PMC9637264_01
left image: Brain computed tomography scan without contrast showed grey-white matter differentiation of the cerebrum and cerebellum is preserved, however there is subtly reduced density of the cerebrum relative to the cerebellum, suggesting mild/early diffuse edema. No sulcal effacement and ventricles are normal in appearance. Right and middle image: Abdominal computed tomography scan with intravenous contrast reveals marked distension of stomach and duodenum
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F1
Urgent brain computed tomography (CT) scan showed brain edema (figure 1). Due to severe abdominal pain, abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air-fluid level or obstructing masses (figure 1).
Summary of genetic testing findings (left) and its interpretation (right)
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F2
Genetic sequencing results showed a heterozygous pathogenic variant in the hydroxymethylbilane synthase (HMBS) gene, which confirmed the diagnosis of autosomal dominant AIP (figure 2).