Primary cerebral malignant melanoma in insular region with extracranial metastasis: case report and review literature.

BACKGROUND: Primary 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 PRESENTATION: The 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. CONCLUSIONS: Although 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.

Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital.

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.

[Complications and outcomes in the elderly with intracranial meningioma]. / Complicaciones y pronóstico de pacientes ancianos diagnosticados de meningioma intracraneal.

OBJECT: Surgical treatment in patients older than 70 years old with intracranial meningioma is still subject to controversy. The benefit/risk ratio of this surgery has not been assessed due to the lack of objective criteria. The aim of this study is to assess the surgical complications and outcomes in elderly patients in our centre. METHOD: A retrospective analysis was performed on patients with intracranial meningioma between January 2010 and March 2014. The incidence of post-surgical complications, as well as their associated risk factors, was also analysed. Functional outcomes were compared with Glasgow Outcome Scale and Karnofsky index with those who underwent surgery and those with conservative management. Finally, a comparison was made between patients younger than 70 years old operated on for intracranial meningioma. RESULTS: A total of 48 patients diagnosed with intracranial meningioma older than 70 years old, of which 37 were operated on and 11 were followed up with conservative management. There were no differences between the groups in neurological status at discharge (Glasgow Outcome Scale 5 67.6 vs. 72.2%, respectively). No differences were observed in functional outcome during 6 months of follow up in the Karnofsky index between surgical and non-surgical patients (P=.486). In the comparison between older and younger than 70 years old, there were no differences in the incidence of surgical complications (P=.64 in early complications and P=.23 in late complications). CONCLUSION: The results of the present study suggest that age should not be a limitation in surgical indications in patients older than 70 years old with intracranial meningioma. No statistical differences were found in functional status compared with conservative management or in surgical complications between younger and elderly patients.