Acute intermittent porphyria presenting as a diffuse 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.
Maramattom
Boby V
BV
Division of Critical Care Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA.
Zaldivar
Renzo A
RA
Glynn
Simon M
SM
Eggers
Scott D
SD
Wijdicks
Eelco F M
EF
D000293:Adolescent; D001927:Brain Diseases / Q000175:diagnosis* / Q000503:physiopathology; D002241:Carbohydrates / Q000627:therapeutic use; D003937:Diagnosis, Differential; D005260:Female; D006427:Hemin / Q000627:therapeutic use; D006801:Humans; D008279:Magnetic Resonance Imaging; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology*
D002241:Carbohydrates; D006427:Hemin