| Abstract [eng] |
Congenital disorders of glysocylation are a group of rare hereditary diseases that affect glycosylation processes. Clinically it can manifest with any organ system‘s damage (coagulation, immune and digestive systems‘ pathologies are usually described). However, impairments in nervous system are seen nearly in every case with just few exceptions. Psychomotor development delay, intellectual disability, hypotonia and seizures are seen most often. Type 1 congenital disorder of glycosylation often presents with a treatment resistant epilepsy. Epilepsy is considered treatment resistant when it remains intractable despite administration of two antiepileptic drugs in monotherapy or combination. This pathology is illustrated by a case of a female patient who developed seizures first time when she was 13 months old. Except the confirmed diagnosis of epilepsy she was also diagnosed with different comorbidities. It took more than one year from the onset of epilepsy to establish the ethiology of epilepsy in the centre of genetics. Two medications against epilepsy were prescribed and their dosage was revised carefully before the condition was managed in a couple of years and the treatment was discontinued. However, there are still rising questions about the remaining disorders‘ ethiology and management. Congenital disorders of glycosylation diagnostics relies on genetic testing. These disorders are mostly incurable despite some of them can be treated with targeted simple sugar therapy. The prognosis as well as life expectancy depends on severity of a particular case and may vary from neonatal death to asymptomic condition in adulthood. Though most of those who suffer from this pathology pass away in the first year of life. |
