Limb-girdle muscular dystrophies (LGMDs) comprise a phenotypical spectrum of muscular dystrophies with a high degree of genotypical variability. We describe the case of a 56-year-old male with a history and clinical picture sugestive for LGMD with skeletal and cardiologic involvement. Histopathological examination shows a severe dystrophic picture and geneting testing revealed a unique never reported genotype association: a homozygous variant in the DES gene, associated with myofibrillar myopathy type 1 and LGMD2R, as well as a heterozygous variant in the CRYAB gene, associated with myofibrillar myopathy type 2, both of which could be responsible for the clinical picture.
Introduction. Diagnostic and therapeutic approach of multiple cerebral lesions is often challenging. Case report. A 66-year-old man with unremarkable medical history was admitted to our hospital for recent inability and stereotyped movements of the left upper limb. Brain MRI identified eight tumoral masses with contrast enhancement and marked SWI signal loss that displayed increased metabolic activity on 18F-FDG PET/CT scan. Cerebral biopsy led to the diagnosis of melanoma with BRAF V600E mutation. Stereotactic radiosurgery and molecular therapy were planned afterwards. Conclusion. Brain MRI is an useful tool in guiding diagnosis of cerebral metastases of unknown origin.
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