Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis.

Abstract

BACKGROUND:

Acute intermittent porphyria (AIP) is an autosomal dominant neurovisceral inherited disorder due to a defect in the heme biosynthesis pathway. Misdiagnosis of the porphyrias is not uncommon.

CASE REPORT:

We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis.

CONCLUSION:

Clinicians are alerted to consider the possibility of AIP in an adult presenting with an acute abdomen, features of cholecystitis, and neuropsychiatric manifestations.

• Authors: Majid Alfadhel, Neam Saleh, Helal Alenazi, Henry Baffoe-Bonnie
• Journal: Neuropsychiatric disease and treatment (Neuropsychiatr Dis Treat) Vol. 10 Pg. 2135-7 ( 2014) ISSN: 1176-6328 [Print] New Zealand
• PMID: 25419136 (Publication Type: Case Reports)