ABSTRACT
Duplication 20p or partial trisomy 20 is a rare chromosomal anomaly characterized by duplication of the short arm of chromosome 20, with various clinical abnormalities. Despite complete trisomy 20, which usually leads to prenatal death, partial trisomy 20 can manifest with variable phenotypes, from mild to severe manifestations. Here, we present a rare case of an 8-year-old boy diagnosed with trisomy 20, epilepsy with focal seizures of genetic origin, craniosynostosis, type 1 diabetes, and autism spectrum disorder. Duplication 20p is a complex diagnostic and presents a therapeutic challenge due to its diverse clinical manifestations. To succeed in the intricacy of such a unique and challenging case, a comprehensive clinical and genetic assessment must be performed.
ABSTRACT
Solitary extranevraxial plasmacytoma (SEP), as a clinical entity without signs of systemic myelomatosis, is extremely rare; it is difficult to find literature on the issue of patient management and proper course of action in the presence of associated pathology. The authors present a rare case of plasmacytoma of the skull vault associated with severe cardiac pathology, which made surgery extremely difficult and possible only through temporization of the interventions, as presented. We discuss our findings and opportunities for treatment in this case, which seemed unapproachable at presentation, in connection with the associated cardiac pathology. The case was followed-up for eight years with no recurrences.
