title: Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family.
abstract: BACKGROUND
  The objective of this study was to examine the clinical, pathological and genetic features of a family suffering from hereditary endotheliopathy with retinopathy and encephalopathy.
  
  
  METHODS
  The index case was male, and his symptoms were detected at 18 years of age. The clinical manifestation included recurrent headache, fever, consciousness disturbances and haemiplegia. Bilateral cerebral hemispheric lesions were detected via MRI as low signals on T1 and high signals on T2 and FLAIR, with moderate enhancement. Video EEG revealed an increase in the slow wave frequency. An EMG displayed neurogenic atrophy. Similar clinical and imaging characteristics were detected in his mother and his uncle. Pathological examinations of the brain, muscle and sural nerve were performed on the index case. Sequence analysis of the TREX1 gene was performed on the index case, his sister and his father.
  
  
  RESULTS
  A brain biopsy revealed spongiform alterations as well as inflammatory cell infiltration in a few small vessels. Neurogenic muscular atrophy was detected based on a biopsy of the muscle. Demyelination was detected based on a biopsy of the sural nerve. Electron microscopic examination of the sural nerve revealed thickening and delamination of the basement membrane. No reported TREX1 gene mutation was detected for any of the patients.
  
  
  CONCLUSIONS
  Hereditary endotheliopathy presented with peripheral nerve involvement. Multi-laminar thickening of the basement membrane of the capillaries also appeared in the extracerebral tissue. The involvement of a novel gene should be further examined.
authors.affiliation: Department of Neurology, First Affiliated Hospital of Sun Yat-Sen University, Guangdong Key Laboratory for Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department, National Key Discipline Guangzhou 510080, China.
authors.forename: Yu-Hua
authors.initials: YH
authors.lastname: Fan
authors.affiliation: State Key Laboratory of Oncology in South China; Cancer Center, Sun Yat-Sen University Guangzhou 510080, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Sun
authors.affiliation: Department of Pathology, First Hospital, Peking University Beijing 100034, China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
authors.affiliation: Department of Neurology, First Affiliated Hospital of Sun Yat-Sen University, Guangdong Key Laboratory for Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department, National Key Discipline Guangzhou 510080, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Neurology, First Affiliated Hospital of Sun Yat-Sen University, Guangdong Key Laboratory for Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department, National Key Discipline Guangzhou 510080, China.
authors.forename: Zhong
authors.initials: Z
authors.lastname: Pei
authors.affiliation: Department of Neurology, First Affiliated Hospital of Sun Yat-Sen University, Guangdong Key Laboratory for Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department, National Key Discipline Guangzhou 510080, China.
authors.forename: Shi-Hui
authors.initials: SH
authors.lastname: Xing
authors.affiliation: Department of Pathology, First Affiliated Hospital, Sun Yat-Sen University Guangzhou 510080, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Liao
authors.affiliation: Department of Neurology, First Affiliated Hospital of Sun Yat-Sen University, Guangdong Key Laboratory for Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department, National Key Discipline Guangzhou 510080, China.
authors.forename: Jin-Sheng
authors.initials: JS
authors.lastname: Zeng
mesh_terms: D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D004730:Endothelium, Vascular / Q000473:pathology*; D006801:Humans; D008297:Male; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology*; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology*; D014652:Vascular Diseases / Q000235:genetics / Q000473:pathology*; D055815:Young Adult
keywords: Hereditary endotheliopathy; TREX-1; biopsy; vascular disease