Patients with tuberous sclerosis complex present with cognitive, behavioral, and psychiatric impairments, such as intellectual disabilities, autism spectrum disorders, and drug-resistant epilepsy. It has been shown that these disorders are associated with the presence of cortical tubers. Tuberous sclerosis complex results from inactivating mutations in the TSC1 or TSC2 genes, resulting in hyperactivation of the mTOR signaling pathway, which regulates cell growth, proliferation, survival, and autophagy. TSC1 and TSC2 are classified as tumor suppressor genes and function according to Knudson’s two-hit hypothesis, which requires both alleles to be damaged for tumor formation. However, a second-hit mutation is a rare event in cortical tubers. This suggests that the molecular mechanism of cortical tuber formation may be more complicated and requires further research. This review highlights the issues of molecular genetics and genotype–phenotype correlations, considers histopathological characteristics and the mechanism of morphogenesis of cortical tubers, and also presents data on the relationship between these formations and the development of neurological manifestations, as well as treatment options.
A primary abscess in the region of the Sella turcica is a rare neurosurgical pathology especially in the pediatric population. This pathology has no specific symptoms and may have an atypical presentation. It has no specific radiological features making diagnosis very difficult. In this article, we report on a 13-year-old girl with a confirmed primary pituitary abscess. Clinical and instrumental investigations as well as hormonal profile indicated a lesion of the Rathkes pouch- like a craniopharyngioma and to a lesser extent, a pituitary adenoma. In this case, laboratory and Magnetic resonance studies did not show any features of systemic or local acute inflammatory response respectively. The child underwent a surgery, during which the diagnosis was made — primary abscess of the pituitary gland.
Recently, in the scientist community of specialists dealing with structural epilepsy, it has been noticed an increasing interest in a special form of cortical development disorder not to be included in the ILAE Classification of the epilepsies the 2017 revision. It is so-called mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). There are a number of publications devoted to the neuroimaging features of MOGHE, which are possible to distinguish from other epileptogenic substrates in comparisons with clinical/anamnestic data and dynamic observation. Our paper describes the case of a patient under 6 years suffering from pharmacoresistant epilepsy with histologically confirmed MOGHE, and having undergone the procedure of epileptic surgery. MRI showed an increased intensity of the T2/FLAIR signal from the white matter in combination with signs of laminar hyperintensivity, regional sulcation disturbance, smoothness of gray-white matter demarcation in the right frontal lobe. A signal intensification from the white matter with the formation similarity of the «transmantl» sign and further pronounced smoothness of the gray-white matter demarcation was observed on dynamic MRI. These changes were estimated as focal cortical dysplasia. Pre-surgical examination revealed a correlation of epileptiform activity with MRI changes. The subtotal resection of the right frontal lobe and the morphological conclusion established the presence of MOGHE was performed.
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