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

Abstract

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.

Fetal MRI Analysis of Corpus Callosal Abnormalities: Classification, and Associated Anomalies

“…Many genetic disorders have been linked to CCA, including trisomy's, gene deletion syndromes, copy number variants, and X-linked disorders [3,19]. The genetic variants noted in the study have also been identified in many other studies [45][46][47][48][49]. The trisomy 8 mosaicism is the most common (13%) genetic abnormality detected in our study.…”

Auditory and Vestibular Rehabilitation In Corpus Callosum Agenesis: A Case Report and Literature Review

“…Research shows that during the rehabilitation process, specialists often focus on speech therapy, neuromotor and psychomotor therapy [3]. However, studies have shown that habilitative therapies applied early in development increase plasticity by exposing the brain to multiple stimulations [7]. In this way, it has been demonstrated that spontaneous compensation can be increased by using neural plasticity with a patient-speci c therapy program in the absence of an important structure such as CC [6,8,14].…”

Clinical Evaluation of the Five Patients with Mosaic Trisomy 8 Syndrome: Case Series

“…3 Komplet trizomi 8'in letal olduğu düşünülmektedir ve sadece mozaik durumda hayatla bağdaşan bir kromozomal hastalıktır. 2,3…”

“…Bu sendromda klinik oldukça değişken olabilmekle birlikte; dismorfik yüz bulguları, orta dereceli zihinsel yetersizlik, gelişme geriliği, korpus kallozum agenezisi, hidrosefali, derin palmar-plantar çizgilenme, kamptodaktili, eklem kontraktürleri, kardiyak anomaliler ve çeşitli ürogenital sistem anormallikleri görülmektedir. [1][2][3][4][5]…”