What this deck covers
Acute Intermittent Porphyria in twelve clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.
Diagnoses and management options tested
Across the twelve cases you are asked to choose between options such as: Jaundice, hepatosplenomegaly, and pruritus, Acute Intermittent Porphyria, Acute appendicitis with a febrile seizure, Diabetic ketoacidosis, Hereditary coproporphyria with blistering photosensitivity, Maculopapular rash, hepatomegaly, and scleral icterus, Malar rash, arthritis, and oral ulcers, Fasting, caloric restriction, or dieting, Infections, fever, and stress, Sun exposure and ultraviolet light radiation, A twenty-four hour urine porphyrin collection, A random spot urine porphobilinogen level, Fecal porphyrin analysis, Routine twenty-four hour urine porphobilinogen monitoring, Prophylactic hemin therapy, Variegate porphyria, Hereditary coproporphyria, Aminolevulinic acid dehydratase deficiency porphyria, Guillain-Barré syndrome, A spinal cord compression syndrome, An acute porphyria attack, Oral phenobarbital for sedation and pain control, Intravenous high-dose phenytoin for seizure prophylaxis, Osteosarcoma, with annual bone imaging studies, Retinoblastoma, with annual ophthalmologic examination.
Clinical pearls from this deck
- AIP causes acute neurovisceral attacks with NORMAL skin. Severe abdominal pain (~90%, no peritoneal signs), autonomic dysfunction (tachycardia, hypertension, urinary retention), neuropsychiatric features (confusion, agitation, seizures), peripheral neuropathy with proximal weakness, and dark/reddish urine. Unlike the other porphyrias there is NO cutaneous photosensitivity. (D describes congenital erythropoietic porphyria; B describes PCT/variegate.)
- Think AIP with the triad of unexplained seizures + abdominal pain + hyponatremia. Hyponatremia (SIADH-mediated) occurs in ~25–60% and can be severe. Key trap: antiepileptics like phenytoin are porphyrinogenic and can PRECIPITATE further attacks — do not reflexively give them. Childhood-onset is slightly commoner in males; dark urine is a valuable clue.
The twelve worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.
More from this system: all metabolic and genetic decks and question sets · pediatric reference values.
