Acute intermittent porphyria with central pontine myelinolysis and cortical laminar necrosis.
Acute intermittent porphyria (AIP) is an autosomal-dominant disease caused by a deficiency of porphobilinogen (PBG) deaminase. Patients with AIP present with neurological syndromes such as autonomic neuropathy, peripheral axonal neuropathy or central nervous system dysfunction. We report serial MRI of a patient with AIP who had cortical and subcortical cerebral changes. A 29-year-old woman with a 6-month history of AIP had an attack with severe hyponatraemia and generalised convulsions, treated with haem arginate and supportive therapy. MRI showed central pontine and extrapontine myelinolysis and cortical laminar necrosis. These are not common in AIP, but are likely to have been caused by rapid correction of hyponatraemia and by vasospasm, which could be induced by AIP.
Susa
S
S
Third Department of Internal Medicine, Yamagata University School of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan.
Daimon
M
M
Morita
Y
Y
Kitagawa
M
M
Hirata
A
A
Manaka
H
H
Sasaki
H
H
Kato
T
T
D000328:Adult; D001120:Arginine / Q000627:therapeutic use; D001921:Brain / Q000473:pathology*; D005260:Female; D005440:Fluid Therapy; D006418:Heme / Q000627:therapeutic use; D006801:Humans; D007010:Hyponatremia / Q000209:etiology / Q000628:therapy; D017590:Myelinolysis, Central Pontine / Q000209:etiology*; D009336:Necrosis; D017118:Porphyria, Acute Intermittent / Q000150:complications* / Q000188:drug therapy; D012462:Saline Solution, Hypertonic / Q000009:adverse effects / Q000627:therapeutic use; D012640:Seizures / Q000209:etiology; D020301:Vasospasm, Intracranial / Q000209:etiology
D012462:Saline Solution, Hypertonic; D006418:Heme; D001120:Arginine; C048849:heme arginate