Monday, September 28, 2009

32 year old male with abdominal pain, vomiting, psychiatric symptoms and visual hallucinations

Chandu, aged 32 years presents with abdominal pain and vomiting. He also complains of some psychiatric symptoms and visual hallucinations. Most likely diagnosis is:

A. Intermittent Porphyria
B. Hypothyroidism
C. Hyperthyroidism
D. Hysteria

Answer is A. Intermittent Porphyria
Acute intermittent porphyria is a neurovisceral syndrome, and should be suspected whenever a patient presents with a constellation of symptoms suggesting involvement of both viscera and nervous system. All porphyrias are dominant, except for Congenital erythropoetic porphyria which is recessive.

Neurovisceral Symptoms could be:
  1. Visceral: Abdominal Pain, nausea, vomiting, ileus, abdominal distension, constipation and visceral pain anywhere.
  2. Neural: 
  •  Sympathetic Overactivity: Tachycardia, hypertension, restlessness, urinary retention, constipation, increased sweating, cardiac arrythmia (Beware of Sudden Death!)
  • Mental Symptoms: Anxiety, insomnia, depression, disorientation, hallucination, paranoia, seizures
  • Peripheral Neuropathy due to axonal degeneration. Predominantly motor involving asymmetrical, proximal, focal areas.

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