Objective: We described a case of a 62-years old lady with underlying diabetes and hypertension, presented with  right upper intermittent resting tremor and stiffness for 6 months. She had background of 20-years history of major depressive disorder which subsequent development of bipolar disorder. The initial diagnosis of drug-induced parkinsonism was suspected given the exposure history to multiple neuroleptic medications.

Background: Further history revealed 6-years slow progressive deterioration of memory impairment with recurrent fall. Subsequently, patient developed slowness of movement together with lost of bladder control and  became totally dependent of basic activities of daily living (ADLs) in the recent years. She had two other siblings who had passed at the age of 50s with undiagnosed cognitive disabilities.

Method: Examination revealed thin lady with right unilateral mild resting tremor with severe bradykinesia and global aphasia. General motor power was 3/5 on MRC grading with no rigidity. Eye movement were normal and no clinical evidence of optic atrophy orautonomic dysfunction. Formal neurocognitive assessment was possible to be performed.

Results: Hematology, biochemistry and lumbar puncture examination were normal except slightly elevated cerebral spinal fluid  protein of 0.56g/dL .

Brain MRI [picture 1] showed generalised brain atrophy with T2-weighted and FLAIR imaging revealed diffuse symmetrical hyperintensities involving the entire white matter extending to brainstem and subcortical U-fibers.

DWI sequence [picture 2] showed curvilinear bright signals at the grey-white matter junction.

Given the typical characteristic images findings in correlation with clinical history, neuronal intranuclear inclusion disease (NIID) was highly suspected. Patient was offered for skin biopsy to look for intranuclear hyaline inclusion bodies and genetic testing but family members undecided.

Conclusion: Diagnosis of NIID should be entertained especially in patient who presented with dementia, movement disorders and bladder problem. This underrecognized entity especially outside Japan has a very distinctive MRI features. Familial form of NIID has also been reported  Both physician and radiologist should have high index of suspicion in the patient with Parkinsonism and recognize the characteristic DWI features on MRI as it carries different prognosis and direction of care.

References: [1] Chi, X., Li, M., Huang, T. et al. Neuronal intranuclear inclusion disease with mental abnormality: a case report. BMC Neurol 20, 356 (2020). https://doi.org/10.1186/s12883-020-01933-8
[2] Jung NY, Lee HJ, Mizuguchi T, Matsumoto N. Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease. J Clin Neurol. 2022 May;18(3):358-360. doi: 10.3988/jcn.2022.18.3.358. PMID: 35589323; PMCID: PMC9163938.
[3] Yu, WY., Xu, Z., Lee, HY. et al. Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images. Neuroradiology 61, 1281–1290 (2019). https://doi.org/10.1007/s00234-019-02257-2

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MDS Abstracts - https://www.mdsabstracts.org/abstract/slow-progressive-neurocognitive-impairment-with-parkinsonism-a-rare-adult-onset-neuronal-intranuclear-inclusion-disease-niid-case-report/