DIFFICULTIES IN DIAGNOSING HEREDITARY NEURODEGENERATIVE DISEASE IN A CHILD
Аннотация
Summary. Neurodegenerative diseases represent a wide range of diseases of different nature, caused by the gradual death of individual groups of nerve cells and characterized by steadily progressive neurological deficits, including motor disorders, psychoemotional and cognitive (up to dementia) disorders and epileptic seizures. The most common neurodegenerative pathology in children is neuronal ceroid lipofuscinosis. The article describes data on the prevalence, features of the therapy of this pathology, and also presents a clinical case with the onset of the disease in a child aged 2 years 11 months. The clinical case demonstrates the difficulties of diagnosing this pathology due to the rarity of this pathology, a wide range of differential diagnostics, the duration and high cost of molecular genetic studies. An early examination would make it possible to explain the nature of epilepsy, to choose a rational therapy for this disease in a timely manner.
Ключові слова:
neuronal ceroid lipofuscinosis, child, epilepsy.Посилання
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