Fabry disease is a serious degenerative hereditary disorder, which is referred to as a lysosomal storage disease and is a form of sphingolipidosis. Fabry disease often starts in childhood and adolescence, although the complete clinical manifestation occurs in adulthood. Early diagnostic is often difficult due to polymorphic clinical picture, untypical initial symptoms and doctors’ low level of awareness. Fabry disease patients should undergo a special kind of pathogenetic enzyme replacement therapy. Timely diagnosis and prompt treatment can prolong life expectancy and improve life quality.

Hydrocephalus, or hydrocephaly, is one of the most important problems of pediatric neurology and neurosurgery. The incidence of this form of cerebral pathology is from 0.28 to 3.0 per 1000 neonates, and it increases up to 1% by one year of age. The high percentage of congenital HDC in the structure of morbidity and mortality of children requires a special attention to its clinical and instrumental diagnostics. The article presents the basic and supplementary methods of instrumental diagnostics of hydrocephalus in children. Qualitative and quantitative diagnostic criteria of different forms of hydrocephalus based on the findings of neurovisualizing methods of investigation are discussed.

The authors report herein a clinical case of a two-year-old boy suffering from a rare genetic disease Edward's syndrome, discussing the prevalence of the syndrome, separate genetic and clinical aspects of the disease, as well as prognosis for life.