Acute intermittent porphyria, Rasmussen encephalitis, or both?
A case of a young woman who suffers from refractory epilepsy in the form of Rasmussen encephalitis and acute intermittent porphyria is presented. The patient developed refractory partial seizures with progressive hemispheric atrophy in the first decade. Both her serum and cerebrospinal fluid contained significantly elevated levels of anti-GluR3B antibodies. Her serum also contained anti-NR2A antibodies (directed against the N-methyl-D-aspartate receptor). Seven years later, acute intermittent porphyria was diagnosed as she developed an acute episode of abdominal pain, dark urine, and hyponatremia. For several years, all attempts to discontinue porphyrinogenic antiepileptic drugs such as phenobarbital and valproate resulted in seizure worsening. During a major acute intermittent porphyria crisis, brain edema and coma developed, allowing the discontinuation of phenobarbital. On recovery, atrophy of the right hemisphere ensued. Several etiologic hypotheses are presented. Double insults, porphyria, and an autoimmune process are suggested for the development of Rasmussen encephalitis in this patient. The authors recommend testing for porphyria in cases of Rasmussen encephalitis and other intractable seizures.
Tziperman
Barak
B
Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.
Garty
Ben-Zion
BZ
Schoenfeld
Nili
N
Hoffer
Vered
V
Watemberg
Nathan
N
Lev
Dorit
D
Ganor
Yonathan
Y
Levite
Mia
M
Lerman-Sagie
Tally
T
D000293:Adolescent; D001323:Autoantibodies / Q000378:metabolism; D016207:Cytokines / Q000378:metabolism; D004660:Encephalitis / Q000150:complications* / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D017118:Porphyria, Acute Intermittent / Q000150:complications* / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D014057:Tomography, X-Ray Computed / Q000379:methods
D001323:Autoantibodies; D016207:Cytokines