Abstract
A 41-year-old woman, suffering from continuous abdominal pain, only presented a non-specific inflammation of the whole colon and an unclaryfied hyponatriaemia; in spite of the only doubtful explanation by an enormous elongation of the colon, it was partially resected. Thereafter, the patient's decline, hypaesthesia, areflexia and tetraparesis required intensive care. Despite immunoglobulin therapy, assuming a Guillain-Barré syndrome, the patient needed resuscitation, followed by signs of severe hypoxia (high level of neuron-specific enolase, hippocampal lesions). The abdominal pain, hyponatriaemia, persistent tachycardia, sensory deficits, tetraplegia, circulation arrest, later epileptic seizures and unusual urine color were finally explained by an acute intermittent porphyria (AIP). Although the symptoms were classic, the disease was recognized only very late. Indeed, it is so rare that most physicians will never be confronted with an AIP or only once or twice.
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