RESUMEN
SARS-CoV-2 is a novel coronavirus that has rarely been associated with chylothorax. Patients with Noonan syndrome are at risk for developing chylothorax, especially after cardiothoracic interventions. We present the case of SARS-CoV-2 infection triggering the underlying tendency of a patient with Noonan syndrome to develop chylothorax who did not develop it even after prior cardiothoracic interventions. Patient presented in respiratory distress without hypoxia and was found, on imaging, to have a large right-sided pleural effusion, which was eventually classified as chylothorax. The patient was then started on a low-fat diet. Chest tube drainage substantially reduced the effusion in size, and it remained stable. Our report highlights that SARS-CoV-2 infection can cause the development of a chylothorax or a chylous effusion in patients with Noonan syndrome or among populations with a similar predisposition. A high index of suspicion in vulnerable patients or those not responding to traditional therapy should exist with providers, thus leading to the testing of the fluid to confirm the diagnosis.
Asunto(s)
COVID-19 , Quilotórax , Síndrome de Noonan , Derrame Pleural , Humanos , Quilotórax/diagnóstico , Quilotórax/etiología , Quilotórax/terapia , Síndrome de Noonan/complicaciones , Síndrome de Noonan/diagnóstico , COVID-19/complicaciones , SARS-CoV-2 , Derrame Pleural/etiología , Derrame Pleural/diagnóstico , Derrame Pleural/terapiaRESUMEN
BACKGROUND: Fontan-associated liver disease (FALD) refers to structural and functional changes of the liver caused by the physiology of the Fontan palliation. Currently, liver biopsy is the gold standard to assess liver fibrosis of FALD. AIM: Investigate biomarkers correlating with severity of liver biopsy fibrosis in FALD. METHODS: A retrospective study of post-Fontan patients ≥ 10 years of age who underwent liver biopsy was conducted. Advanced liver disease (ALD) was defined as bridging fibrosis and/or cirrhosis on liver biopsy. AST-to-platelet ratio index (APRI), Fibrosis-4 (FIB-4) and Liver Stiffness Measurement (LSM) from FibroScan were used as non-invasive fibrosis scores. RESULTS: Sixty-six patients (26/47; 55.3% adults and 13/19 children; 68.4%) had ALD on biopsy. ALD was associated with lower platelet count (151 vs. 198 K/uL, p = 0.003), higher APRI (0.64 vs. 0.32, p = 0.01), higher FIB-4 (0.64 vs. 0.32, p = 0.02). Liver fibrosis score correlated with APRI (0.34, p = 0.02) and FIB-4 (0.47, p = 0.001) in adults. LSM had a high sensitivity at 81.3% with 45.5% specificity at a cut-off 18.5 kPa. CONCLUSIONS: APRI and FIB-4 had modest discrimination to identify adults with advanced liver disease, but not children, indicating that these values may be followed as a marker of FALD progression in older patients.
Asunto(s)
Biomarcadores , Diagnóstico por Imagen de Elasticidad , Procedimiento de Fontan , Hipertensión Portal , Cirrosis Hepática , Hígado , Humanos , Masculino , Hipertensión Portal/etiología , Hipertensión Portal/sangre , Femenino , Estudios Retrospectivos , Cirrosis Hepática/etiología , Cirrosis Hepática/sangre , Cirrosis Hepática/patología , Adulto , Biomarcadores/sangre , Niño , Procedimiento de Fontan/efectos adversos , Adolescente , Recuento de Plaquetas , Adulto Joven , Hígado/patología , Hígado/diagnóstico por imagen , Biopsia , Índice de Severidad de la Enfermedad , Aspartato Aminotransferasas/sangre , Persona de Mediana EdadRESUMEN
Neonatal germ cell tumors are rare and comprise both benign and malignant neoplasms. Teratoma with nephroblastoma is a malignant subset defined pathologically by the presence of nephroblastoma and teratoma elements. Although teratoma with nephroblastoma is most often found in the kidney, 24 of 59 reported cases are associated with extrarenal locations, such as the mediastinum or retroperitoneum. To our knowledge, this is the first patient in the literature with intracranial/pineal teratoma with nephroblastoma, which was managed with staged transcranial approaches resulting in gross total resection and no adjuvant therapy (surveillance observation imaging). We further augmented the patient's management by comprehensive genomic profiling of the tumor to better understand the molecular biology and explore options for targeted therapy.