Berthier M, Bonneau D, Desbordes J M, Chevrel J, Oriot D, Jaeken J, Laborit H
Services de Pédiatrie, de Génétique Médicale et d'Anesthésiologie, Centre Hospitalier Universitaire de Poitiers, France.
Acta Paediatr. 1994 Jun;83(6):678-80. doi: 10.1111/j.1651-2227.1994.tb13113.x.
Startle disease or hyperreflexia is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular hypertonia and myoclonic jerks, exaggerated by the slightest stimulus. Low concentrations of free gamma-aminobutyric acid (GABA) have been found in the cerebrospinal fluid of two affected infants. The involvement of GABA or its receptors has been raised and the use of GABA-agonist drugs has been suggested. We report a newborn with startle disease who also had a low concentration of GABA in the cerebrospinal fluid. No clinical improvement was observed with progabide, a GABA agonist. Furthermore, a high dose (100 mg/kg) of gamma-hydroxybutyrate (GHB) did not improve muscular stiffness and failed to induce general anesthesia. GHB, currently used as an effective general anaesthetic, is a structural analogue of GABA. It is present naturally at low concentrations in the brain and is regarded as an inhibitory neurotransmitter. Two specific GHB receptors, distinct from the GABA receptors, have been identified in rat brain. Failure to induce general anesthesia with a high dose of GHB suggests that one of these receptors could be involved in startle disease.
惊吓症或反射亢进是一种常染色体显性遗传性神经疾病，起病于新生儿期，其特征为肌张力亢进和肌阵挛性抽搐，哪怕是最轻微的刺激也会使之加剧。在两名患病婴儿的脑脊液中发现游离γ-氨基丁酸（GABA）浓度较低。GABA或其受体的参与作用已被提出，有人建议使用GABA激动剂药物。我们报告了一名患有惊吓症的新生儿，其脑脊液中GABA浓度也较低。使用GABA激动剂普罗加比未观察到临床改善。此外，高剂量（100mg/kg）的γ-羟基丁酸（GHB）未能改善肌肉僵硬，也未能诱导全身麻醉。GHB目前用作一种有效的全身麻醉剂，是GABA的结构类似物。它在大脑中以低浓度天然存在，被视为一种抑制性神经递质。在大鼠脑中已鉴定出两种不同于GABA受体的特异性GHB受体。高剂量GHB未能诱导全身麻醉表明这些受体之一可能与惊吓症有关。
