Developmental and epileptic encephalopathy-9 (DEE9) is characterized by seizure onset in infancy, mild to severe intellectual impairment, and psychiatric features and is caused by a mutation in the gene on chromosome Xq22. The rare, unusual X-linked type of disorder affects heterozygous females and mosaic males; transmitting males are unaffected. In our study, 165 patients with epilepsy were tested by Next Generation Sequencing (NGS)-based panel and exome sequencing using Illumina technology.
View Article and Find Full Text PDFTuberous sclerosis complex (TSC) is a multisystem disorder characterized by seizures, neuropsychiatric disorders, and tumors of the heart, brain, skin, lungs, and kidneys. We present a three-year follow-up of a patient with TSC-associated rhabdomyoma detected in utero. Genetic examination of the fetus and the parents revealed a de novo variant in the gene (c.
View Article and Find Full Text PDFBackground And Purpose: Over the past year, many cases with newly onset or significantly exacerbated tic disorders were observed worldwide, where some aspects of the clinical presentation or the symptomatology were atypical for established tic diagnoses. Our purpose was to describe the atypical cases and raise relevant diagnostic issues.
Methods: Consecutive cases with atypical tic presentations were documented.
Tuberous sclerosis complex (TSC) is an autosomal dominant disease due to the uncontrolled differentiation, proliferation, and migration of cells in several organs. Clinical expression is highly variable, from mild skin findings and asymptomatic brain lesions to seizures, mental retardation, autism, and potentially fatal kidney, cardiac, or pulmonary disease. Aim of this paper is to summarize the diagnostic criteria, surveillance and therapeutic issues of this multisystemic disorder emphasizing the most important neurological consequences.
View Article and Find Full Text PDFBiochim Biophys Acta
September 2016
Calcification of the human lens has been described in senile cataracts and in young patients with congenital cataract or chronic uveitis. Lens calcification is also a major complication of cataract surgery and plays a role in the opacification of intraocular lenses. A cell-mediated process has been suggested in the background of lens calcification, but so far the exact mechanism remained unexplored.
View Article and Find Full Text PDFAs the outcome of childhood cancer improved substantially during the last 3 decades, the attitude of pediatric oncology has changed from "cure at any cost" to "cure at least cost". We investigated factors affecting quality of life in long-term survivors of childhood cancer in the in- and outpatient clinics of the Department of Pediatric Hematology-oncology, Institute of Pediatrics, Medical and Health Science Center, Debrecen. As a part of a comprehensive follow-up care program, we focused our attention on nephrotoxicity, osteoporosis and on cardiovascular morbidity.
View Article and Find Full Text PDF