Severe neuropathic attack in a woman with acute intermittent porphyria: a case report

Abstract

Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disease with a broad spectrum of clinical manifestations, and can be easily confused with other diseases. Many patients with porphyria may have symptoms of peripheral nerve damage during an AIP attack, but most such patients are usually only mildly affected. Herein, we describe the case of an undiagnosed woman who developed overall weakness and respiratory failure within 48 hours, leading to her referral to the intensive care unit. Her neuropathy rapidly deteriorated, leading to quadriplegia and bulbar palsy within 14 days. Finally, the reddish color of her urine and further genetic analysis led to a diagnosis of AIP. The patient was treated with intravenous glucose infusion and her condition gradually improved; however, severe neurological sequelae remained. To the best of our knowledge, the AIP reported in this case, involving rapid and severe neuropathy, is extremely rare worldwide. A diagnosis of AIP should therefore be considered when patients present with severe progressive neuropathy. Moreover, early diagnosis may considerably improve patient prognosis.

Keywords: Acute intermittent porphyria; case report; diagnostic features; genetic analysis; intensive care unit; paralysis; severe neuropathy.

Figure 1.

Imaging results of the patient with acute intermittent porphyria. (a) Abdominal X-ray showing incomplete intestinal obstruction when the patient initially presented to the surgical unit. Obvious gastrointestinal gas is indicated by red arrows. (b) Abdominal computed tomography (CT) showing no obvious lesions when the patient was transferred to the intensive care unit. (c) Abdominal CT 14 days after the patient was transferred to the intensive care unit, showing unspecific intestinal obstruction. Extensive colonic expansion is indicated by blue arrows.

Figure 2.

Electromyography results of the patient with acute intermittent porphyria. (a) Traces showing that the motor conduction velocity of the left median nerve slowed down and the amplitude was decreased. (b) Traces showing that the F wave of the left tibial nerve was less than 10%.

Figure 3.

Urine analysis of the patient with acute intermittent porphyria. (a) Urine sample of the patient. (b) The same urine sample after exposure to sunlight for 3 hours.

Figure 4.

Genetic analysis of the patient with acute intermittent porphyria and her two sons. A missense mutation, c.541C > T encoding p. Gln181 in the HMBS gene, is indicated by a red arrow in the proband. Red arrows in the results of the genetic analyses of the patient’s two sons indicate that they do not carry the mutant gene.