Abstracts

Rationale: Christianson syndrome is a progressive X-linked neurodegenerative disorder that is characterized by pharmacoresistant epilepsy and loss of limited verbal and motor skills at the end of the first decade of life often related to episodes of status epilepticus. This case reports the effectiveness of precision ketogenic therapy for a patient who had intractable epilepsy and became seizure free for extended periods with stabilization of development.

Methods: Case report and review of the literature for patients with Christianson Syndrome or SLC9A6 mutation as key word in PubMed.

Results: 7-year male with SLC9A6 deletion (c.1284-1290.delATTTTACINS15) and epilepsy intractable to rufinamide, clobazam and cannabadiol who was placed on Precision ketogenic therapy (PKT) with baseline of 3-4 clusters of seizures daily described as left head turn followed by right body clonic jerking with secondary generalization or eye up rolling. Patient had multiple hospitalizations over the 6 months prior to PKT. He continued on above medications with PKT. One week after initiation, he was hospitalized for increased seizures and medications were adjusted. At one-month post initiation, he was reported to only have eye up rolling seizures. At 2 months, he was noted to go “days” without seizures. By 5 months, seizures were rare and occurred in a cluster over 3 days. He was 2 months seizure free but recurred with clobazam wean. Valproic acid was added for stabilization and continued for 2 months until patient developed viral pneumonia and briefly treated with steroids to improve his respiratory status. Six months after, he has been seizure free, off VPA, on PKT and baseline medications. He is described as much more active.

Past medical history is significant for feeding issues and g-tube insertion in first year of life and epilepsy onset at 10 months. Development was reported normal for first 6 months of life but then fell progressively behind. He was able to cruise on furniture by age 4 years and has become more active walking over last 6 months. He has never had speech. He is described as very happy and neurologic exam shows an ataxic gait. His head circumference is at 47.8 cm. Brain imaging was normal.

Review of literature shows > 70 patients. There are scatted reports (< 5) of ketogenic diet being tried without significant information of efficacy except in Schroer et al, 2010 which reported a liquid ketogenic diet was not successful. Seizure freedom for any period was extraordinarily rare with Coorg et al, 2013 reporting seizure freedom with trial of felbamate and 2 patients with either single seizure or brief period of seizures (2 months). There are reports of resolution of epilepsy in teenage years.