Sunday, August 5, 2018

Repeated USMLE Questions Step 2 CK- 260

A 14-year-old student is brought to the emergency room complaining of severe abdominal pain. Diagnostic tests reveal high levels of δ-aminolevulinate and porphobilinogen and a deficiency of uroporphyrinogen I synthetase in the urine.

Given the above test results, which of the following symptoms would be presented in this case?

A- Hypotension

B- Polyphagia

C- Neuropsychiatric disturbances

D- Stiff neck


Based on the laboratory results, we can conclude that the patient is suffering from acute intermittent porphyria (AIP). This condition is caused by a deficiency of uroporphyrinogen I synthetase. High levels of porphobilinogen and δ-aminolevulinate (ALA) cause abdominal pain, high sympathetic tone, neuropathy, along with neuropsychiatric disturbances, which may include depression, seizures, anxiety, as well as paranoia. The condition typically strikes in young age.

The correct answer is C

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