Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, VIC, Australia.
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S63-5. doi: 10.1007/s10545-009-9021-x. Epub 2010 Jan 13.
We describe the presentation of an adolescent with juvenile-onset Niemann-Pick disease type C (NPC) who presented with post-ictal psychosis in the context of a developing seizure disorder. After demonstrating mild gait disturbance beginning at the age of 4 years, he was diagnosed with NPC at age 12 on the basis of 95% of cultured fibroblasts staining positive for filipin and a reduced fibroblast cholesterol esterification rate. He then developed a seizure disorder at age 15, where clusters of seizures produced typical psychotic symptoms, including hallucinations and delusions. His seizure disorder responded to valproate, which resulted in a settling of his psychotic symptoms. Whilst post-ictal psychosis is rarely reported prior to the age of 16, NPC in adolescents and adults is particularly psychotogenic and may increase the risk for post-ictal psychosis in the pediatric population.
我们描述了一名青少年 NPC 患者的临床表现,该患者在癫痫发作的背景下出现了癫痫后精神病。在 4 岁时出现轻度步态障碍后,他在 12 岁时被诊断为 NPC,依据是 95%的培养成纤维细胞 Filipin 染色阳性和纤维母细胞胆固醇酯化率降低。随后,他在 15 岁时出现癫痫发作,癫痫发作集群产生了典型的精神病症状,包括幻觉和妄想。他的癫痫发作用丙戊酸钠控制,其精神病症状得到缓解。尽管癫痫后精神病很少在 16 岁前发生,但青少年和成人 NPC 尤其容易导致精神病,可能会增加儿科人群癫痫后精神病的风险。