BackgroundPrimary brain melanomas are very infrequent and metastasis outside central nervous system very uncommon. There are some cases in the literature about primary melanoma in the temporal lobe; nevertheless, the insular location has never been described.Case presentationThe patient presented as left insular intraparenchymal hematoma with multiple bleedings. Complementary tests did not show any tumoral nor vascular pattern in relation with these bleedings. A complete surgical resection was performed, and the diagnosis of malignant melanoma, with BRAF mutation, was obtained after histology exam. Extension studies were negative for skin or mucous melanoma. 18F-FDG PET/CT was performed and a metastatic lymph node was found. The diagnosis was primary brain melanoma with extracerebral metastasis. Dabrafenib 150 mg/12 h was the only chemotherapy during 5 months. After that, Trametinib 2 mg/24 h was added to the treatment. Eighteen months after surgery, the patient is independent, with stable situation, and without new metastasis.ConclusionsAlthough malignant melanomas have poor prognosis, total surgical resection and new therapies are increasing the overall survival and improving quality of life. In a patient with suspected brain melanoma, in spite of having extracerebral metastasis, aggressive treatment may be considered.
Introduction Sleep-related hypermotor epilepsy (SHE) is characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep. Experts agree that SHE should be considered a unique syndrome. PURPOSE We present 8 cases of SHE for which a genetic diagnosis was carried out using a multigene epilepsy panel. Methods We retrospectively screened familial and isolated cases of SHE in current follow-ups in our center. Results We included 8 (5F/3M) patients, 5 of whom had a positive familial history of epilepsy. We identified a pathogenic mutation in CHRNA4, CHRNB2, and 3 different pathogenic changes in DEPDC5. Conclusions Awareness of SHE needs to be raised, given its implications for finding an appropriate treatment, its relationship to cognitive and psychiatric comorbidities, and the opportunity to prevent the disorder in the descendants. We present our series with their clinical, radiological, electroencephalographic, and genetic characteristics, in which we found 3 pathogenic mutations in the DEPDC5 gene but not previously reported in the literature. Identifying new pathogenic mutations or new genes responsible for SHE will facilitate a better understanding of the disease and a correct genetic counseling.
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