Objective To summarize the clinical manifestations and diagnostic methods of adult neuronal intranuclear inclusion disease(NIID),improve understanding of the disease,and avoid misdiagnosis.Methods Clinical data of 8 adult NIID patients in the Hunan region were collected,and their clinical manifestations,cranial imaging,genetic testing,skin biopsy,and other characteristics were analyzed.Results Among the 8 patients,4 were males and 4 were females;The initial symptoms of 2 patients were dizziness,2 were mental abnormalities,2 were stroke like attacks,1 was urinary incontinence,and 1 was limb tremor;Six patients experienced slow progression of the disease,while two patients experienced sudden progression after several years of slow progression;The GGC repeat amplification mutation in the 5'untranslated region of the NOTCH2NLC gene,as well as the lace like sign in the brain cortex medullary junction on diffusion-weighted imaging(DWI)and the presence of eosinophilic transparent inclusion bodies in the nucleus on skin biopsy,were helpful in diagnosing NIID.Conclusions The clinical manifestations of NIID are highly heterogeneous,and some patients have rare initial clinical symptoms,which are prone to misdiagnosis and missed diagnosis.It is necessary to combine imaging,genetic testing,and skin biopsy to confirm the diagnosis;Some patients may experience sudden progression and poor prognosis after years of slow progression.
维普
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