Diagnosis and Management of Genetic Derivation 22 and 11 Chromosome-Emanuel Syndrome in 10-Year Old Boy

Author(s): Juna Musa, Edlira Horjeti, Ali Guy, Kristi Saliaj, Diamant Shtiza, Elton Ceka, Dorina Musa, Loran Rakovica

Emanuel syndrome (ES) is a very rare chromosomal disorder, also known as Supernumerary derivative (22)t(11;22) Syndrome. Although the chromosomal disorder exhibits classic clinical features to the post-natal child, parents usually may be phenotypically normal. In most of the cases, a carrier parent has inherited the t(11;22) from one of his parents. Usually it presents a wide range of clinical presentation, such as growth delay, failure to thrive, congenital heart defects, renal abnormalities, craniofacial dysmorphism and microcephaly. ES as a complex disorder that requires a multidisciplinary team of different specialists aims for improving the quality of life and obtaining a stationary condition. Early detection and follow-up of the development of milestones in these patients leads to rapid improvement of their clinical and laboratory findings. We here present an interesting case of a 10 year old male with ES managed step by step complications in years.