ESPE Abstracts

We present two cases in which we would like to point out the similarity of the clinical manifestation of the rare syndromes and the need for rigorous genetic analysis in detecting the origin of the disease. First patient is 2 years old boy examined due to severe muscle hypotonia, psychomotor delay and severe growth retardation (SDS of height -2,6). He was born as small for gestational age. Hypopituitarism was excluded. His phenotype strongly resembled Silver Russell syndrome, but genetic analysis by MLPA revealed Temple syndrome – hypomethylation of loci MEG3 (imprinting regions of chromosome 7, 11 a 14). We will suggest him growth hormone treatment at the age of 3 years. He is under care of rehabilitation center and muscle strength is improving. Second case represents 4 years old girl with obesity, muscle hypotonia, psychomotor delay and short stature (SDS of height -2). She was seen by many specialists, later genetic analysis confirmed Schaaf-Yang syndrome also known as Prader Willi syndrome-like syndrome. It is caused by a mutation in the MAGEL 2 gene, located on the 15th chromosome and therefore behaves clinically like Prader Willi syndrome. We started growth hormone treatment which is significantly improving her growth, body composition, muscle strength and psychomotor development. The clinical manifestations of both syndromes may mimic other rare conditions especially at the early stage of life. Most patient suffering from presenting rare diseases might be suspected to have Prader Willi syndrome or Silver Russell syndrome, consistent with phenotypic overlaps (muscle hypotonia, growth and feeding failure). Ye would like to emphasize the importance of more detailed clinical examination and further specific genetic analysis to reveal the real origin of the condition in the case of clustering of pathological signs.