CEREBRAL VENOUS THROMBOSIS AND TURNER SYNDROME: A RARE REPORTED ASSOCIATION.

Turner Syndrome is the only known viable chromosomal monosomy, characterised by the complete or partial absence of an X chromosome. It's the most common chromosomal abnormality in females. Apart from the well known dysmorphic features of the syndrome, it has been associated with a number of vascular pathologies; mainly involving the cardiovascular, renovascular, peripheral vascular and cerebrovascular system. It seems striking that thromboembolism is not considered as a feature of the syndrome. Most of the thromboembolism cases are related to the arterial vascular system; except for some rare reported portal venous thrombosis cases, peripheral venous thrombosis cases and to the best of our knowledge a single case of cerebral venous thrombosis with Dandy Walker malformation and polymicrogyria. We herein report a cerebral venous thrombosis case with Turner Syndrome. With no other found underlying etiology, we want to highlight that Turner Syndrome, itself, may have a relationship not only with the cerebral arterial vascular system pathologies but also with the cerebral venous thrombosis.

Exercise with vibration dumb-bell enhances neuromuscular excitability measured using TMS.

AIM: The purpose of the study was to examine the effects of exercise without vibration and exercise with vibration (27 Hz) on the cortical silent period (CSP) and cortical motor threshold (CMT) measured using transcranial magnetic stimulation (TMS). METHODS: In 22 university athletes, a circular coil attached to a TMS stimulator was applied over the contralateral motor cortex of the target forearm. Resting cortical motor thresholds for dominant and non-dominant extremities were measured for each participant. Then, 15 biceps curls (15 flexion and 15 extension movements) were performed with the dominant arm using a single vibration dumbbell with the vibration turned off. On a different day, the same biceps curl protocol was performed with the dumbbell vibrating at 27 Hz (2 mm amplitude). A supra-threshold TMS stimulus (1.5x CMT) was delivered while participants were voluntarily contracting the flexor digitorum sublimus muscle (30% MVC grip strength) to determine cortical silent periods before and after each upper extremity exercise protocol. Cortical motor thresholds were measured at rest and after the vibration exercise protocol. RESULTS: All subjects completed the study protocol as designed. After TMS, the CSP in the dominant (exercised) extremities increased after exercise without vibration from a resting (pre-exercise) mean of 57.3 ms to 70.4 ms (P<0.05) and after exercise with vibration, the CSP decreased to a mean of 49.4 ms (P<0.02). The CSP in the non-dominant (unexercised) extremities decreased from resting values of 75.6 ms to 69.3 ms (P=0.935) after the exercise-only protocol and decreased to 49.4 ms (P<0.01) after the vibration exercise protocol. The cortical motor threshold in exercised extremities decreased from a resting mean of 41.4 µV to a postvibration exercise mean of 38.6 µV (P<0.01). In non-exercised extremities, the CMT also decreased, from mean of 43.5 µV to 39.9 µV after the vibration-exercise (P<0.01). CONCLUSION: Vibration exercise enhances bilateral corticospinal excitability, as demonstrated by a shortened cortical silent period and lower cortical motor threshold in both exercised and non-exercised extremities.

Facial motor cortex plasticity in patients with unilateral peripheral facial paralysis.

Hand motor representation area expands towards the area of the perioral facial motor cortex in patients with peripheral facial paralysis (PFP) and in hemifacial spasm cases treated with botulinum toxin. In this current study, we aimed to investigate the changes both in the ipsilateral and contralateral facial motor cortex areas in patients with PFP with transcranial magnetic stimulation (TMS). Thirty healthy individuals and 41 patients with unilateral PFP with partial or total axonal degeneration participated in this study. Motor evoked potentials (MEPs) of perioral muscles elicited by TMS of the intracranial portion of the facial nerve and motor cortex, were recorded. TMS was delivered through a figure-of-eight coil. Mapping of the cortical representation of perioral muscles were also studied in 13 of 41 patients and in 10 of control subjects. Mean amplitude of the intact perioral MEPs elicited by the ipsilateral hemisphere TMS, was significantly higher in patients than the control subjects. There was also a mild enlargement of the mean cortical representation area of intact perioral muscles on both hemispheres though it was not significant. We have concluded that there was a cortical reorganization in the hemisphere contralateral to the paralytic side resulting in an increase at corticofugal output related to intact perioral muscles.

Cerebral cortical and deep venous thrombosis without sinus thrombosis: clinical MRI correlates.

BACKGROUND: Cortical and/or deep vein thrombosis (CDVT) without dural sinus involvement is uncommon and presents diagnostic difficulty for many reasons. Our aim is to determine the relationship between magnetic resonance imaging (MRI) findings and clinical findings in patients with CDVT. METHODS: Forty-six patients with venous stroke proved on MRI included in our Registry, corresponding to 0.1% of 4650 patients with stroke, were studied. Magnetic resonance angiography (MRA) was performed in all patients, and 18 of them had follow-up MRA. Outcome was evaluated by using the Glasgow Outcome Scale at the time of discharge and during follow-up. RESULTS: Thirty-two patients presented cortical venous stroke; 21 of them had involvement of the dorsomedial venous system, six had a defect in the posteroinferior venous group, and five had a defect in the anteroinferior venous group. Thirteen patients presented simultaneous involvement of the superficial and deep venous system; seven with a defect in the parietal and internal cerebral veins (three with involvement of vein of Gallen), four with a defect in the temporooccipital (vein of Labbé) and basal vein of Rosenthal, two with a deficit in the anterior frontotemporal and uncal-pterygoid venous system. One patient had deep venous thrombosis primarily localized to the thalami bilaterally and the basal ganglia on the right because of occlusion of the thalamostriate veins. The main presenting symptoms of CDVT were headache, focal neurologic signs, partial complex or secondary generalized seizures, and consciousness disturbances in those with deep venous thrombosis, presented alone or in combination at onset. CDVT was more than twofold more frequent in women than in men. Pregnancy, puerperium, oral contraceptive use, and infections were the most common predisposing factors. CONCLUSION: Computerized tomography, conventional MRI and diffusion-weighted imaging showing ischemic and/or hemorrhagic lesion that does not follow the boundary of classical arterial boundaries without signs of sinus thrombosis, and partial or generalized seizures followed by focal neurologic signs may predict CDVT. The outcome of patients with cortical venous stroke was good, but not in those with cortical plus deep venous infarction.

Central and peripheral motor conduction to cremasteric muscle.

The few electrophysiologic studies of the cremasteric muscle (CM) have mainly been restricted to the cremaster reflex with no reference to central and peripheral nerve conduction to the muscle, probably for technical reasons.Twenty-six normal adult male volunteers were studied by transcranial magnetic cortical stimulation (TMS) and stimulation of thoracolumbar roots. The genitofemoral nerve (GFN) was stimulated electrically at the anterior superior iliac spine and a needle electrode was inserted into the CM for conduction studies. The motor latency to the CM from the cortical TMS ranged from 20 to 33 ms among the subjects (25.8 +/- 2.9 ms, mean +/- SD). Magnetic stimulation of the lumbar roots produced a motor response of the CM within 9.6 +/- 1.9 ms (range, 6-15). The central motor conduction time to the CM was 16.5 +/- 2.8 ms (range, 10-21). Stimulation of the GFN produced a compound muscle action potential with a mean value of 6.4 +/- 1.8 (range, 4-10) ms in 23 of the 26 cases. Thus, central motor nerve fibers to the CM motor neurons exist, and there may be a representation area for the CM in the cerebral cortex. The GFN motor conduction time to the CM may have clinical utility, such as in the evaluation of the groin pain due to surgical procedures in the lower abdomen.