A severe neurological sequela in acute intermittent porphyria: presentation of a case from encephalopathy to quadriparesis

Br J Radiol. 2008 May;81(965):e135-40. doi: 10.1259/bjr/39757649.

Abstract

Porphyrias present themselves with autonomic or peripheral neuropathy or central nervous system dysfunction. They are a varied group of inborn errors of metabolism that are characterized by specific inherited enzyme defects in haem biosynthesis. A patient whose mother was diagnosed as having porphyria was admitted to hospital because of her abdominal pains and dysuria. She had three generalized convulsions and, in a few hours, she lost the vision in both of her eyes. As the seizures continued, she became quadriparetic and fell into a coma after gradually losing consciousness. She improved but with sequelae; her serial MRIs, including apparent diffusion coefficient map imaging, diffusion-weighted imaging and angiography, showed ischaemic lesions that were both unlike and more severe than the ones reported in the literature.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Diseases / complications*
  • Brain Diseases / diagnosis
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Porphyria, Acute Intermittent / complications*
  • Quadriplegia / etiology*