A case report of hereditary hemorrhagic telangiectasia in a family with initial presentation of cerebral abscess and pul
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LETTER TO THE EDITOR
A case report of hereditary hemorrhagic telangiectasia in a family with initial presentation of cerebral abscess and pulmonary arteriovenous malformation in the proband Xiaojuan Han 1,2 & Tingming Xie 3 & Zenggang Yang 3 & Yifeng Du 1,2 & Shen Qi 2,4 Received: 18 February 2020 / Accepted: 30 May 2020 # Fondazione Società Italiana di Neurologia 2020
Dear Editor, Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease. The most common clinical manifestations are recurrent epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations (AVMs) in the lung, liver, gastrointestinal tract, and brain [1]. Three genes are involved in this disease: endoglin (ENG), activin A receptor type II-like kinase 1 (ACVRL1), and Sma- and Mad-related protein 4 (SMAD4) [2]. We herein describe a family with HHT characterized by a mutation of ENG. The proband’s initial presentation was a cerebral abscess accompanied by pulmonary AVM (PAVM). A 51-year-old man was admitted for a 3-day history of fever, headache and vomiting. Physical examination showed neck stiffness and a positive Kernig’s sign. His cranial nerves and motor and sensory systems were normal. Most importantly, we discovered mucosal and skin telangiectasia on the lips, tongue, and auricle (Fig. 1a). Fluid-attenuated inversion recovery (FLAIR) image showed a low-signal ring and significant edema around the low-density lesion accompanied by slight midline shift to the right (Fig. 2a). GadoliniumElectronic supplementary material The online version of this article (https://doi.org/10.1007/s10072-020-04500-8) contains supplementary material, which is available to authorized users. * Shen Qi [email protected] 1
Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, People’s Republic of China
2
Department of Neurology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, No 324, Jingwu Road, 250012 Jinan, Shandong, People’s Republic of China
3
Department of Neurology, Mengyin County People’s Hospital, Mengyin, China
4
Department of Neurology, Shandong Zaozhuang Municipal Hospital, Jinan, People’s Republic of China
enhanced T1WI showed ring-enhancement of the lesion and meningeal enhancement of the ipsilateral lobe (Fig. 2d). EEG was normal. Cardiac ultrasound showed normal cardiac structure. The white blood cell count was 12.2 × 109/L (4.0–10.0 × 109/L), and the neutrophil percentage was 79.2% (50–75%). Other blood tests were normal, including blood biochemistry, coagulation function, erythrocyte sedimentation rate, Creactive protein, procalcitonin, tumor markers, and a series of pathogenic microorganisms (G test, galactomannan test, tuberculosis antibody, human immunodeficiency virus, syphilis, hepatitis virus, and blood bacterial culture). In the cerebrospinal fluid (CSF) examination, the nucleated cell count and protein level reached 176 × 106/L (0.0–6.0 × 106/L) and 1.04 g/L (0.15–0.4 g/L), respectively, with normal pressure, glucose and ch
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