Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report

Abstract: Creatine transporter deficiency (CRTR-D) is a rare X-linked inherited disease belonging to the group of cerebral creatine deficiency disorders. Major clinical features include developmental delay and epilepsy. To date, fewer than 200 individuals with CRTR-D have been reported. As a result, there is little evidence for effective treatment. Available therapies are creatine precursors, with a mild effect on disease progression. Concerning epilepsy, standard management is recommended and no specific anti-seizure medication (ASM) has been shown to be effective in refractory cases. We report the case of a 28-year-old male patient with CRTR-D and childhood-onset refractory epilepsy. He had an average of 10-20 focal motor seizures with impaired consciousness per month. He had tried several ASMs without significant improvement. Treatment with cannabidiol (CBD) and clobazam (CLB) in combination was added. The patient became seizure-free from the first week, and up to 1 year of follow-up. Behavioral improvement was also noted by his caregivers. No adverse effects were reported. Very few cases of CRTR-D with refractory epilepsy have been reported. This calls for more extensive research and suggests a possible role for CBD in cerebral creatine metabolism and transport and valuable option for future studies.

Parent Summary: This article describes a case of a 28-year-old man who had creatine transporter deficiency with seizures that did not respond to anti-seizure medications. He was having 10-20 focal-motor seizures a month before beginning the treatment described in this paper. Doctors added a combination of cannabidiol (CBD) and clobazam (CLB) to his existing medications. Remarkably, he became seizure-free within the first week and remained so for a year of follow-up. His caregivers also noticed improvements in his behavior, like better attention. They did not report any negative side effects. Although this is a small study, CBD has been shown to help control seizures in other conditions including Dravet and Lennox–Gastaut syndromes. Further study is warranted to determine whether CBD + CLB may be helpful to others with CTD.