Agenesia del cuerpo calloso como forma de presentación de un síndrome de deleción y duplicación invertida del brazo corto del cromosoma 8

Laburpena

Introduction: Agenesis of the corpus callosum (ACC) is characterized by total or partial absence of the main interhemispheric commissure, and may occur alone or associated with other anomalies. The deletion syndrome and inverted duplication of the short arm of chromosome 8, or invdupdel(8p), is a rare chromosomal disorder in which the ACC is one of its main features. Cours-ing with intellectual disabilities from mild to moderate, psychomotor retardation, hypotonia with progressive tendency to develop hypertony and orthopedic anomalies. Clinical case: We report a case of preterm newborn of 31 weeks gestational age requiring admission by prematurity and respir-atory distress. Obstetric history without interest and highlighted several relatives neonatal deaths of unknown cause by the ma-ternal grandmother. He showed little spontaneous mobility and generalized hypotonia with arthrogryposis of joints, especially wrists and hands. She said respiratory physiotherapy and respiratory support to discharge, at 3 months of life. Cerebral ultra-sound showed ACC and was confirmed on magnetic resonance imaging. Metabolic and infectious diseases were discarded and the genetic study was reported as syndrome deletion/duplication of the short arm of chromosome 8 which was confirmed by array-CGH. Conclusions: We highlight the importance of prenatal diagnosis of abnormalities such as ACC that can guide rare chromosomal abnormalities as invdupdel(8p) as well as perform karyotype all patients with congenital anomalies. In the presence of ACC with hypotonia should be excluded invdupdel(8p) chromosomopathy.