巨脑白质脑病伴脑下囊肿中的双相情感障碍：病例报告。
Bipolar disorder in megalencephalic leukoencephalopathy with subcortical cysts: a case report.
机构信息
Department of Social Welfare Service, Faculty of Human Sciences, Mejiro University, 4-31-1 Nakaochiai, Shinjuku-ku, Tokyo, 161-8539, Japan.
Department of Psychiatry, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.
出版信息
BMC Psychiatry. 2020 Jul 3;20(1):349. doi: 10.1186/s12888-020-02750-6.
BACKGROUND
Megalencephalic leukoencephalopathy with subcortical cysts (MLC), or Van der Knaap disease, is a rare spongiform leukodystrophy that is characterized by macrocephaly, progressive motor dysfunction, and mild mental retardation. It is very rare for mental illness such as psychotic disorders, affective disorders and anxiety disorders to occur in MLC.
CASE PRESENTATION
A 17-year-old boy was admitted to our hospital after he developed symptoms of depressive state with catatonia after being diagnosed as having MLC with confirmed MLC1 mutation. His catatonic symptoms were improved with administration of olanzapine and sertraline and he was discharged after 4 months. Several months later, he became hypomanic. He was diagnosed with bipolar II disorder. Mood swings were controlled with the administration of carbamazepine.
CONCLUSIONS
This case is the first report of bipolar disorder during the clinical course of MLC. This case indicate the possibility that MLC influences the development of bipolar disorder in MLC, however, further studies involving more patients are required to clarify this.
背景
巨脑性脑白质营养不良伴皮质下囊肿（MLC），又称范德克纳普病，是一种罕见的海绵状白质营养不良，其特征为巨脑、进行性运动功能障碍和轻度智力迟钝。MLC 中出现精神病性障碍、情感障碍和焦虑障碍等精神疾病非常罕见。
病例介绍
一名 17 岁男孩在被诊断为 MLC 并证实存在 MLC1 突变后，出现了伴有紧张症的抑郁状态，随后被收入我院。入院后，他接受奥氮平和舍曲林治疗，紧张症症状得到改善，4 个月后出院。数月后，他出现轻躁狂。他被诊断为双相情感障碍 II 型。卡马西平治疗控制了情绪波动。
结论
本例是 MLC 病程中出现双相障碍的首例报告。本病例提示 MLC 可能影响 MLC 中双相障碍的发展，但需要进一步研究更多患者来阐明这一点。
Zotero 插件