Acute Intermittent Porphyria, Rasmussen Encephalitis, or Both?
| Autor: | Tally Lerman-Sagie, Dorit L. Lev, Vered Hoffer, Nili Schoenfeld, Nathan Watemberg, Mia Levite, Yonathan Ganor, Barak Tziperman, Ben-Zion Garty |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Pediatrics
medicine.medical_specialty Abdominal pain Adolescent 03 medical and health sciences 0302 clinical medicine Atrophy 030225 pediatrics medicine Humans Autoantibodies Acute intermittent porphyria Coma business.industry nutritional and metabolic diseases medicine.disease Magnetic Resonance Imaging Discontinuation Porphyria Porphyria Acute Intermittent Anesthesia Pediatrics Perinatology and Child Health Cytokines Encephalitis Female Phenobarbital Neurology (clinical) medicine.symptom Tomography X-Ray Computed business Hyponatremia 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Journal of Child Neurology. 22:99-105 |
| ISSN: | 1708-8283 0883-0738 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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