A rare cause of recurrent abdominal pain: Porphyria

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Tarih

2014

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Logos Medical Publishing

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

Introduction and Aim: Acute intermittent porphyria (AIP) is among porphyrias which develop by genetic deficiency of heme biosynthesis. Life-threatening abdominal and neuropsychiatric manifestations are predominantly encountered. Here we have described a prepubertal case which presented first with severe abdominal pain and then diagnosed as AIP during her follow-up. Case: A 12-year-old girl, presented to the emergency department with accelerating abdominal pain, constipation and nausea. In her medical history, during the severe abdominal pain attacks she also had simultaneous arm and leg numbness, and tingling and her urine was red for four years. Physical examination was normal except for subfebrile fever, decreased muscle strength, especially in upper limbs, and hoarseness. The patient was diagnosed with AIP and heme arginate, dextrose 10 % in water infusion and propranolol were administered. With specific treatment hoarseness, abdominal pain and muscle strength were improved within three days. Conclusion: We concluded that, in patients with solely recurrent abdominal pain, constipation, and/or abdominal pain accompanied with neuropsychiatric features, acute porphyria should be suspected and the first step of the treatment is a high level of clinical suspicion. © 2014, Logos Medical Publishing. All Rights Reserved.

Açıklama

Anahtar Kelimeler

Abdominal Pain, Acute İntermittent Porphyria, Child

Kaynak

Goztepe Tip Dergisi

WoS Q Değeri

Scopus Q Değeri

N/A

Cilt

29

Sayı

3

Künye