title: Hereditary Hemorrhagic Telangiectasia presenting as migraine: a case report.
abstract: BACKGROUND
  Hemorrhagic Hereditary Telangiectasia (HHT) is an autosomal dominant disease characterized by the presence of multiple arteriovenous malformations (AVMs). Migraine is described in association with HHT in adulthood, while only few paediatric cases are reported in the literature.
  
  
  OBJECTIVE
  In this paper, we describe an atypical case of HHT in a 7-year-old boy, who presented severe and recurrent episodes of migraine-like headache as the first symptom of the disease.
  
  
  METHODS
  The patient was accurately investigated both clinically (general, neurological and dermatological examinations), instrumentally (electroencephalogram, brain magnetic resonance, transcranic Eco-color-Doppler, contrast echocardiography and enhanced chest computed tomography) and genetically.
  
  
  RESULTS
  Familial history was positive for HHT in the paternal line. Both general and neurological examination were normal. Brain magnetic resonance imaging showed a minor old infarct in the right parietal and occipital lobes. Transcranic Eco-color-Doppler, contrast echocardiography and enhanced chest computed tomography revealed a pulmonary AVM. Cephalalgia resolved after transcatheter embolotherapy. A genetic test, identifying the mutation in endoglin gene both in the patient and in the father, confirmed the suspected diagnosis of HHT.
  
  
  CONCLUSIONS
  Although headache is rarely reported in children as the first symptom of HHT, we warn clinicians on this possible link, as a promptly diagnosis is advisable in order to prevent potential complications.
authors: Child Neuropsychiatry Unit, Neuroscience Department, University of Parma, Parma, Italy. Electronic address: carlottafacini@gmail.com.
authors: Carlotta
authors: C
authors: Facini
authors: Child Neuropsychiatry Unit, Neuroscience Department, University of Parma, Parma, Italy.
authors: Elena
authors: E
authors: Pavlidis
authors: Child Neuropsychiatry Unit, Mother and Child Department, University-Hospital of Parma, Parma, Italy.
authors: Emanuela Claudia
authors: EC
authors: Turco
authors: Child Neuropsychiatry Unit, Neuroscience Department, University of Parma, Parma, Italy.
authors: Francesco
authors: F
authors: Pisani
mesh_terms: D001165:Arteriovenous Malformations / Q000175:diagnosis / Q000473:pathology; D001921:Brain / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D004569:Electroencephalography; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008881:Migraine Disorders / Q000175:diagnosis* / Q000473:pathology; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000473:pathology
keywords: Arteriovenous malformations; Hemorrhagic Hereditary Telangiectasia; Migraine; Secondary cephalalgia