Acute Intermittent Porphyria: A Frequently Misdiagnosed Chameleon!
Keywords:
Acute intermittent porphyria, abdominal pain, Guillain-Barré syndromeAbstract
Acute intermittent porphyria (AIP) is an inborn disorder of heme biosynthesis, autosomal dominant in inheritance. It is a
frequent occurrence in young females of reproductive age group. While abdominal pain is the most frequent presentation
of this disorder, it can present with a myriad of clinical and biochemical features, frequently leading to misdiagnosis of this
condition. We present a case of a 17-year-old young female who presented with an acute onset weakness in all four limbs along
with absent deep tendon reflexes but characteristically preserved ankle jerks, who was initially diagnosed as Guillain-Barré
syndrome (GBS), treated with intravenous immunoglobulin (IVIg), succumbed to a chronic progressive course of weakness
and put on oral steroids. Lack of improvement and subsequent development of abdominal pain led us to investigate her for
urine for porphobilinogen which came out to be positive, thus leading to a final diagnosis of AIP.
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