Case Report on Neurodevelopmental Condition Accompanied by Anomalies in the Brain and Baldness

Abstract

Background: Heterozygous pathogenic mutations in KDM6B have recently been connected to a rare neurodevelopmental illness called "Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities". This disorder is characterised by nonpathognomonic body and face dysmorphisms, a variety of behavioural and neurodevelopmental problems, and nonspecific neuroradiological abnormalities. Histone demethylase is expressed in multiple tissues during development and is encoded by the protein KDM6B, which controls the accessibility of chromatin by RNA polymerase, hence regulating gene expression. A case of an 8-year-old male patient in AVBRH Sawangi Meghe with a novel de novo pathogenic variation in KDM6B is reported, manifesting behavioural characteristics linked to oppositional defiant disorder, ADHD, and autism spectrum disorders, dysgraphia, facial dysmorphisms, and a single seizure episode. Additionally, the patient had a single cerebellar heterotopic nodule detected on neuroimaging, which has never been reported in this line of work. These results broaden the range of symptoms associated with this disease, providing important information for genetic counselling and suggesting a possible function for KDM6B in cerebellar development.