Sporadic adult-onset neuronal intranuclear inclusion disease: a clinical analysis of two cases

Abstract

Objective To analyze the clinical features of patients with sporadic adult-onset neuronal intranuclear inclusion disease (NIID), and raise awareness of the disease among medical workers. Methods The clinical data of two patients with pathologically confirmed adult sporadic NIID, admitted to our hospital in February 2018 and October 2018, were collected. The clinical manifestations, head MR imaging, cutaneous pathological features, treatments and prognoses were retrospectively analyzed. Results Both patients were characterized with slow progressive dementia, accompanied with diverse clinical manifestations involving the central and autonomic nervous systems. Acute encephalopathic signs occurred in both patients. Head MR imaging showed extensive leukoencephalopathy mainly in the frontal and parietal lobes; these white matter abnormalities showed hyperintensity in T2-weighted imaging and liquid attenuated inversion recovery sequences, and equal or low signal in T1-weighted imaging. Remarkably, specific curve-like high-intensity signals along the corticomedullary junction in the bilateral frontal lobe were both observed in diffusion-weighted imaging. Patient 2 with seizures showed unilateral cerebral cortical edema on head MR imaging. In both patients, skin biopsy revealed specific eosinophilic inclusion bodies in the nucleus of some sweat gland cells, adipocytes and fibroblasts. Patient one was treated with dexamethasone intravenous drip to relieve headache and vision loss, and cognitive therapy was given. The acute encephalopathy of patient two was relieved by intravenous gamma globulin. Conclusions NIID has various clinical manifestations of central, peripheral, and autonomic nerve systems. Head MR imaging characteristic changes and skin pathological biopsy contribute to the diagnosis. Immunomodulatory therapy may be effective for acute encephalopathic symptoms in NIID. Key words: Neuronal intranuclear inclusion disease; Dementia; Acute encephalopathy; Leukoencephalopathy; Skin biopsy