Acute porphyria: an unusual case of quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures

Porphyria refers to a rare group of genetically inherited or acquired disorders that arise due reduced metabolic activity any the enzymes in haem biosynthetic pathway. Defect enzyme causes presentation symptoms porphyria. The epidemiology Acute Intermittent (AIP) is complicated because its rarity and delay diagnosis. We present case seven-year-old girl who presented with multisystem involvement; her were quadriparesis, hypertension, recurrent severe cyclic abdominal pain, seizures. These together not explained by differentials taken into account. She before puberty no family history such conditions, while being born consanguineous marriage. Her along urinary porphobilinogen positivity test helped reach diagnosis AIP absence cutaneous manifestations. ---Continue