BACKGROUND: The objective of this study was to examine the clinical, pathological and genetic features of a family suffering from @entity74 with @entity989 and @entity75 . METHODS: The index case was male, and his symptoms were detected at 18 years of age. The clinical manifestation included recurrent @entity10 , @entity221 , @entity1662 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 @entity194 . 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 @entity56596 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. @entity2057 was detected based on a biopsy of the muscle. @entity17 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 @entity56596 gene mutation was detected for any of the @entity1 . CONCLUSION: @entity74 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.

@entity74 with XXXX and @entity75 : pathological and genetic studies of a family.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity2057 :: ('MESH:D009133', 'Disease') :: ['Neurogenic muscular atrophy'] @entity17 :: ('MESH:D003711', 'Disease') :: ['Demyelination'] @entity75 :: ('MESH:D001927', 'Disease') :: ['encephalopathy'] @entity56596 :: ('11277', 'Gene') :: ['TREX1'] @entity194 :: ('MESH:D001284', 'Disease') :: ['neurogenic atrophy'] @entity74 :: ('MESH:D030342', 'Disease') :: ['Hereditary endotheliopathy', 'hereditary endotheliopathy'] @entity989 :: ('MESH:D012164', 'Disease') :: ['retinopathy'] @entity1662 :: ('MESH:D003244', 'Disease') :: ['consciousness disturbances'] @entity10 :: ('MESH:D006261', 'Disease') :: ['headache'] @entity221 :: ('MESH:D005334', 'Disease') :: ['fever']
@entity989 :: (MESH:D012164,Disease) :: ['retinopathy']
