Favorable response to classic ketogenic diet in a child with anti-GAD 65 antibody mediated super refractory status epilepticus.

Autoimmune encephalitis refers to a spectrum of inflammatory brain diseases which can present as drug-resistant seizures in children. Hereby, we report a case of anti-GAD-65 antibody encephalitis in a 7-year-old child who presented with superrefractory status epilepticus (SRSE). The traditional management with multiple anti-seizure medications at appropriate dosage and immunotherapy was tried despite which the child continued to have seizures. Hence the child was initiated on a classic ketogenic diet. He achieved ketosis within 48 h of diet initiation and there was a drastic reduction in the seizure frequency followed by a completed remission. Hence, this non-pharmacological intervention was an effective adjunct in achieving seizure control in our patient. A ketogenic diet has been sparingly used for the management of post-encephalitic epilepsy and autoimmune epilepsy. However, the data onthe effectiveness of the ketogenic diet in the management of autoimmune encephalitis is scarce. Starting KD early in the disease course helped not only in seizure control but also preserved the cognitive and neurological well-being of the child.

An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene.

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon. Infantile spasms as presentation are hitherto unreported. Here we present a rare case of an 8-month-old infant diagnosed as Joubert syndrome with ZNF423 mutation who presented with West syndrome. Early diagnosis and appropriate management of the child effectively reduced the spasms.