A 22-year-old woman is brought to the emergency department with confusion after a tonic-clonic seizure. She has no prior history of seizures, headaches, or recent febrile illness. The patient has suffered from recurrent nosebleeds for years with several visits to urgent care clinics for nasal packing. She takes no medications.
The patient's blood pressure is 134/85 mm Hg and pulse is 98/min. She has no meningeal signs and moves all her extremities. Deep-tendon reflexes are 2+ bilaterally.
Laboratory results are as follows:

Additional physical examination findings are shown in the photograph below.

Which of the following is the most likely diagnosis?

Question

A 22-year-old woman is brought to the emergency department with confusion after a tonic-clonic seizure.  She has no prior history of seizures, headaches, or recent febrile illness.  The patient has suffered from recurrent nosebleeds for years with several visits to urgent care clinics for nasal packing.  She takes no medications.
The patient's blood pressure is 134/85 mm Hg and pulse is 98/min.  She has no meningeal signs and moves all her extremities.  Deep-tendon reflexes are 2+ bilaterally.
Laboratory results are as follows:

Additional physical examination findings are shown in the photograph below.

Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

11ec193a_96c2_830a_853d_e107d2397c7b_MD0002_00 Hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu syndrome, is a rare autosomal dominant disorder that usually presents with frequent spontaneous epistaxis (most common), mucocutaneous telangiectasias, gastrointestinal bleeding, and iron deficiency anemia. HHT patients are also at increased risk for venous thromboembolism. Patients can develop arteriovenous malformations (AVMs) in many organs, including the lung, brain, and liver. Cerebral AVMs in the brain or spinal cord can be asymptomatic or lead to headaches, seizures, hemorrhage, or stroke. Pulmonary AVMs result in right-to-left shunts with deoxygenated blood and hypoxemia. Most pulmonary AVMs have no respiratory symptoms but may lead to cerebral abscess and embolic stroke. Hepatic AVMs are usually silent but can sometimes result in biliary disease, portal hypertension, and high-output heart failure. HHT diagnosis depends on the following 4 clinical findings (> 3 to confirm): Frequent spontaneous epistaxisMultiple mucocutaneous telangiectasiasOrgan involvement (eg, AVMs in liver, brain, or lungs)First-degree relative with HHT Frequent spontaneous epistaxis Multiple mucocutaneous telangiectasias Organ involvement (eg, AVMs in liver, brain, or lungs) First-degree relative with HHT Epistaxis management usually includes nasal packing and iron supplementation, but severe cases may require blood transfusion. The other complications are treated according to standard guidelines (eg, embolotherapy for AVMs). (Choice B) Hypersensitivity (or cutaneous) vasculitis usually presents with palpable purpura, hematuria, bowel angina, and gastrointestinal bleeding. Symptoms usually start 7-10 days after exposure to a medication. This patient's epistaxis, seizures (cerebral AVMs), and absence of medication exposure make this unlikely. Hypersensitivity (or cutaneous) vasculitis (Choice C) Peutz-Jeghers syndrome typically presents with 1-5 mm flat blue-gray-to-brown spots that resemble freckles. Patents develop lesions in the lips, perioral region, hands, buccal mucosa, and feet. The syndrome is associated with gastrointestinal polyps but does not usually cause nosebleeds or seizures. (Choice D) Tuberous sclerosis usually presents with hypopigmented macules (ashleaf spots), angiofibromas on the face, shagreen patches in the lower trunk, or a brown fibrous plaque on the face. Although it can present with seizures, tuberous sclerosis does not usually cause epistaxis. ashleaf spots angiofibromas (Choice E) von Willebrand disease can cause recurrent bleeding but would not explain seizures and mucocutaneous telangiectasias. Educational objective: Hereditary hemorrhagic telangiectasia is a rare autosomal dominant disorder that usually presents with frequent spontaneous epistaxis (most common), mucocutaneous telangiectasias, gastrointestinal bleeding, and iron deficiency anemia. Patients can also develop arteriovenous malformations in many organs, including the lung, brain, and liver. __________ References: Hereditary hemorrhagic telangiectasia-related epistaxis: innovations in understanding and management. (http://www.ncbi.nlm.nih.gov/pubmed/22566463) Hereditary hemorrhagic telangiectasia: how accurate are the clinical criteria? (http://www.ncbi.nlm.nih.gov/pubmed/23401183) Iron deficiency anemia related to hereditary hemorrhagic telangiectasia: response to treatment with bevacizumab. (http://www.ncbi.nlm.nih.gov/pubmed/22227516)

A 22-Year-Old Woman Is Brought to the Emergency Department with Confusion