An unusual Neuronal Intranuclear Inclusion Disease with Chief Complaint of Autonomic Dysfunction

Background Neuronal intranuclear inclusion disease (NIID) is a recently defined disease entity of progressive neurodegenerative disease with characterizations of eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. The sporadic adult-onset NIID cases were previous described as ‘dementia dominant group’. Here we present a NIID case manifested prominently with recurrent vomiting. Case presentation A 60-year-old women present with paroxysmal vomiting, hypertention and decreased level of consciousness for 3 years. She was diagnosed with NIID based on history, clinical features, brain magnetic resonance imaging(MRI), skin biopsy. Conclusion Autonomic symptoms may manifest as the initial and predominant presentation of NIID. This case presentation may extend the spectrum of NIID and may give new insights in exploring the pathogenic mechanisms of NIID.


Introduction
Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder characterized by eosinophilic hyaline intranuclear inclusions presented in the central and peripheral nervous systems, and in the visceral organs [ 1]. Recently, it has been found that skin biopsy is an effective and less invasive antemortem diagnostic tool for NIID and shows similar pathological changes to post-mortem dissection [ 2]. The clinical manifestations differs among patients and can be classified into 3 categories according to the age of onset: infantile, juvenile, and adult forms [ 1]. Here we report a sporadic adult-onset NIID case with the chief complaint of recurrent vomiting, hypertention and decreased level of consciousness.

Case Presentation
A 60-year-old Chinese woman, who was a housewife, was admitted to our medical center due to recurrent vomiting and decreased level of consciousness for the past 3 years and the symptoms recurred during the recent 12 days. 3 years ago, the patient developed nausea and vomiting coupled with elevated blood pressure, urinary incontinence, somnolence and mutism. During the episode of symptoms, blood pressure elevated to 150~170/80~100mmHg from baseline of 125/75mmHg. There were not any prodromal symptoms of fever, dizziness or headache before disease episode. Symptoms appeared periodically for every half a month or 2 months and lasted for about 7~10 days and could be relieved after conventional supportive treatment. Her reaction had been slowing down for 2 years but could manage the daily housework and go shopping.12 days before administration, the patient had similar symptoms with longer time. She had a past medical history of diabetes mellitus, cataract and family history of fundus macular hole.
The patient has a poor health condition with a body weight index of 17.6 kg/m 2 . Physical examination revealed blood pressure of 130/84 mmHg and body temperature of 36.1 °C. The neurological examination revealed that she was dysphoric and did not respond to external stimulation. Her right pupil was irregular after cataract surgery and left pupil was normal. Fine nystagmus was noticed in her right eye. Deep reflexes, including biceps reflex, triceps reflex, patellar reflex and Achilles reflex disappeared. Active movement of limbs were visible and muscular tone was decreased. Both Babinski sign and Chaddock sign were positive bilaterally. We suppose that the asymmetrical distribution of intranuclear inclusions leads to different clinical phenotypes. However, further pathological and molecular studies will be necessary to fully understand the pathogenesis of NIID.
The prevalence rate of adult-onset NIID may be higher than previously thought [ 3]. We present a sporadic adult-onset NIID case with autonomic symptom as the chief complaint and playing as an important clue for diagnosis. DWI images and skin biopsy are critical in the correct diagnosis of NIID and should be considered as an essential step during diagnosis.

Consent to publish
Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor of this journal.

Availability of data and materials
All data and material supporting our findings are contained within the manuscript and additional supporting files.

Competing interests
The authors declare no conflicts of interest with respect to the research, authorship, and/or publication of this article.

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