குழந்தை நரம்பியல் மற்றும் மருத்துவ இதழ்

Pediatric Meet And Fetal Medicine 2019: A case study patient with the neuronal ceroid lipofuscinoses - Bahytzhan Orazaliev - Karaganda Medical University

Abstract

Bahytzhan Orazaliev

The Neuronal Ceroid Lipofuscinoses (NCLs) are a gathering of related innate neurodegenerative issues that happen at a recurrence of somewhere in the range of 2 and 4 of every 100,000 live births. There is no compelling treatment for NCL and all youth structures are at last lethal. A few types of NCL are separated by period of beginning, pathology, and hereditary linkage. The point of this examination was to portray the clinical and electroencephalographic discoveries of kids with neuronal ceroid lipofuscinoses, individually. As the illness advanced, he created reformist vision misfortune, walk ataxia, activity myoclonus, and epilepsy. Electroencephalogram uncovered summed up sharp and moderate wave releases with foundation easing back. Attractive reverberation imaging of the cerebrum uncovered diffuse cerebral and cerebellar decay extraordinarily influencing the cerebellum alongside periventricular T2 hyperintensities. Skin biopsy from axilla uncovered trademark intracytoplasmic eosinophilic considerations and occasional corrosive Schiff positive bodies inside the eccrine conduits reminiscent of NCL