ABSTRACT
Inherited muscular abnormalities are debilitating disorders that greatly diminish the quality of life in affected individuals. Mutations in proteins such as dystrophin and caveolin, which together with other proteins form structural connections between the cytoskeleton and the extracellular matrix, are frequently the culprit of muscular dystrophies. In this case report, we describe a patient with a novel pathogenic dystrophin mutation co-existing with a caveolin-3 deletion. While genetically composed of this unique combination, the patient phenotypically presented with a primary clinical manifestation of Duchenne muscular dystrophy (DMD) in contrast to other cases of dual mutations in dystrophin and dystrophin-associated proteins.
ABSTRACT
PURPOSE OF REVIEW: Central nervous system (CNS) lymphomas (CNSLs) have varied clinical presentations which can mimic neuroinflammatory disease, leading to a diagnostic dilemma for clinicians. RECENT FINDINGS: This report describes two patients who initially received a diagnosis of neuroinflammatory disorders but were refractory to treatment over a protracted time course. In both cases, biopsy revealed diffuse large B cell lymphoma (DLBCL) as the final diagnosis. SUMMARY: The analysis of these cases provides an opportunity for increased recognition of CNS lymphomas for earlier diagnosis and treatment. It also calls for increased clinical suspicion for CNSLs in such circumstances. And possibly the search for new biomarker development for identifying and tracking CNSLs.
