December 3, 2015: Neurologic manifestations of Hereditary Hemorrhagic Telangiectasia

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DECEMBER 3, 2015

Neurologic manifestations of Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant angiodysplastic disorder characterized by dermal and mucosal telangiectasias and visceral vascular lesions. Most common visceral lesions are pulmonary arterio-venous malformations (PAVMs). These cause hypoxia, secondary polycythemia and propensity to clot formation, which can cause ischemic stroke by paradoxical embolization across the PAVM. Cerebral aneurysms, cerebral and spinal cord arterio-venous malformations can be seen. Defects in wall of pulmonary AVMs can cause air embolism during hemoptysis and septic emboli may lead to brain abscesses. Cirrhosis due to liver lesions predisposes to porto-systemic encephalopathy.

  1. Sobel D, Norman D. CNS manifestations of hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 1984; 5: 569-573.

Submitted by Zubeda Sheikh, MD, PGY-4, Department of Neurology, Rutgers- New Jersey Medical School, Newark, New Jersey.

Disclosures: Dr. Sheikh reports no disclosures.

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