Pediatric neurology
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Pediatric neurology · Dec 2013
Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution.
Hereditary hemorrhagic telangiectasia is an autosomal dominant genetic disease with a wide array of vascular malformations involving multiple organs. Brain arteriovenous malformations can lead to intracranial hemorrhage and are often diagnosed only after patients become symptomatic. Early diagnosis and interventional treatment may prevent neurologic sequelae or death. Because of the rarity of defined cases, the spectrum of presentations in children with brain arteriovenous malformations and hereditary hemorrhagic telangiectasia has not been explored in detail. Here, we report our experience in children with hereditary hemorrhagic telangiectasia and brain arteriovenous malformations regarding both disease manifestations at presentation and the spectrum of brain arteriovenous malformation manifestations. ⋯ This study highlights the importance of both family history and early clinical signs to prompt further diagnostic testing to avoid intracranial hemorrhage from brain arteriovenous malformations in children with hereditary hemorrhagic telangiectasia.
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Acute cerebellitis is a rare inflammatory syndrome in children, with either infectious or autoimmune etiologies. ⋯ Our report demonstrates that group A streptococcal can lead to acute cerebellitis.