Akute Neuropathie mit Tetraparese und Ateminsuffizienz bei akuter intermittierender Porphyrie

Zusammenfassung

Die akute intermittierende Porphyrie wird durch einen hereditären Enzymdefekt der Hämbiosynthese verursacht, der sich in den akuten Krisen der Erkrankung durch eine autonome und periphere Neuropathie sowie variable weitere psychiatrische und neurologische Symptome manifestieren kann. Die geschilderte Kasuistik beschreibt eine extrem schwere Form einer solchen akuten Krise mit progredienter Neuropathie bis hin zur vollständigen Tetraparese und Ateminsuffizienz.

Abstract

Acute intermittent porphyria is a hereditary disorder resulting from a partial deficiency of the third enzyme in the haeme biosynthetic pathway. Symptoms are due to metabolic effects on the peripheral autonomic and sensomotoric, as well as the central nervous system. We report on the case of a life-threatening acute crisis with tetraplegia and respiratory insufficiency.

Schlüsselwörter

akute intermittierende Porphyrie - Neuropathie - Porphyrie

Keywords

acute intermittent porphyria - neuropathy - porphyria

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