title: Thyroid gland neurofibroma in a NF1 patient.
abstract: Neurofibromas are a hallmark of neurofibromatosis type 1 (NF1). They are usually benign and rarely present in the thyroid gland region. There is a suspected association between NF1 and intramedullary thyroid carcinoma and there is a well-known association between NF1 and pheochromocytoma. Here, we present a 55-year-old man with typical symptoms of NF1, whose course was complicated by a neurofibroma of the thyroid gland. His clinical spectrum of symptoms included bilateral cataract established before the age of 35 years, quadriparesis and an intrathoracic mass. The patient died because of abdominal carcinomatosis of unknown origin. The rarity of thyroid gland neurofibroma is discussed here, emphasizing the importance of early detection of these and other NF1 complications, also including the risk of malignant transformation with lethal outcome.
authors.affiliation: Department of Neurology, Medical School, Athens National University, Eginition Hospital, Athens, Greece. maryan@ath.forthnet.gr
authors.forename: M
authors.initials: M
authors.lastname: Anagnostouli
authors.forename: G
authors.initials: G
authors.lastname: Piperingos
authors.forename: C
authors.initials: C
authors.lastname: Yapijakis
authors.forename: P
authors.initials: P
authors.lastname: Gourtzelidis
authors.forename: S
authors.initials: S
authors.lastname: Balafouta
authors.forename: C
authors.initials: C
authors.lastname: Zournas
authors.forename: D
authors.initials: D
authors.lastname: Vassilopoulos
authors.forename: D
authors.initials: D
authors.lastname: Koutras
authors.forename: C
authors.initials: C
authors.lastname: Papageorgiou
mesh_terms: D000008:Abdominal Neoplasms / Q000150:complications*; D001706:Biopsy; D002277:Carcinoma / Q000150:complications*; D002386:Cataract / Q000150:complications; D017809:Fatal Outcome; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008488:Medical Illustration; D008875:Middle Aged; D009455:Neurofibroma / Q000150:complications / Q000175:diagnosis*; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis; D013899:Thoracic Neoplasms / Q000150:complications* / Q000175:diagnosis; D013964:Thyroid Neoplasms / Q000150:complications / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed