Premium
Acute intermittent porphyria presenting as a diffuse encephalopathy
Author(s) -
Maramattom Boby V.,
Zaldivar Renzo A.,
Glynn Simon M.,
Eggers Scott D.,
Wijdicks Eelco F. M.
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20432
Subject(s) - acute intermittent porphyria , porphyria , medicine , encephalopathy
Although acute intermittent porphyria presents with dramatic neurological findings, the diagnosis is difficult. An 18‐year‐old woman had a clinical picture of porphyric encephalopathy. Magnetic resonance (MR) imaging demonstrated multiple large contrast‐enhancing subcortical white matter lesions, which regressed with glucose and hematin infusions. Diffusion‐weighted MR imaging was normal, and MR spectroscopy excluded acute demyelination or tissue necrosis. MR findings of acute intermittent porphyria can differ from those in posterior reversible encephalopathy syndrome by virtue of intense contrast enhancement. Because diffusion‐weighted MR imaging and spectroscopy were normal, the lesions are likely caused by reversible vasogenic edema and transient breakdown of the blood–brain barrier. Ann Neurol 2005;57:581–584