Borrell-Pichot Maria, Fons Carmen, Boronat Susana, Sierra-Marcos Alba
Neurology Department, Hospital Santa Creu i Sant Pau, Barcelona, Spain.
Pediatric Neurology Department, Sant Joan de Déu Hospital, Barcelona University, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Epilepsia Open. 2025 Feb;10(1):342-347. doi: 10.1002/epi4.13116. Epub 2024 Dec 16.
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. PLAIN LANGUAGE SUMMARY: Creatine transporter deficiency (CRTR-D) is a rare genetic disorder causing mental, behavioral, and movement problems. More than half of patients also have seizures, but because there are fewer than 200 known cases, it is difficult to know the best treatment options. We present a 28-year-old man with CRTR-D who had severe developmental delays and frequent seizures since childhood, despite trying many medications. After starting cannabidiol and clobazam, he has been seizure-free for a year. Sharing this success might help other people with CRTR-D benefit from similar treatments.
肌酸转运体缺乏症（CRTR - D）是一种罕见的X连锁遗传病，属于脑肌酸缺乏症范畴。主要临床特征包括发育迟缓与癫痫。迄今为止，报道的CRTR - D患者不足200例。因此，几乎没有有效治疗的证据。现有的治疗方法是肌酸前体，对疾病进展的影响轻微。关于癫痫，推荐采用标准治疗方案，尚无证据表明特定的抗癫痫药物（ASM）对难治性病例有效。我们报告了一例28岁男性CRTR - D患者，其童年起病，患有难治性癫痫。他平均每月有10 - 20次伴有意识障碍的局灶性运动性癫痫发作。他尝试了多种ASM，但病情无明显改善。加用了大麻二酚（CBD）和氯巴占（CLB）联合治疗。从第一周起患者癫痫发作停止，随访长达1年。其照料者也注意到了行为改善。未报告不良反应。报道的CRTR - D伴难治性癫痫的病例极少。这需要更广泛的研究，并提示CBD在脑肌酸代谢和转运中可能发挥的作用，以及对未来研究的宝贵选择。
肌酸转运体缺乏症（CRTR - D）是一种罕见的遗传疾病，会导致精神、行为和运动问题。超过半数患者还患有癫痫，但由于已知病例少于200例，很难知晓最佳治疗方案。我们介绍了一名28岁的CRTR - D男性患者，他自童年起就有严重的发育迟缓且频繁癫痫发作，尽管尝试了多种药物。开始使用大麻二酚和氯巴占后，他已无癫痫发作达一年。分享这一成功案例可能有助于其他CRTR - D患者从类似治疗中获益。
