Authors: Manoj Vasireddy,Hansashree Padmanabha, Thomas Mathew, ManjushaDepartment of Neurology, St Johns Medical College and Hospital, Bangalore, India

Background: Mutations in KDM6A gene is known to cause a rare neurogenetic epileptic syndrome called Kabuki Syndrome (KS).  Objectives: To describe a case of  genetically confirmed  KS with drug-refractory epilepsy and also highlight the effectiveness  of Perampanel.

Methods : A detailed clinical evaluation, MRI brain and genetic evaluation done for the child, and his antiepileptic treatment was modified with addition of perampanel and the child was closely followed up for the past six months. Genetic evaluation was done using the next generation sequencing.

Results:This 8 Year old boy had developmental delay in all the milestones noted since early infancy, along with left focal tonic seizures since 4 years of age. The frequency of seizures were 7-10/day. He was first born to non-consanguineous couple. Birth history was unremarkable. On examination, he was dysmorphic with elongated face, broad nasal bridge, long philtrum and prominent eyebrows. His neurological examination revealed mild generalized hypotonia, power of 3/5 in all limbs, preserved reflexes and downgoing plantars. His neuroimaging revealed mild diffuse cerebral atrophy. The clinical exome sequencing  identified a hemizygous single base pair insertion in exon 17 of the KDM6A gene.He had failed multiple anti-epileptics including phenobarbitone, phenytoin, levetiracetam, methylprednisolone and also ketogenic diet. The child was initiated on Perampanel and his seizures got controlled.

Conclusion: In any child with intellectual disability with dysmorphic facies possibility of Kabuki syndrome to be considered. Perampanel was effective in control of seizures.