Acute intermittent porphyria presenting with neurological emergency: Review of six cases

2007 ◽  
Vol 55 (4) ◽  
pp. 413 ◽  
Author(s):  
DhanpatK Kochar ◽  
Mahender Pal ◽  
SanjayKumar Kochar ◽  
Arvind Vyas ◽  
Abhishek Kochar ◽  
...  
Author(s):  
Antonio Fontanellas ◽  
Matías A. Ávila ◽  
Elena Arranz ◽  
Rafael Enríquez de Salamanca ◽  
Montserrat Morales‐Conejo

2012 ◽  
Vol 49 (3-4) ◽  
pp. 147-151 ◽  
Author(s):  
Valentina Brancaleoni ◽  
Francesca Granata ◽  
Alessandra Colancecco ◽  
Dario Tavazzi ◽  
Maria Domenica Cappellini ◽  
...  

2013 ◽  
Vol 85 (3) ◽  
pp. 1207-1214 ◽  
Author(s):  
ANNA R.R. DOS SANTOS ◽  
RAFAELA R. DE ALBUQUERQUE ◽  
MARIA J.R. DORIQUI ◽  
GRACIOMAR C. COSTA ◽  
ANA PAULA S.A. DOS SANTOS

Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen. This disease shows nonspecific signs and symptoms that can be confused with other diseases, thereby making the diagnosis difficult. We report a case of acute intermittent porphyria, reviewing clinical and laboratory aspects, highlighting the hematological and biochemical parameters during and after the crisis. A female patient, aged 28 years, suffered two crises, both presenting gastrointestinal disorders. The second presented neuropsychiatric symptoms. The analysis of hematological and biochemical parameters during the second crisis showed anemia, leukocytosis, hyponatremia, mild hypokalemia, uremia and elevated C-reactive protein. The initial treatment included glucose infusion, a diet rich in carbohydrates and interruption of porphyrinogenic drugs. Subsequently, treatment was maintained with oral contraceptive use. According to the observed data, signs and symptoms of gastrointestinal, neurological and psychiatric disorders, associated with laboratory results presented in this paper can be applied to screen acute porphyria, contributing to early diagnosis.


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