A 17-year-old boy presents to the emergency department with severe abdominal pain. Laboratory tests show a deficit in uroporphyrinogen I synthetase and excess δ-aminolevulinate and porphobilinogen in the urine. Which of the following symptoms would most likely also be
present in this patient?
(A) Chest pain
(B) Hypotension
(C) Neuropsychiatric disturbances
(D) Polyphagia
(E) Stiff neck
C
C
( C ) Neurophyschiatric disturbances
Neuro psychiatric disturbances (C)
C – Neuropsychiatric disturbances, due to there being an elevated amount of porphobilinogen in the urine this suggests that the patient is in the acute stage of neurologic porphyrias hence Neuropsychiatric disturbances being a symptom.
C – Neuro psychiatric disturbance
C) neuropsychiatric disturbances
THE CORRECT ANSWER – C : NEUROPSYCHIATRIC DISTURBANCES
EXPLANATION : This patient suffers from acute intermittent porphyria (AIP), an autosomal-dominant disorder caused by a lack of uroporphyrinogen I synthetase. The buildup of toxic levels of δ-aminolevulinate (ALA) and porphobilinogen lead to the associated symptoms of abdominal pain (more than 90% of cases), neuropathy, high sympathetic tone, and neuropsychiatric disturbances, including
anxiety, depression, seizures, and paranoia. AIP almost never presents before puberty, and it can be hard to diagnose because of its acute nature. Untreated, it can lead to paralysis and death.
C – neuropsychiatric disturbance