SHM Converge Scientific Abstract ePoster Gallery-A Case of Acute Intermittent Porphyria Masquerading as Guillian-Barre Syndrome

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This case describes a 22-year-old woman initially diagnosed with Guillain-Barré syndrome after presenting with lower-extremity weakness and diarrhea. She was treated with IVIG and had only mild improvement, remaining wheelchair-bound. Over time, her condition worsened with recurrent severe attacks, visual hallucinations, intense pain, autonomic dysfunction, areflexia, flaccid quadriparesis, impaired proprioception, bladder dysfunction, and dark “wine-colored” urine. She also became malnourished and required nasogastric tube feeding.<br /><br />Extensive workup was largely unrevealing, including MRI of the brain and cervical spine, autoimmune and heavy metal testing, and lumbar puncture. CK was markedly elevated. Muscle biopsy showed denervation-type changes and type 2 fiber atrophy.<br /><br />The correct diagnosis was acute intermittent porphyria (AIP), supported by markedly elevated urine and plasma porphyrin precursors: porphobilinogen (PBG) and aminolevulinic acid (ALA). A positive family history also supported the diagnosis.<br /><br />Treatment included hemin therapy, with carbohydrate loading and IV glucose used temporarily when hemin was not available. Givosiran was noted as life-long prophylaxis. The case also highlights important complications and monitoring needs, including iron overload, hypertension, chronic renal failure, and liver cancer surveillance with ultrasound every 6 months.<br /><br />The discussion emphasizes that AIP is a rare metabolic disorder caused by porphobilinogen deaminase deficiency and can mimic Guillain-Barré syndrome, autoimmune disease, or psychiatric illness. Diagnostic delay can occur due to anchoring bias. Prompt biochemical testing for PBG and ALA, along with a careful family history, is crucial and can be life-saving.

Asset Subtitle

Ya Gao

Meta Tag

Author List Haider Khalil, Jenna Laughlin, Ya Gao

Category Clinical Vignettes

Concept Acute Intermittent Porphyria

Concept Porphobilinogen

Concept Hemin

Concept Peripheral Neuropathy

Concept Autonomic Dysfunction

Distinguished Finalist

Presenter Organization Parkview Health

Presenting Author Ya Gao

Track Adult

Keywords

acute intermittent porphyria

Guillain-Barré syndrome mimic

porphobilinogen

aminolevulinic acid

hemin therapy

givosiran

neurovisceral attacks

autonomic dysfunction

wine-colored urine

porphobilinogen deaminase deficiency

Acute Intermittent Porphyria

Porphobilinogen

Hemin

Peripheral Neuropathy

Autonomic Dysfunction