Disclosures: Natalia Miranda-Cantellops, MD: No financial relationships or conflicts of interest

Case Diagnosis: Severe diffuse polyneuropathy secondary to acute intermittent porphyria (AIP)

Case Description: A 21 year-old woman without past medical history developed acute abdominal pain, seizures, and ascending paralysis. Intravenous immunoglobulins were administered given concern for Guillain-Barre syndrome, without improvement. She required intubation for acute hypoxic respiratory failure. Electrodiagnostic testing revealed severe motor axonal polyneuropathy. Urine aminolevulinic acid and total porphyrin levels were elevated, consistent with a diagnosis of AIP. On admission to rehabilitation, she was awake, significantly underweight, and severely dysphonic. She demonstrated diffuse flaccid limb weakness, worse proximally, and required total assistance with all mobility and self-care.

Setting: Inpatient rehabilitation facility (IRF)Assessment/

Results: She was in an IRF for 21 days receiving multidisciplinary rehabilitation as well as weekly hemin infusions. Tolerance of therapies was initially limited by severe abdominal pain, which responded well to a fentanyl patch. She received supplemental tube feeds for 2 weeks with appropriate weight gain. At time of discharge, her family was independent in her care. She regained head and trunk control, the ability to abduct her shoulders and flex her hips, and was able to propel a power wheelchair.

Discussion: AIP is a rare metabolic disorder that results in the accumulation of toxic porphyrin precursors in the body. Affected individuals classically present with periodic brief attacks of severe abdominal pain. However, patients may also present with confusion, seizures, and/or severe neuropathy. Fortunately, the majority of patients with AIP fully recover function with appropriate treatment, though recovery may take several months.

Conclusion: AIP may result in a severe acute motor neuropathy. Affected individuals benefit from intensive inpatient rehabilitation, pain management, and nutritional support services.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/porphyria-induced-tetraplegia-a-case-report/