Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly

Heterozygous loss-of-function variants in the last 2 exons of KIDINS220 have been associated with spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO). Syndromic features of this condition include macrocephaly and dilatation of the lateral ventricles. Homozygous variants in the more proximal exons of KIDINS220 have been reported in several fetuses with a similar but more severe phenotype of limb contractures and severe ventriculomegaly identified in the second trimester of pregnancy.

We present here a 2.5-year-old female with profound global developmental delays and spasticity who was found by fetal ultrasound in week 19 of gestation to have bilateral talipes equinovarus and severe bilateral ventriculomegaly. Postnatal genetic testing revealed biallelic variants in KIDINS220.

To our knowledge, this is the first living individual reported with the autosomal recessive form of a KIDINS220-associated condition. This case provides additional information about the postnatal phenotype and a detailed history of development from prenatal ultrasonography.