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Background and Aims

Stroke is one of the leading causes of disability and mortality included in young adult. Nephrotic syndrome is one of the predisposition factors for cerebral ischemia especially in young adult patients.This report aims to describe that long-time nephrotic syndrome can cause the small vessels occlusive disease in young adult with ischemic stroke.

Methods

We report a case of a young adult 33-year-old male with sudden right hemiparesis who has been hospitalized after five days of low dose metilprednisolon treatening and diagnosed with nephrotic syndrome for ten years.

Results

Right hemiparesis, generalized edema, proteinuria (3 g/d), hypoalbuminemia (1.21 g/dL), dyslipidemia (total cholesterol 355 mg/dL, LDL cholestesrol 283 mg/dL, HDL cholesterol 42 mg/dL, tryglicerides 241 mg/dL) are founded in this case. We present ischemic stroke in a young adult patient with nephrotic syndrome and multiple lesions located in the subcortical structure as lacunar infarct at left internal capsule.

Conclusions

Atherosclerosis can be linked to dysregulated lipid metabolism, dyslipidemia and fat accumulation due to ischemic stroke in nephrotic syndrome. An appropriate and comprehensive managements are needed to treat the case of ischemic stroke in nephrotic syndrome

Background and Aims

It presents a combination of ipsilateral conjugate horizontal gaze palsy (one) and ipsilateral internuclear ophthalmoplegia (INO) (a half). On the basis of the one-and-a-half syndrome, there are a series of related rare syndromes called the one-and-a-half syndrome spectrum disorders.

AIMS: We present a retrospective study of 15 cases admitted to our tertiary center. Our aim is to evaluate varied presentation of one and half syndrome and to correlate these with neuroimaging.

Methods

Patients diagnosed with one and half syndrome in the neurology department of tertiary care center between September 2021 to February 2022

Results

There was a predominance of middle aged men presenting at 58.4 years of age (range 34 -78). Atherosclerosis and hypertension were the main risk factors. The commonest finding on physical examination was ocular abnormality and facial palsy. Out of 18 cases, 6 presented with one and half syndrome(MLF+PPRF), 3 Presented with eight and half syndrome( one and half + seventh nerve falsy), 3 presented with nine syndrome(one and half + seventh cranial nerve+ hemi hypesthesia), 2 presented with thirteen and half syndrome ( eight and half + fifth cranial nerve), 2 presented with fifteen and half syndrome (one and half + bilateral seventh nerve palsy), 1 presented with twenty and half syndrome(one and half syndrome+bilateral facial nerve palsy+fifth nerve palsy), 1 presented with twenty four syndrome(eight nerve palsy + bilateral facial nerve palsy+bilateral horizontal gaze palsy).

Conclusions

One and half syndrome spectrum disorders May Present With Atypical Clinical Findings Due To Variation In The Involvement Of Neuroanatomical Structures.

Background and Aims

Seesaw nystagmus is a conjugate torsional nystagmus with dissociated vertical components. The waveform may be pendular or jerk, in which case the slow phase corresponds to one half-cycle and the quick phase to the other. We report a patient with unilateral meso-diencephalic infarction showing transient hemi-seesaw nystagmus.

Methods

A 36-year-old man presented with acute visual disturbance, dizziness and dysarthria. He had a history of arrhythmogenic right ventricular dysplasia. On examinations, there was an upward and downward gaze palsy that could be overcome by the doll's head maneuver. Horzontal gaze was intact and pupils were equal and reactive to the right.

Results

Eye movement recording using video-oculography showed hemi-seesaw nystagmus consisting of intorsional upbeat nystagmus in the right eye synchronous with extorsional downbeat nystagmus in the left eye. The slow phases of the vertical and torsional components mostly had exponentially decreasing waveforms and the nystagmus was completely suppressed in darkness. The testing of the subjective visual vertical revealed no tilt, and fundus photography did not show ocular torsion in both eyes. MRI of the brain exhibited an acute infarction at the left medial thalamus and upper midbrain. Due to the presence of atrial fibrillation on an electrocardiogram, he was treated with an oral anticoagulant. The hemi-seesaw nystagmus resovled a day later.

Conclusions

Given exponentially decreasing waveforms of the slow phases and absent ocular tilt reaction, hemi-seesaw nystagmus in our patient may be ascribed to unilateral impairment of the interstitial nucleus of Cajal with sparing of adjacent rostral interstitial nucelus of the medial longitudinal fasciculus.

Background and Aims

Dissociated torsional-upbeat nystagmus has been mainly reported in INO involving the MLF. It may be explained by a disruption of VOR pathways from vertical semicircular canal within the MLF, but it is debatable. We described a patient with vestibular nucleus infarction showing dissociated torsional-upbeat nystagmus without involvement of MLF.

Methods

A 71-year-old man with diabetes mellitus developed acute vertigo, imbalance, and dysarthria. Neurological examination 2 hours after symptom onset showed a leftward head tilt, skew deviation with left hypotropia, and body lateropulsion to the left side.

Results

Eye movement recording using three-dimensional video-oculography showed a rightward torsional nystagmus with asymmetrical upbeat component. The intensity of torsional nystagmus was greater in the hypertropic right eye, while upbeat nystagmus was present only in the hypotropic left eye. Horizontal gaze-evoked nystagmus was present. Video HIT showed predominantly decreased VOR gain for left horizontal canal plane. In addition, the VOR gains for both vertical canals were slightly impaired with corrective catch-up saccades. Testing of SVV revealed leftward tilt and fundus photography showed counter-clockwise torsion of the left eye. Bone-conducted ocular VEMP exhibited no response during left ear stimulation. Follow-up diffusion-weighted MRIs 2 days later disclosed a small acute infarction restricted to the left vestibular nucleus. He was treated with antiplatelet medication, and the vertigo and imbalance resolved within 6 days of symptom onset.

Conclusions

This is the first case showing dissociated torsional-upbeat nystagmus associated with vestibular nucleus infarction. It may be ascribed to damage of the neural pathways from vertical semicircular canal or utricle within the vestibular nucleus.

Background and Aims

COL4A1 gene (COL4A1) mutations have recently been identified as the cause of cerebral small vessel disease; most cases present with porencephaly, leukoencephalopathy, and intracerebral hemorrhage (ICH) from the neonatal stage to childhood. However, in recent years, there have been reports of ICH cases that have developed after adolescence with this gene mutation. In this report, we describe a three-generation family history of a previously unreported COL4A1 mutation in patients with post-adolescent ICH and leukoencephalopathy.

Methods

The proband was a 19-year-old man with no history of hypertension, who displayed sudden onset of right hemiplegia. MRI revealed a left subcortical ICH and leukoencephalopathy. His grandmother suffered an ICH and had leukoencephalopathy at age 38; his aunt suffered the same at age 18. Although his mother did not develop an ICH, she had leukoencephalopathy.

Results

Comprehensive genetic analysis of the proband revealed a mutation in COL4A1: c.3797G>A, p.Gly1266Asp (heterozygotes), which has not been previously reported. The same mutation was identified in the proband’s grandmother and mother. A search for the mutation in the aunt is currently underway.

Conclusions

In case of a family history of ICH and leukoencephalopathy, the COL4A1 mutation should be considered. COL4A1 mutations occur at multiple sites, and the age of onset and symptoms are diverse. The family reported herein may show various phenotypes, and it is necessary to examine the mutation sites and symptom expression patterns..

Background and Aims

The role of genetics is gaining importance in stroke.We are reporting a case of COL4A1 mutations as monogenic cause of cerebral small vessel disease.

Methods

A 32 years old lady presented with headache and altered mental status in March 2017.She was treated as meningoencephalitis with a lumbar puncture done which was normal.Initial CT(computed tomography) brain showed multiple ill defined subcortical hypo densities at bilateral parietal region.She subsequently presented with right sided hemiparesis in July 2018 whereby she was extensively investigated for young stroke.Repeated CT brain showed unchanged multiple subcortical hypodensities.Ultrasound carotid doppler revealed left common carotid artery(CCA) stenosis.Cerebral angiogram showed left common carotid artery stenosis with small right PCOM(Posterior communicating artery)aneurysm.MRI brain was suggestive of CADASIL(Cerebral Autosomal Dominant Arteriopathy with subcortical infarcts&Leukoencephalopathy).However the NOTCH3 gene was negative.Connective tissue and thrombophilia screening was normal.Echocardiogram and CT coronary was normal.She subsequently developed bilateral sensorineural hearing impairment together with bilateral painless blurring of vision.Ophthalmology assessment revealed serpiginous choroidopathy.CT thorax revealed no hilar lymphadenopathy.Serum ACE(Angiotensin Converting Enzyme) was normal.

Results

Repeated MRI brain in 2020 revealed white matter changes of both fronto-parietal region, insignificant short segment luminal stenosis of left CCA with bilateral basal ganglia calcifications.A genetic consultation was done whereby whole exome sequencing revealed a variant of uncertain significance(VUS)13-110835579-G-CNM_001845.5:c.1942C>G(NP_001836.3:p.Pro648Ala) in the COL4A1 gene.

Conclusions

In summary, the VUS identified in COL4A1 gene that explains the patient's phenotype is likely pathogenic.

Background and Aims

The deep medullary veins (DMVs) score may be a novel imaging biomarker for cognitive impairment related to cerebral small vessel disease (CSVD). However, this use lacks validation and a mechanistic explanation. We aimed to investigate whether the DMVs score is related to white matter hyperintensity (WMH) and cognitive impairment

Methods

We included 108 patients with CSVD and evaluated their cognitive function using the Montreal cognitive assessment (MoCA) scale. Disruption of the DMVs was assessed based on susceptibility-weighted imaging (SWI) using a graded visual rating scale. Neuroimaging markers including WMH, lacunar infarcts (LI), cerebral microbleeds (CMB), and brain atrophy were quantitatively assessed using the AccuBrain system. The interaction terms were investigated using mediation analyses.

Results

The DMVs score was directly associated with global cognitive impairment (r=0.36, p＜0.001), memory function impairment (r=0.33, P = 0.001), and language function impairment (r=0.39, P＜0.001) and correlated with increased WMH volume (r=0.49, p＜0.001). After adjusting for age, sex, and education, the indirect effect of DMVs score on global cognitive impairment, attention, and executive function impairment were found to be mediated by WMH volume.

Conclusions

Therefore, the disruption of DMVs may lead to cognitive impairment through a mediating effect of WMH.