Case Presentation: A 29-year-old man with a history of mood disorder was admitted with acute encephalopathy after friends had requested a welfare check. The patient was found to have nonsensical speech, delusions of alien interaction and possible gait ataxia without other signs of focal neurological deficits. Vitals were within normal limits; no other significant physical exam findings were noted. Patient was found to have mild anemia with undetectable ferritin, toxicology with THC and an incidental small mass on the dome of the liver on Chest X-ray, suspected to be calcification within the liver. Comprehensive metabolic panel, thyroid stimulating hormone, urine/blood cultures, CT-head and lumbar puncture were all unremarkable. The patient was evaluated by psychiatry on admission with concern for an atypical presentation of schizophrenia versus substance-induced psychosis given his disorganized speech, delusions, and a possible family history of such. Antipsychotics were initiated without improvement after 3 days’ duration; plans were made for inpatient psychiatry transition. CT abdomen/pelvis was obtained to further investigate the liver calcification, and the patient was found to instead have a large right lower lobe pulmonary arteriovenous malformation measuring 2.6 cm (Figure 1) as well as small renal and liver infarcts. This prompted an urgent MRI brain which revealed late acute multifocal infarcts of the left superior cerebellum, right mid brain, and bilateral ventral medial thalami consistent with the patient’s timeline and presentation.
Discussion: Pulmonary arteriovenous malformations (PAVM) are rare in the general population and are most commonly congenital due hereditary hemorrhagic telangiectasia (HHT). PAVM is present in 15-20% of patients with HHT and neurologic complications, such as stroke or brain abscess, can occur in up to 40% of patients without appropriate AVM monitoring and management. The discovery of the PAVM in conjunction with patient’s iron deficiency anemia led to increasing suspicion for HHT. The patient endorsed recurrent nosebleeds and, upon discussion with mother, it was uncovered that she had a diagnosis of HHT. The patient met 3 diagnostic criteria for HHT: spontaneous and recurrent epistaxis, visceral involvement, and first degree relative with HHT.
Conclusions: Multifocal embolic stroke, as demonstrated in this patient, can manifest as global encephalopathy, and nearly went undiagnosed prior to psychiatry transfer. This case highlights the importance of a detailed family history, particularly in young patients, as well as a heightened awareness of provider cognitive bias toward psychiatric or substance use diagnoses in otherwise healthy individuals with undifferentiated encephalopathy. The patient was treated with IV iron and underwent a pulmonary AVM embolization to prevent further emboli. Over the following four months, his cognitive function improved with rehabilitation, and he established care with an HHT Center of Excellence for ongoing chronic disease management.
