Early and Innovative Rehabilitation in Warkany Syndrome 2 Associated with Agenesis of the Corpus Callosum: A Case Report

Trisomy 8 mosaicism syndrome (T8MS) or Warkany's syndrome 2 is a rare chromosomal disorder characterized by three copies of chromosome 8 in some cells of the body. T8MS incidence in the world population is about 1/25,000-50,000 live births with a 5:1 ratio between males and females. Since chromosomal mosaicism is often present in this syndrome, affected subjects present a phenotype varying from mild dysmorphism to severe structural anomalies. Malformations, including corpus callosum agenesis and renal abnormalities, have been described by many studies. We present a case in a girl 36 months in age, born to assisted fertilization (FIVET) and prenatal diagnosis by amniocentesis. In a fetus in the 22 week of gestation, she presented trisomy 8 mosaicism with ventriculomegaly, agenesis of the corpus callosum and a sequence of polymalformations. Through the early identification of symptoms that gradually occurred during development, the girl was submitted, early, to innovative complex instrumental using virtual reality (VR) rehabilitation. This study involves continuous monitoring and early management of symptoms, with the aim of improving the neurobehavioral outcomes of children with this rare disease by inducing structural neuroplastic responses and significantly reducing the impact that this disorder has on the development of children born without corpus callosum.

Automated summary

Trisomy 8 mosaicism syndrome is a rare chromosomal disorder characterized by structural anomalies and malformations. Early identification and innovative rehabilitation can improve neurobehavioral outcomes of affected children.