Prader-Willi syndrome - case report and literature review

Abstract

Prader-Willi syndrome is a consequence of several genetic defects in the 15q11-q13 region, including methylation changes, and is associated in newborns with hypotonia, poor suck, a reduced growth velocity, and developmental delay. We present the case of a newborn with severe hypotonia delivered via caesarean surgery at full term in the "Elias" University Emergency Hospital. Although the newborn had normal respiratory and cardiovascular parameters, the clinical examination had revealed hypotonia, lethargy and hypogonadism. The risk factors are unknown for this particularly case, as there was no additional risk identified prenatally. The particularity of this case is that the newborn had since birth very severe hypotonia and poor suck. Retroviral infections have been an important cause of preoccupation of research and medical systems in the past decades. The discovery of human immunodeficiency virus (HIV) as the etivological factor of acquired immunodeficiency syndrome (AIDS) marked a turning point in the conceptual framework and medical management. Retrospective diagnosis has permitted the discovery of infections after 20-30 years from the date of death. "The transmission" chains are still undefined and are still under study. Given that, the "United Nations HIV/AIDS (UNAIDS)" targets for 2020 and 2030 are ambitious. To reach these goals, in spite of the overwhelming material costs to healthcare and socio-medical systems, and different kinds of "psychological pressure", attention and support to combat HIV/AIDS infection need to remain a first-line problem for governments and contemporary society. We propose a review of the defining moments in the natural history and their impact on the global medical systems of HIV/AIDS in the 1981-1990 period and to underline the most important information up to 2017 in our country.