The Clinical And Neuroimaging Features Of 19 Patients With Adult-onset Neuronal Intranuclear Inclusion Disease

Objective:Through the analysis of the clinical data and imaging manifestations of adult neuronal intranuclear inclusion body disease,the clinical characteristics and imaging characteristics of the disease are further understood,in order to provide clinicians with reference in the diagnosis of the disease.Methods:The clinical data of 19 adult patients with neuronal intranuclear inclusion body disease diagnosed and treated at the First Affiliated Hospital of Nanchang University from January 2018 to June 2021 were retrospectively analyzed,It mainly includes the general information of the patient,the clinical manifestations(the first clinical manifestations,the main clinical manifestations),and the characteristics of the head magnetic resonance.According to the patient’s MMSE scale(Simple Intelligence Scale)scoring results,it was divided into two groups,namely the Cognitive normal of neuronal intranuclear inclusion disease(NIID-CN)and the NIID cognitive dysfunction group(NIID-CI);the relationship between cognitive dysfunction and cranial magnetic resonance imaging performance was compared;According to the score,the severity of cognitive dysfunction was divided into mild dementia and moderate to severe dementia;the severity of leukopathy was divided into mild group(grade 0-1)and moderate to severe group(grade 2-3)according to the classification assessment of Fazekas;and the difference between cognitive dysfunction and the degree of leukopathy of different severity was compared.Results:1.A total of 19 NIID patients were collected,of which 7 were male(36.8%)and12 were female(63.1%),the minimum age of onset was 35 years old,the maximum age of onset was 73 years,the average age of onset was(58.21±9.20 years old,and the average age from onset to diagnosis(i.e.,the course of the disease)was(2.26±4.97)years.There is no significant difference in the proportion of men and women in the number of people affected.2.The first symptoms in the 19 patients with NIID included limb movement disorder(26.3%),cerebral cortex damage(26.3%),followed by cognitive dysfunction(21.1%),extrapyramidal system damage(21.1%),and cerebellar function impairment(5.3%).Among these symptoms,the age of onset,age of presentation,and malefemale ratios were not significant.3.The main symptoms in the 19 patients with NIID included cognitive dysfunction(52.6%),the age of onset of patients with cognitive dysfunction manifestations was not statistically significant();autonomic dysfunction(31.6%),cerebral cortex damage(31.6%),extrapyramidal damage(31.6%),limb movement disorders(26.3%),cerebellar symptoms(10.5%),peripheral neuropathy(5.3%),among these symptoms,the age of onset The age of visitation and the difference in the proportion of men and women are not significant.4.Regardless of the presenting symptom or the main symptom,the mean age of presentation and age of onset of manifestations of extrapyramidal system impairment(e.g.,tremor)were younger and longer than those of patients without such manifest-ations.5.Among the 19 patients with NIID,the characteristics of cranial magnetic resonance include high signal at the characteristic dermal-myelin junction on DWI imaging(84.2%);bilateral symmetrical and diffuse white matter lesions of T2W1 and FLAIR to varying degrees(68.4%);cerebellar atrophy(36.8%);deep white matter symmetry FLAIR hyperintensity(26.3%);fair hyperintensity shadow of the foot in the cerebellum(10.5%);patients with abnormal image manifestations of the cerebellum did not have cerebellar symptoms.There was no significant difference between the imaging manifestations of cerebellar abnormalities and the clinical cerebellar symptoms,the DWI hyperinflordity of the corpus callosum pressure(42.1%),and the supine ventricular enlargement(10.5%).6.100%(10 cases)of patients in the cognitive impairment group had bilateral symmetrical and diffuse white matter lesions of T2W1 and FLAIR,and 33.3%(3cases)of patients in the non-cognitive impairment group had this performance,P<0.05,and the difference was statistically significant.7.According to the MMSE score of the patients,the cognitive dysfunction group was divided into 2 cases of mild dementia(20%)and 8(80% of moderate and severe dementia)and 3 cases of moderate and severe dementia;the severity of the corresponding head MRI leukoplasma was divided into mild white matter lesion group and moderate and severe white matter lesion group using The Fazekas classification was used to classify the corresponding head MRI white matter lesions into mild white matter lesion group and moderate to severe white matter lesion group;the relationship between the two groups was analyzed,P<0.05,and the difference was statistically significant.8.Seven(70%)of the patients in the cognitive impairment group had a corpus callosum pressure DWI hypersigninity,and only 1(10%)of the non-cognitive dysfunction group had a purveal hypertension DWI signal,comparing the correlation between the two,the P<0.05 was obtained,and the difference was statistically significant.Conclusion:1.The first clinical manifestations of adult neuronal intranuclear inclusion body disease are,in order,limb movement disorder,cerebral cortex damage,cognitive dysfunction,vertebral extracorporeal damage,and cerebellar damage.2.The main clinical manifestations of adult neuronal nuclear inclusion body disease are,in order,cognitive dysfunction,autonomic dysfunction,cerebral cortex damage,vertebral extracorporeal damage,limb movement disorders,cerebellar damage,and peripheral neuropathy.3.Clinical manifestations of extravertebral system damage(e.g.,tremor)in adult NIID are not only common,but also early manifestations.4.In addition to the high signal at the characteristic dermal-medullary junction on the DWI,the presence of T2W1 and FLAIR bilateral symmetrical diffuse leukoplasm lesions,d WI hyperinfloral signals in the corpus callosum pressure,abnormal FLAIR high-intensity signals in the deep white matter of the cerebellum hemisphere and the foot in the cerebellum all require vigilance against NIID,and it is necessary to improve skin biopsy and genetic testing.5.The most common manifestations of cranial MAGNETIC resonance are,in order,hyperintensity at the characteristic dermal-myelin junction on DWI,bilateral symmetrical and diffuse leukopathy of T2W1 and FLAIR,DWI hyperintensity in the corpus callosum pressure,cerebellar atrophy,cerebellar atrophy,symmetrical FLAIR hyperintensity in the deep white matter of the cerebellar hemisphere,and FLAIR hyperintensity of the foot in the cerebellum.6.In cranial magnetic resonance,leukoplasmic lesions are associated with cognitive dysfunction,and patients with cognitive impairment are more likely to have leukopathy,and cognitive dysfunction is positively correlated with the severity of leukopathy.7.Callosum pressure DWI hyperinflex signal in cranial magnetic resonance is associated with cognitive dysfunction,and patients with cognitive dysfunction are more likely to have callosum pressure DWI hyperinflection.