Porphyria-induced Recurrent Quadriplegia Misdiagnosed as Guillain–Barré Syndrome

Introduction: Acute intermittent porphyria is the most common type of hepatic porphyria and a well-described, rare cause of neuropathy. Porphyric neuropathy can be a challenging diagnosis as neurological manifestations can be similar to Guillain–Barré syndrome. This case report describes a patient with recurrent weakness after infection, which was ultimately diagnosed as porphyric neuropathy. Case presentation: A 65-year-old female of Hispanic ethnicity developed acute respiratory failure and quadriplegia. She had a similar presentation several months prior and initially was diagnosed with an acute motor axonal neuropathy variant of Guillain–Barré syndrome. Given the recurrent attacks, tea-colored urine, dysautonomia, and syndrome of inappropriate secretion of antidiuretic hormone, acute intermittent porphyria was considered in the differential diagnosis. Urinary porphobilinogen, delta-aminolevulinic acid, and uroporphyrin were measured and found to be elevated, leading to the diagnosis of porphyria. Gene tests for eight different types of porphyria were negative. Although mutations could not be identified in this patient, acute intermittent porphyria could not be excluded because of the acute attacks and the biochemical abnormality correlates. Conclusions: Even though porphyric neuropathy can be a challenging diagnosis, accurate diagnosis is crucial to avoid permanent damage to peripheral nerves and prevent life-threatening attacks.