佐々木 剛

22q11.2欠失症候群(以下,本疾患)は先天性心疾患や特徴的顔貌,そして精神疾患の合併が多いことで知られている。今回我々は,神経発達症や統合失調症として治療が行われ,先天性心疾患の既往や特徴的顔貌を欠くも後に本疾患と診断された症例を経験したので報告する。症例は20代前半女性。薬物療法を行うも,精神病症状,特に爆発性や衝動性を伴う滅裂な言動は改善せず,治療に難渋した。本疾患を疑い遺伝子診療科にコンサルトしたが,先天性心疾患の既往と特徴的顔貌を欠き疑いにくいとされた。翌年再度コンサルトを行い,遺伝子検査で本疾患との診断が確定した。本疾患は先天奇形の既往がないと診断されにくいとの報告があり,本邦で本症例のような経過での報告は,管見の限り初出である。先天奇形の既往が無くとも,神経発達症と精神病症状が存在し,特に爆発性や衝動性を伴う精神運動興奮が前景に立つ場合には,本疾患を鑑別することが望ましい。(著者抄録)

We describe the case of an unvaccinated 21-year-old Japanese male who experienced psychotic symptoms attributed to encephalopathy, known as post-acute COVID-19 syndrome (PACS). One week after his discharge following the remission of a SARS-CoV-2 infection, he experienced hyperactive delirium and unexpected movements of his limbs. As COVID-19-associated encephalopathy was suspected as a cause of the psychotic symptoms, he was admitted to the Department of Neurology. He received antiviral and steroid pulse therapy, but his psychiatric symptoms did not improve completely. Consequently, he was admitted to our psychiatric ward with a diagnosis of a primary psychotic disorder. Although he did not take psychopharmacotherapy, he gradually achieved a remission of psychiatric symptoms. At three months post-SARS-CoV-2 infection, single-photon emission computed tomography (SPECT) revealed hypoperfusion in the bilateral cerebellar dentate nuclei and occipital lobes. However, no abnormal findings were observed on fluorine-18 fluoro-deoxy-glucose positron emission tomography (18F-FDG PET) at six months after the infection. This case indicates that (1) brain perfusion SPECT can be effective for detecting functional alterations in post-acute COVID-19-associated encephalopathy, and (2) it is necessary to carefully monitor patients' progress instead of quickly diagnosing a primary psychotic disorder.

We describe a 32-year-old Japanese female with hypersomnia and bipolar disorder. She had developed hypersomnia and sleep attacks in her teens. She was misdiagnosed with narcolepsy at a neurology department and then received methylphenidate (MPH) for many years. After giving birth, she developed postpartum depression and suffered from mood swings and irritability. Following 10-year treatment with methylphenidate, she experienced MPH-induced psychosis when she was in a manic state. Her psychosis improved rapidly with the cessation of methylphenidate. Furthermore, brexpiprazole treatment ameliorated her manic symptoms and hypersomnolence. Post-discharge, she was diagnosed with idiopathic hypersomnia based on nocturnal polysomnography and a multiple sleep latency test. This case indicates that brexpiprazole as a serotonin dopamine activity modulator might provide therapeutic effects against not only the patient's manic symptoms but also idiopathic hypersomnia.