A severe neurological sequela in acute intermittent porphyria: presentation of a case from encephalopathy to quadriparesis.
Porphyrias present themselves with autonomic or peripheral neuropathy or central nervous system dysfunction. They are a varied group of inborn errors of metabolism that are characterized by specific inherited enzyme defects in haem biosynthesis. A patient whose mother was diagnosed as having porphyria was admitted to hospital because of her abdominal pains and dysuria. She had three generalized convulsions and, in a few hours, she lost the vision in both of her eyes. As the seizures continued, she became quadriparetic and fell into a coma after gradually losing consciousness. She improved but with sequelae; her serial MRIs, including apparent diffusion coefficient map imaging, diffusion-weighted imaging and angiography, showed ischaemic lesions that were both unlike and more severe than the ones reported in the literature.
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Istanbul University Faculty of Medicine, Istanbul, Millet Caddesi Capa 34390, Istanbul, Turkey. candan.gurses@gmail.com
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D000328:Adult; D001927:Brain Diseases / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D017118:Porphyria, Acute Intermittent / Q000150:complications*; D011782:Quadriplegia / Q000209:etiology*