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Title: Diagnostic difficulty in a patient with recurrent attacks of acute polyneuropathy: Acute intermittent porphyria
Authors: Tekin, Selma
Karagulmez, Magrur
Erdogan, Cagdas
Degirmenci, Eylem
Tokgun, Onur
Keywords: Porphyria
acute intermittent porphyria
acute polyneuropathy
motor axonal polyneuropathy
Publisher: Cukurova Univ, Fac Medicine
Abstract: Acute intermittent porphyria is one of the most common porphyria subtypes. There is a critical need to diagnose porphyria, given its multisystem nature and the poor prognosis associated with incurable cases. Here we present the case of a 27-year-old female patient who had severe abdominal pain and who was operated on due to ileus with tetraparesis that manifested following an operation. The patient had muscle weakness in four limbs and symptoms of sympathetic hyperactivity and electrolyte imbalance. Moreover, neurophysiological studies supported acute axonal polyneuropathy. Owing to the neurological symptoms, electrophysiological studies, metabolic disorders, and the severe abdominal pain noted, porphyria was suspected. Porphobilinogen and ALA levels increased in the 24-hour urine test, and the patient was diagnosed with acute intermittent porphyria. In patients who have unexplained recurrent abdominal pain with additional autonomic dysfunction, neurological and / or psychiatric findings, porphyria, a rare disease, should come to mind.
ISSN: 2602-3032
Appears in Collections:Tıp Fakültesi Koleksiyonu
TR Dizin İndeksli Yayınlar Koleksiyonu / TR Dizin Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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