Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine

Abstract

Background.-Neuronal intranuclear inclusion disease (NIID) is considered a heterogeneous disease because of its highly variable clinical manifestations. To date, there are no reports of NIID patients presenting with hemiplegic migraine (HM)-like headache, or of HM and NIID co-occurring as comorbidity, and the connection between these 2 seemingly unrelated clinical conditions has yet to be established.Method.-We present a patient with NIID who was previously diagnosed with HM. To determine the pathogenesis of HM in this NIID patient, we systematically reviewed published NIID and HM cases and cataloged them based on their clinical manifestations.Result.-The clinical manifestations of NIID is highly various; however, there is no case reported to date that shows HMlike symptoms or cerebral edema. All documented symptomatic HM cases show vascular dysfunction to various degrees, but none of them has been shown to be correlated with NIID. Conclusion.-Our patient is the first documented case in which HM and NIID occur simultaneously. Vascular dysfunctions that cause cerebral hypoperfusion and glucose hypometabolism, two of the dominant causes of symptomatic HM, may be associated with the accumulation of eosinophilic hyaline inclusions that cause NIID. However, the existence of inclusions may also alter neuronal behavior and indirectly cause cerebral hypoperfusion and glucose hypometabolism. Further research andobservations are needed to examine the relationship between HM and NIID. Key words: hemiplegic migraine, sporadic hemiplegic migraine, neuronal intranuclear inclusion disease Abbreviations: CNS central nervous system, CSF cerebrospinal fluid, CT computed tomography, DWI diffusion-weighted imaging, EEG electroencephalography, FHM familial hemiplegic migraine, HM hemiplegic migraine, ICHD International Classification of Headache Disorders, MRA magnetic resonance angiography, MRI magnetic resonance imaging, NIID neuronal intranuclear inclusion disease, PET positron emission tomography, PWI perfusion-weighted imaging, SHM sporadic hemiplegic migraine, SWI susceptibility weighted imaging (Headache 2020;60:382-395) Headache

The Value of NOTCH2NLC Gene Detection and Skin Biopsy in the Diagnosis of Neuronal Intranuclear Inclusion Disease

“…Among the five patients with NIID, four showed typical highintensity signals on DWI in the corticomedullary junction (4/5, 80%) (Figure 1A), five showed bilateral paraventricular white matter hyperintensity on T2 FLAIR (5/5, 100%) (Figure 1B), four showed enlarged ventricles (4/5, 80%) (Figure 1C), two showed T2 FLAIR hyperintensity areas in cerebral pontine (2/5, 40%) (Figure 1D), and one showed T2 FLAIR hyperintensity areas in the middle cerebellar peduncles (MCP sign) (1/5, 20%) (Figure 1D). One case of NIID showed decreased glucose metabolism in the left frontal lobe, right parietal lobe, and bilateral ventricular anterior and posterior horns upon 18 F-FDG PET-CT (Figures 1E,F), which is consistent with the high signal range of corticomedullary junction on DWI.…”

“…Among our patients, two patients even consulted the doctor with headache as the earliest and main clinical symptom. Hemiplegic migraine was once reported as rare clinical manifestations in 2019, no other types of headache were reported yet (18)(19)(20). However, the previous literature rarely included headache among the common symptoms of NIID.…”

“…NIID should be considered as one cause of headache. We also performed 18 F-FDG PET-CT scan on one patient with NIID. This patient's 18 F-FDG PET-CT results showed decreased metabolism in the left frontal lobe, right parietal lobe, and bilateral ventricular anterior and posterior horns, and these results were consistent with the high signal range on DWI of her previous MRI and the only one PET study on NIID patient in 2019 (21).…”

“…Positron Emission Tomography-Computed Tomography and 3.0T MRI 18 F-FDG PET-CT and 3.0 T-head MRI scans were performed in the MRI Department and PET Center of the First Affiliated Hospital of Zhengzhou University, respectively. MRI scans included T1-weighted sequence, T2-weighted sequence, T2 FLAIR sequence, and DWI.…”

Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation

“…As far as we know, VM has never been described in the patients with NIID, although other subtypes of migraine have been reported previously. Wang described a juvenile NIID patient who developed probable migraine without aura, migraine with aura, and hemiplegic migraine before episodic encephalopathy [ 8 ]. Liang reported a 35-year-old female patient with NIID who presented with migraine with aura as an initial symptom [ 6 ].…”