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Acute Intermittent Porphyria, Rasmussen Encephalitis, or Both?

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel

Ben-Zion Garty, MD

Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petach-Tikvah, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel

Nili Schoenfeld, PhD

Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel

Vered Hoffer, MD

Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petach-Tikvah, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel

Nathan Watemberg, MD

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel

Dorit Lev, MD

Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel, Porphyria Reference Laboratory, Rabin Medical Center, Beilinson Campus, Petach-Tikva, Israel

Yonathan Ganor, MSc

Department of Neurobiology, Weizmann Institute of Science, Rehovot, Israel

Mia Levite, PhD

Department of Neurobiology, Weizmann Institute of Science, Rehovot, Israel

Tally Lerman-Sagie, MD

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel, asagie{at}post.tau.ac.il, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel

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.

Key Words: acute intermittent porphyria • Rasmussen • intractable seizures

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