlation.
BACKGROUND:Mitochondrial Contact Site and Cristae Organizing System (MICOS13)- related combined oxidative phosphorylation deficiency 37 is a rare autosomal recessive disorder caused by disruption of mitochondrial structure and function, leading to early-onset multisystem disease. Case report: A genetically confirmed case is described in a 5-month-old female infant born to consanguineous Iraqi parents, presenting with hypotonia, developmental delay, feeding difficulties, laryngomalacia, and recurrent cyanotic episodes. Clinical findings included diminished reflexes and a small atrial septal defect, while laboratory tests revealed hypoalbuminaemia and mild coagulopathy. Whole-exome sequencing identified a homozygous MICOS13 splice-site variant (c.260-2A >G). Despite supportive care, progressive respiratory failure developed, resulting in death at 5months. Review of 13 reported cases demonstrates consistent early onset, universal hepatic and neurological involvement, frequent respiratory compromise, and, among reported cases, uniformly fatal outcomes. Most identified variants are loss-of-function, predominantly frameshift, with no missense variants reported to date. CONCLUSION:The present report adds a genetically confirmed case and reinforces the value of considering MICOS13 deficiency in consanguineous infants with early encephalopathy and hepatic dysfunction.
Background: Hybrid benign peripheral nerve sheath tumors (BPNSTs) combine schwannomatous, neurofibromatous, and/or perineuriomatous components and are frequently associated with NF2-related schwannomatosis. Pediatric cases at retrovesical sites have not previously been reported. Case report: A 12-year-old boy presented with one-year voiding difficulty. Pelvic magnetic resonance imaging showed an indeterminate 27 × 33 mm retrovesical lesion in the seminal vesicle region. Laparoscopic excision yielded a solid mass composed of distinct schwannomatous and neurofibromatous components. The schwannomatous areas were strongly S-100 positive and CD34 negative, whereas the neurofibromatous areas showed patchy S-100 and diffuse CD34 positivity; factor XIIIa was more extensive in the neurofibromatous component. Ki-67 was 3%, without necrosis or mitoses. Multiplex ligation-dependent probe amplification identified a heterozygous germline NF2 deletion (upstream-exon 9). At 6 months, the patient was symptom-free without recurrence. Conclusion: Hybrid BPNST should be considered in pediatric indeterminate retrovesical masses; integrated histopathologic, immunohistochemical, and molecular analysis-including germline NF2-guides diagnosis and long-term surveillance.
BACKGROUND:Ectopic pregnancy is a major cause of first-trimester maternal morbidity and mortality, with diagnosis and management posing persistent clinical challenges. This review evaluates the emerging role of artificial intelligence, machine learning, and multi-omics technologies in enhancing diagnosis, treatment prediction, biomarker discovery, and surgical care. MATERIALS AND METHODS:A synthesis of 52 studies (1988-2026) was conducted, assessing machine learning algorithms, proteomic and metabolomic panels, multi-omics integrations, and robotic-assisted surgical outcomes using performance metrics including AUC, sensitivity, and specificity. RESULTS:Machine learning models achieved AUC values up to 0.929 for methotrexate failure prediction and surgical accuracies exceeding 98%. Biomarker panels combining sphingolipids and carnitines demonstrated 100% sensitivity and 95.9% specificity. Multi-omics uncovered GATA4-mediated ITGB3 dysregulation in cesarean scar pregnancy. Robotic-assisted techniques yielded cumulative pregnancy rates over 60% post-reanastomosis. CONCLUSION(S):AI and multi-omics integration offer significant promise for personalized ectopic pregnancy management. However, retrospective designs and small sample sizes limit generalizability, underscoring the need for prospective multicenter validation before routine clinical adoption.
Background: Acute myocardial infarction (MI) is an uncommon finding in the neonatal period, as well as in cases of hypoxic-ischemic encephalopathy (HIE). Case report: We report the case of a full-term newborn with HIE who developed extensive myocardial infarction secondary to perinatal asphyxia, accompanied by progressive neurological deterioration. Despite early initiation of therapeutic hypothermia (TH) and intensive supportive care, the infant developed refractory cardiogenic shock, rapid neurological decline, and died within the first hours of life. Postmortem examination revealed widespread subendocardial infarction affecting both ventricles, with structurally normal heart and coronary arteries. Conclusions: This case underscores the critical role of cardiovascular dysfunction in the pathogenesis of brain injury in neonates with HIE. Early interpretation of multimodal monitoring and timely detection and management of myocardial dysfunction may be essential to reduce secondary brain injury and improve outcomes in this high-risk population.
