CLINICAL CASE A 21 year old healthy male college student we
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Jatin Prajapati
CLINICAL CASE

A 21 year old healthy male college student went to celebate his birthday with some friends at a bar. His friends convinced him to have his first beer since he just turned 21. After comsuming beer, he began to experiance intense, worsening abdominal pain that was non specific in location and described as cramping. Nausea and vomiting then ensued and he was taken to the ER.

Upon arrival to the ER, he was found to be very anxious with hallucinations. He was noted to be hypertensive, tachycardiac, and diaphoretic. Peripheral neuropathy was also noticed on examination. Initial laboratory test revealed a normal CBC, drug screen, and EtOH level. Serum and Urine aminolevulinic acid (ALA) and porphobilinogen (PBG) were both found to be elevated.

What is the likely diagnosis??
What is the underlying biochemical problem??

Jog your brain.
(Answer will be posted within 48 hours.)
S●●●●●●a V●●●●●●u and 9 others like this4 shares
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Dr. V●●●●●●n T●●●●●l
Dr. V●●●●●●n T●●●●●l Anaesthesiology
AIP
Jun 21, 2017Like1
Dr. G●●●●●●●●n T●●●●●●●●●n
Dr. G●●●●●●●●n T●●●●●●●●●n Anaesthesiology
Porphyria
Jun 21, 2017Like1
J●●●n P●●●●●●●i
J●●●n P●●●●●●●i General Medicine
Yes Its Porphyria (likely acute intermittent porphyria) Biochemical Problem : Enzymatic deficiency in heme biosynthetic pathway. Clinical Correlation : Patients often are asymptomatic unless exposed to factors that increase production of porphyrias (drugs, alcohol, sunlight). Erythropoetic varieties primarily present with photosensitivity. Hepatic porphyrias present with primarily neurovisceral symptoms such as: abdominal pain, nausea and vomiting, tachycardia and hypertension, peripheral neuropathy, and mental symptoms( hallucinations, anxiety, seizures). Diagnosis is confirmed with elevated level of ALA and PBG in the urine and serum. Treatment is supportive with avoidance of triggers in the future.... Read more
Jun 21, 2017Like2