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Acute porphyria presenting as epilepsia partialis continua
Thi Phuoc Yen Tran1, Karine Leduc, Martin Savard
1Service de Neurologie, Hôpital Notre-Dame, Centre Hospitalier Universitaire de Montréal, Montréal, Qué., Canada.
Case Reports in Neurology
|July 31, 2013
Summary
Heme biosynthesis defects, known as acute porphyrias, can cause neurological issues like seizures. This study highlights two hereditary coproporphyria cases presenting with epilepsia partialis continua (EPC), a rare seizure type.
Area of Science:
- Neurology
- Biochemistry
- Genetics
Background:
- Acute porphyrias are metabolic disorders affecting heme biosynthesis.
- Neurological manifestations, including seizures, can occur during acute attacks.
Observation:
- Two cases of hereditary coproporphyria (HCP) presented with new-onset status epilepticus.
- Both patients developed epilepsia partialis continua (EPC) refractory to standard treatment.
Findings:
- HCP diagnosis was confirmed by elevated porphyrin levels and genetic testing.
- One patient experienced recurrent seizures with alcohol use, while the other succumbed to cerebral edema.
Implications:
- Acute porphyrias should be considered in the differential diagnosis of new-onset status epilepticus, including EPC.
- Prompt recognition is crucial as certain anticonvulsants can exacerbate porphyria.
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