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Cureus
December 2024
General and Family Medicine, Câmara de Lobos Health Center, Serviço de Saúde da Região Autónoma da Madeira, Entidade Pública Empresarial da Região Autónoma da Madeira (SESARAM, EPERAM), Câmara de Lobos, PRT.
Immune thrombocytopenic purpura (ITP) is an autoimmune condition characterized by a reduced platelet count due to enhanced peripheral destruction and impaired platelet production. While thrombocytopenia is a well-documented complication of various viral infections, cytomegalovirus (CMV), a member of the Herpesviridae family, is primarily associated with infections in immunocompromised patients and is rarely implicated in causing severe thrombocytopenia in immunocompetent patients. This article aims to highlight the importance of considering CMV as a significant etiological factor in ITP, particularly in cases of asymptomatic thrombocytopenia.
View Article and Find Full Text PDFCureus
December 2024
Pediatrics, Unidade Local de Saúde do Algarve-Hospital de Faro, Faro, PRT.
A female adolescent with no relevant past history was admitted to the Pediatric Emergency Department with two episodes of seizures without trauma, fever, or other symptoms. Head-MRI revealed bilateral subependymal nodular irregularities lining the lateral ventricles, with similar signal evolution to grey matter, confirming the diagnosis of periventricular nodular heterotopias (PVNH). Genetic testing revealed a Filamin A ( variant; family studies were negative.
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December 2024
Obstetrics and Gynecology, Latifa Hospital, Dubai, ARE.
Glanzmann thrombasthenia (GT) is an autosomal recessive platelet functional bleeding disorder caused by mutations in the ITGA2B or ITGB3 genes, often presenting as mucocutaneous bleeding. GT typically presents in infancy, but this study reports a rare case of neonatal presentation in a female infant born to consanguineous parents. The mother, a 27-year-old woman with a family history of GT, presented at 36 weeks gestation for an elective cesarean due to a breech presentation.
View Article and Find Full Text PDFFront Pediatr
December 2024
Department of Ultrasound, Jinan Maternity and Child Care Hospital, Jinan, Shandong, China.
Congenital melanocytic nevus (CMN) syndrome is a rare, non-familial neural ectodermal dysplasia characterized by CMN combined with extracutaneous abnormalities, predominantly involving the central nervous system (CNS). The pathogenesis of CMN syndrome is thought to result from early post-zygotic somatic mutations. CNS melanosis frequently affects the anterior temporal lobes, brainstem, cerebellum, and cerebral cortex.
View Article and Find Full Text PDFJ Otol
October 2024
Department of Otolaryngology-Head and Neck Surgery, University of Colorado School of Medicine, Aurora, CO, USA.
Objective: To better understand the clinical phenotype of Ménière's disease (MD), we examined family history, thyroid disorder, migraine, and associated disorders in complaints of people living with MD.
Method: We designed the study as a retrospective and examined data gathered from 912 participants with MD. Their data were originally collected by the Finnish Ménière Federation (FMF).
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