親子に出現したspike-wave stupor

Spike-wave Stupor in a Mother and Daughter

　抄録　62歳の母と39歳の娘に類似の臨床症状と脳波所見を示すspike-wave stuporが出現した。両症例ともspike-wave stuporは30代後半に初発したものであり，1回の「発作」は2〜3日続き，極期にはほぼ無言無動となり，その間，脳波上は3Hz前後の棘徐波複合の連続が認められ，発作間欠期脳波では右前頭に限局する突発性徐波が出現するなどの類似点があった。

　娘には中等度の精神薄弱があり，学童期に初発したけいれん発作を合併しており，「発作」後にしばしば被害的内容の幻覚・妄想がみられた。母は普通の知能を持ち，他のてんかん発作を持たず，幻覚・妄想を伴っていなかった。娘では頭部CTによって著明な小脳萎縮が見いだされたが，母のCT検査では異常所見は見いだされなかった。母ではバルプロ酸によりspike-wave stuporが完全に抑制されたが，娘では有効薬剤は明らかにならなかった。これらが両者の相違点であった。

　A mother and daughter suffering from spike-wave stupor were reported. Clinical symptoms and EEG findings in both patients were closely similar. In both patients, age at the onset of their spike-wave stupor was in the later thirties. Duration of an episode of their spike-wave stupor would be two to three days. Their symptoms fluctuated even during one episode. They were almost akinetic and mutistic when their symptoms were most prominent with diffuse, continuous spike and wave complex of 3Hz in the EEGs. Their interictal EEGs showed paroxysmal slow waves localized on the right frontal area.

　The daughter had mental retardation (imbecile), convulsive seizures since childhood, and hallucinations and delusions of injury in the post-stuporous period. The mother had normal intelligence and did not suffer from convulsive seizure, hallucinations or delusions. Brain CT of the daughter disclosed remarkable atrophy of the cerebellum, but that of her mother was normal. Pharmacotherapy with valproate sodium completely suppressed spike-wave stupor in the mother, but we failed to control the stupor of her daughter with pharmacotherapy.

　The present findings suggest that some genetic factor plays a role in spike-wave stupor.