Intracranial Lipoma and Epilepsy: A Case Report

Intracranial lipomas, which are in congenital lesions of central nevre system, are seen rarely. They are located mostly in the middle line, especially in corpus callosum. They are generally asymptomatic and are detected in radiological examinations or during autopsy. Headache, epileptic seizure, psychomotor disorders, cranial nerve paralysis are observed. In symptomatic intracranial lipomas, intracranial lipomas rarely show the need for surgical treatment. Surgery should be avoided in the treatment of intracranial lipomas. In addition to cases in which unwanted complications indicating more severe clinical signs developed, fatal cases have also been reported after surgery. For patients with intracranial lipoma, anti-epileptic treatments should be recommended. Here, the case of a patient who applied to our clinic with complaints of syncope and seizures, and who was detected to have a case of intracranial lipoma as a result of the tests are discusse

Retroperitoneal Malignant Peripheral Nerve Sheath Tumour: A Rare Case Report

Malignant nerve sheath tumours (MPNST) are rare neoplasias and retroperitoneal cases are fairly rare and clinically difficult to be detected, but they are very agressive neoplasias. MPNST are frequently seen in head, neck and upper extremities. In patients with NF1; MPNST, a poor-prognostic lesion, may result from a malignant degeneration of a former plexiform neurofibroma. It is necessary to be aware of a potential malignancy in patients diagnosed with plexiform neurofibroma

Intramedullary schwannoma of conus medullaris with syringomyelia

Intramedullary schwannomas of the spinal cord are rare tumors. They are most commonly observed in the cervical region; however, few have been described in the conus medullaris. The association of intramedullary schwannomas with syringomyelia is also rare. In this report, we present a case of intramedullary schwannoma of the conus medullaris with syringomyelia, which was treated surgically

The Relation Between Surgically Treated Spontaneous Intracerebral Hematomas and Mortality: Retrospective Evaluation of 72 Cases

OBJECTIVE: In this study we investigated the relationship between mortality and factors in the surgical treatment of spontaneous intracerebral hematoma in cases presented to our clinic. METHODS: 72 cases of spontaneous intracerebral hemorrhage with non-traumatic intracerebral hemorrhage presented between the years 1997-2009 which underwent surgical treatment were evaluated retrospectively. RESULTS: Among the 72 cases, 41 (57%) were males, and 31 (43%) were females. The etiology in 52 (72%) of the cases was hypertension. Regarding the location of the hematoma, 27 (37%) of the cases were lobar, 30 cases (41%) were thalamic, 13 (18%) were cerebellar and 2 cases (4%) were in the putaminal location. The mortality rate in cases that received surgery within the first 8 hours was 41% (18 cases), and the rate was 61% (14 cases) in patients that received surgery between 8-24 hours. If the surgery was received between 24-48 hours following the initial hematoma, the mortality rate was 80% (4 cases). CONCLUSION: In spontaneous intracerebral hematoma cases, surgical treatment that is performed following consideration of the initial neurological examination, age, volume of hematoma, its localization, and time until surgery reduces the mortality. Clinically, there is no advantage of surgical treatment over the medical treatment in cases with poor neurological grad

Intramedullary schwannoma of conus medullaris with syringomyelia

Intramedullary schwannomas of the spinal cord are rare tumors. They are most commonly observed in the cervical region, however, few have been described in the conus medullaris. The association of intramedullary schwannomas with syringomyelia is also rare. In this report, we present a case of intramedullary schwannoma of the conus medullaris with syringomyelia, which was treated surgically

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye

Background: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. Methods: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Türkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. Results: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. Conclusions: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower