| Abstract [eng] |
Aim. The aim of this descriptive study is to provide information about a little-known disorder that has a disease modifying therapy option, which, if started in time, can prolong the duration of good-quality life for the patient. This study will reveal the most common initial clinical symptoms, disease progression characteristics, and treatment methods. Case report. A 5-year-old girl has been under observation since the age of 2 years and 10 months due to a rare genetic disorder. Over two years ago, the patient started experiencing a disruption in cognitive and speech development, accompanied by ataxia. She also had several focal motor seizures with impaired perception. Upon detecting changes in alert-state and sleep electroencephalograms, antiepileptic drugs were prescribed. A magnetic resonance imaging of the brain revealed cerebellar atrophy. After testing for genetic epilepsies, the diagnosis of type 2 neuronal ceroid lipofuscinosis was made. Although the diagnosis was timely, and the disease could have been treated with enzyme replacement therapy, the cost for medication was not covered. As a result of absent treatment, there is a notable regression in motor, cognitive and language functions, as well as recurring focal motor seizures and generalized epilepsy seizures (myoclonic, myoclonic-astatic) that are resistant to antiepileptic drugs. Discussion. This paper examines the clinical symptoms of the disease, their progression, and the pathology found during instrumental examinations. Possible treatment options, including enzyme replacement therapy and other methods, are described. Conclusions. Neuronal ceroid lipofuscinosis type 2 should be suspected in children between 24 and 48 months of age if there is delayed speech and cognitive development, onset of epileptic seizures, ataxia, regression of previously aquired skills, and progressive visual impairment. Diagnostic suspicion can be supported by instrument-based tests such as an electroencephalogram, which may show a photoparoxysmal response to low frequencies, and magnetic resonance imaging, which may show progressive atrophy in various regions of the brain, especially the cerebellum and cerebral cortex. The earlier the treatment with enzyme replacement therapy is initiated, the better the outcomes. |
