A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp)
| Autor: | Christopher M. Florkowski, Cindy Towns, Deborah Lambie, Chris Sies, Anthony Raizis, Wai-Kwan Siu |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
myalgia
Abdominal pain medicine.medical_specialty Clinical Biochemistry Encephalopathy 030204 cardiovascular system & hematology Gene mutation Gastroenterology Young Adult 03 medical and health sciences Coproporphyrinogen Oxidase 0302 clinical medicine Internal medicine Humans Medicine Brain Diseases business.industry General Medicine Emergency department Coproporphyria Hereditary medicine.disease Early Diagnosis Hereditary coproporphyria Mutation Vomiting Female Posterior Leukoencephalopathy Syndrome medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 55:616-619 |
| ISSN: | 1758-1001 0004-5632 |
| DOI: | 10.1177/0004563218774597 |
| Popis: | A 21-year-old female had recurrent presentations to the emergency department with myalgia, vomiting, abdominal pain and subsequently developed generalized seizures. She was volume depleted with a plasma sodium of 125 mmol/L (reference interval: 135–145) and she had fluctuating hypertension. Acute porphyria was suspected and confirmed with raised urine porphobilinogen/creatinine ratio of 12:4 μmol/mmoL (reference interval G (p.Leu288Trp) predicted to be deleterious and which segregated with three other affected family members. Although CT head was normal, magnetic resonance imaging scan revealed symmetrical signal abnormalities and swelling in the parietal and occipital lobes consistent with posterior reversible encephalopathy. Over several days, her seizures ceased and sodium and blood pressure normalized. The aetiology of the acute porphyric attack was likely multifactorial with contributions from a recent viral illness and caloric deprivation. No drug precipitant was identified. We postulate that untreated hypertension played a key role in the development of posterior reversible encephalopathy. Early clinical suspicion and urine porphobilinogen testing are the key components in preventing morbidity and mortality in acute porphyrias. |
| Databáze: | OpenAIRE |
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