Anästhesieführung bei Patienten mit Dopa-responsiver Dystonie (Segawa-Syndrom) : Darstellung der Pathophysiologie, Klinik und Vorgehensweise anhand zweier Fallberichte

Abstract

Die Dopa-responsive Dystonie (Segawa-Syndrom) ist eine sehr seltene neurologische Erkrankung. Bei korrekter Diagnosestellung und adäquater Therapie sind gravierende Organfunktionsstörungen kaum zu erwarten. Dennoch sind Kenntnisse über das Krankheitsbild und die möglichen Anästhesieverfahren bei der Versorgung dieser Patienten von Bedeutung. Anhand zweier Kasuistiken werden die wesentlichen Fakten zur perioperativen Betreuung dieser Patientengruppe dargestellt.

Segawa syndrome (dopa-responsive dystonia [DRD]) is a rare neurometabolic disorder characterized by progressive dystonia, diurnal variation and tremors. It is caused by an enzymatic defect (a mutation of the GTPCH1 gene located on chromosome 14q) in the synthesis of tetrahydrobiopterin, an important substrate for dopamine synthesis. In the case of early correct diagnosis, clinical symptoms are well-controlled by levodopa therapy. The disease has several features which may lead to organ dysfunctions (e.g. torticollis, scoliosis, dysphagia and immobilization), which may be of concern for the anesthesiologist. Presenting two case reports of female patients undergoing elective cesarean section and breast cancer surgery, the main principles of perioperative management are discussed. Either techniques of regional or general anesthesia can be performed safely. Preoperative medication with levodopa should not be interrupted. Pharmacological agents with an antidopaminergic mode of action have to be avoided as well as significant pain and emotional stress situations in the perioperative period. Surgery in an ambulatory setting may not be recommended.