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.

Is vestibular rehabilitation as effective in bilateral vestibular dysfunction as in unilateral vestibular dysfunction?

BACKGROUND: Bilateral vestibular dysfunction causes serious disabilities and handicaps. Patients with bilateral dysfunction often restrict their activities and tend to be unsocial. AIM: To compare the effects of vestibular rehabilitation on disability, balance, and postural stability in patients with unilateral and bilateral vestibular dysfunction. DESIGN: Retrospective study. SETTING: Outpatient rehabilitation center. POPULATION: Patients with unilateral (group 1, N.=42) and bilateral vestibular dysfunction (group 2, N.=19). METHODS: All patients were evaluated before and after eight weeks of customized vestibular rehabilitation for disability (Dizziness Handicap Inventory [DHI], Activities-specific Balance Confidence Scale [ABC]), dynamic balance (Timed Up and Go Test [TUG], Dynamic Gait Index [DGI]), and postural stability (static posturography). RESULTS: The differences between DHI, TUG, DGI, and falling index (as assessed by static posturography) scores before and after the exercise program were statistically significant in both groups (P<0.05). There were no significant intergroup differences in any of the parameters evaluated (P>0.05). CONCLUSION: In this study, vestibular rehabilitation was found to be equally effective in unilateral and bilateral vestibular dysfunction patients for improving disability, dynamic balance, and postural stability. CLINICAL REHABILITATION IMPACT: Patients with bilateral dysfunction, causing more disability and greater handicap may indeed regain their functions as in patients with unilateral vestibular dysfunction by receiving appropriate and adequate vestibular rehabilitation.

Headache in primary Sjögren's syndrome: a prevalence study.

OBJECTIVES: To determine the prevalence of headache in patients with primary Sjögren's syndrome (pSS) and to examine the relationship between headache types and clinical, serologic features of the disease. METHODS: The study enclosed 133 patients with the diagnoses of pSS and 97 healthy controls. A questionnaire designed to assess the presence of headache and if present to classify it according to the criteria of the International Headache Society was used. RESULTS: In 133 of the pSS patients evaluated, 104 had headache. No association was present between types of headache and the clinical and laboratory manifestations of the disease. Both migraine and tension-type headache were more common in patients with pSS when compared with healthy controls (P < 0.001). CONCLUSIONS: The high prevalence of migraine in pSS patients might be explained by a vascular headache triggered by immuno-mediated disease activity without an obvious clinic or laboratory marker.

Migrainous vertigo: clinical, oculographic and posturographic findings.

Migrainous vertigo (MV) is accepted as a common cause of episodic vertigo. The peripheral or central vestibular localization of the deficit as well as the pathophysiology is unclear. This prospective study was designed to assess the clinical features of MV and to search for the localization of the vestibular pathology. Thirty-five patients with MV, 20 patients with migraine and 20 healthy volunteers were studied. Comprehensive neurotological tests were performed between attacks. None of the normal controls or the patients with migraine had ocular motor deficits or caloric test abnormalities. Three patients in the MV group showed saccadic pursuit (8.6%), in one of whom saccadic hypometria was also present. Caloric test results revealed unilateral caloric hypofunction in seven patients (20%). Static posturography results revealed increased sway velocity when the eyes were closed or the platform was distorted in patients with MV. These findings during the symptom-free period revealed that peripheral vestibular dysfunction was more common than a central deficit.

Treatment of idiopathic intracranial hypertension: topiramate vs acetazolamide, an open-label study.

OBJECTIVES - To assess the efficacy of topiramate in the treatment of idiopathic intracranial hypertension (IIH) and to compare it with acetazolamide. METHODS - Fourty patients diagnosed as IIH and randomly assigned to treatment with either acetazolamide or topiramate were assessed prospectively. Improvement in the visual fields at the end of third, sixth and twelfth months were taken into consideration. RESULTS - The demographic, clinical features and the cerebrospinal fluid (CSF) pressure of the two treatment groups were similar at the beginning of the study. When the follow-up visual field grades were compared with the visual field grades at the beginning of the study in each group a statistically significant improvement was detected with both drugs. When the results of the two treatment groups were compared with each other no statistically significant difference was present. Prominent weight loss was recorded in the topiramate group. CONCLUSIONS - Topiramate seems to be effective in the treatment of IIH. Weight reduction as well as the reduction of the CSF formation is the possible mechanism of action.

Subclinical neurological abnormalities in children with celiac disease receiving a gluten-free diet.

OBJECTIVES: Because clinically evident manifestations are frequent in adults with celiac disease (CD), we aimed to investigate whether early neurological abnormalities may be detected in children with CD. METHODS: Electroencephalography, electromyography, and somatosensory evoked potentials were performed in children with CD receiving a gluten-free diet. RESULTS: The neurophysiological tests revealed subclinical neurological abnormalities associated with CD in 3 (11%) of 27 children: 2 had peripheral polyneuropathy documented with electromyography, and 1 had prolonged latencies in somatosensory evoked potential. Magnetic resonance imaging showed abnormalities in 2 (7.4%) of children: pontine demyelinization in 1 and cortical atrophy in the other. CONCLUSIONS: Because the rate of neurological problems is increased in children with CD, neurological abnormalities should be carefully investigated early after the diagnosis of CD is made.

Pseudotumor cerebri: etiological factors, presenting features and prognosis in the western part of Turkey.

OBJECTIVES: Pseudotumor cerebri (PC) is a clinical condition characterized by signs and symptoms of increased intracranial pressure, such as headache and papilledema. MATERIAL AND METHOD: A total of 62 patients diagnosed with PC, who were on follow-up for a period ranging from 4 to 60 months, were investigated retrograde from 1990 to 1998 and then anterograde from 1998 to 2001 to find out the etiological factors, symptoms and signs and the prognosis in the western part of Turkey. RESULTS: There were 47 (76%) women and 15 (24%) men. The age of onset of symptoms was 32.7 +/- 9.9 (range 18-56) years. Obesity was found in only 17 (30%) of them. There were eight patients (13%) with venous sinus thrombosis causing PC. Five patients (8%) had Behçet's disease. The most common symptom was headache, recorded in 93% of the patients, which was followed by transient visual obscurations (60%). Snellen visual acuity was disturbed in 17 patients (27%) at the initial visit. Visual loss determined by automated perimetry was present in 71% of the cases. Three patients (3%) became blind in both eyes. Of the 62 patients, 41 were on follow-up during the study. Twenty-one (51%) showed regression of the visual field grade, nine patients (22%) worsened and 11 (27%) were stationary. CONCLUSION: Obesity was not as frequent as reported in western countries but Behçet's disease was found to be a frequent cause. Perimetry was the most reliable method to follow-up the patients.

Trigeminocervical reflexes elicited by stimulation of the infraorbital nerve: head retraction reflex.

In the current study, the effects of stimulation of the infraorbital nerve (ION) on the trigeminocervical reflexes (TCRs), recorded from the posterior neck muscles, was investigated and the results were compared with the results recorded by stimulation of the supraorbital nerve (SON). TCRs obtained by stimulation of the ION was evaluated as the electrophysiologic counterpart of the head retraction reflex. Twenty normal control subjects, 10 men and 10 women, were enrolled in the study. The SON and the ION were stimulated by using a bipolar surface electrode. Results were recorded by using either concentric needle electrodes inserted into the semispinalis capitis muscle at the level of the third or fourth cervical vertebra or by surface electrodes placed at the C3 and C7 vertebrae on the midline. It was found that stimulation of the supraorbital and infraorbital branches of the trigeminal nerve had different reflexive effects on the posterior neck muscles. A stable positive (or negative-positive) wave, with a very early latency and high amplitude was always recorded after maximal stimulation of the ION, which could never be detected by stimulation of the SON. The C3 response of the TCR, evoked by SON stimulation was always evoked, by stimulation of the ION, at a low threshold. These findings suggest that the head retraction reflex is composed of two phases: inhibitory and excitatory. The early, fixed positive wave represents the general inhibition of the cranial and neck muscles, just before withdrawal of the face and head, from unexpected stimuli, which precedes the dense C3 response, demonstrating activation of the posterior neck muscles.

Intracranial venous thrombosis associated with severe antithrombin-III deficiency in pregnancy.

We report a patient with intracranial venous thrombosis in the third trimester of pregnancy associated with severe antithrombin-III deficiency. The evaluation of protein C, protein S and antithrombin-III levels in patients with thrombotic events during pregnancy may reveal the specific cause of the thrombotic event and thereby influence patient management

Corneal reflex and blink reflex changes in thalamic hemorrhage.

We studied the corneal reflex (CR) with air-puff and direct touch by using a standardized method in patients with thalamic hemorrhage (TH) (n: 15) and in normal control subjects (n: 21). The conventional blink reflex (BR) was also studied. In the TH group: 1--When the cornea on the clinically nonaffected side was stimulated the corneal reflex responses were elicited bilaterally, with normal latency on the clinically normal side and delayed on the affected side. 2--When the cornea on the clinically affected side was stimulated, the corneal responses on both sides were either abnormal or could not be elicited. 3--The ipsilateral R1 and R2 responses recorded by stimulation of the supraorbital nerve on the clinically affected side were abnormal where the contralateral R2 responses were in the normal range. In the normal control and TH groups: 1--No statistical difference could be detected between the responses elicited by air-puff or direct touch to cornea (p > 0.05). 2--CR responses were statistically different from the R2 response of the BR (p < 0.005).

Analysis of the corneal reflex with air puff: normal controls and patient groups.

Though there are several reports published about the corneal reflex elicited by different methods, a standardized electrophysiologic study with air puff in man has not been published. The aim of this study is to standardize the corneal reflex elicited by air puff to cornea. The authors studied the corneal reflex with air puff and direct touch by using a standardized method in patients with thalamic hemorrhage (n = 15), hemispheric infarction (n = 9), brainstem infarction (n = 9), multiple sclerosis (n = 12), and Bell's palsy (n = 12) and in normal control subjects (n = 21). The conventional blink reflex (BR) was also studied. The reflex responses were recorded from both orbicularis oculi muscles by air puff and direct touch to cornea in addition to the electrical stimulation of the supraorbital nerve. No statistical difference could be detected between the responses elicited by air puff or direct touch to cornea (P > 0.05). Corneal reflex responses were statistically different from the R2 response of the BR (P < 0.005). Because the responses elicited by direct touch and air puff to cornea are identical, air puff to cornea can be used confidently to study the corneal reflex.

Neuropsychologic sequelae in the long-term survivors of childhood acute lymphoblastic leukemia.

The neurotoxicity of either systemic chemotherapy or central nervous system prophylaxis was studied in 19 children treated for acute lymphoblastic leukemia (ALL). They had completed ALL therapy at least a year before and survived more than 5 years after diagnosis. The duration between age at diagnosis and age at investigation was 8.6 +/- 2.7 years (5-15 years). Neuropsychologic tests, cranial magnetic resonance imaging (MRI), and evoked potentials (EP) were studied. Seventeen healthy siblings were taken as a control group. Emotional evaluation was done using the childhood depression inventory and Beck depression inventory. Cognitive functions were evaluated using Wechsler's Intelligence Scale for Children-Revised (WISC-R) or the Wechsler's Adult Intelligence Scale-Revised (WAIS-R) tests, which were adapted to Turkish children. Performance and total IQ scores (94.0 +/- 16.8 and 92.2 +/- 16.5) were significantly low as compared to the control group (112.1 +/- 18.9 and 105.4 +/- 14.2) (p = .007 and p = .02). Abnormal MRI findings were found in 33.3% (6/18). Three out of 18 patients (16.6%) had abnormal auditory while 5 out of 17 patients (29.5%) displayed abnormal visual EPs. Abnormal findings in MRI, cognitive examination, and electrophysiologic testing were not associated with age at diagnosis, radiotherapy doses, intermediate/high-dose systemic methotrexate administration or central nervous system involvement. But more patients must be studied to demonstrate discrete outcomes of neurotoxicity in long-term survivors of childhood leukemia.

Continuous muscle fibre activity: a case treated with acetazolamide.

A case is reported of the continuous muscle fibre activity syndrome, which includes a group of disorders characterised by sustained motor unit activity due to hyperactivity of peripheral nerve motor axons. In this patient the muscle stiffness and myokymic movements were successfully treated with acetazolamide, which acts as a membrane stabiliser either by blockade of chloride and bicarbonate membrane transport or by producing kaliuresis and raising the transmembrane potential by decreasing extracellular potassium.

Aprotinin reduces injury of the spinal cord in transient ischemia.

OBJECTIVE: The protective effect of aprotinin, which is a protease inhibitor, was assessed in a rabbit spinal cord ischemia model. DESIGN: Randomized, controlled, prospective study. SETTING: University research laboratory. SUBJECTS: New Zealand white rabbits (36) of both sexes. METHODS: In 24 animals, ischemia was induced with midline laparotomy and clamping the aorta just distal to left renal artery and proximal to aortic bifurcation for 20 min. Aprotinin was given 30000 KIU as a short intravenous injection after anesthesia, and was followed by 10000 KIU/h by continuous infusion in group 1 (n = 12). Similar volume of saline solution was used in control group of animals (group 2, n = 12). Group 3 of animals (sham group, n = 12) were anesthetized and subjected to laparotomy without aortic occlusion. Physiological parameters and somatosensory evoked-potentials (SEP) were monitored in animals before ischemia, during ischemia and in the first 60 min of reperfusion. Their neurological outcome was clinically evaluated up to 48 h postischemia. Their motor function was scored, and the intergroup differences were compared. The animals were sacrificed after two days of postischemia. Their spinal cord, abdominal aorta, and its branches were processed for histopathological examination. RESULTS: In group 3, SEP amplitudes did not change during the procedures, and all animals recovered without neurologic deficits. At the end of ischemic period, the average amplitude was reduced to 53+/-7% of the baseline in all ischemic animals. This was followed by a gradual return to 89+/-8 and 81+/-13% of the initial amplitude after 60 min of reperfusion in group 1 and group 2 correspondingly (P > 0.05). The average motor function score was significantly higher in group 1 than group 2 at 24 and 48 h after the ischemic insult (P < 0.05). Histological observations were clearly correlated with the neurological findings. CONCLUSION: The results suggest that aprotinin reduces spinal cord injury and preserves neurologic function in transient spinal cord ischemia in rabbits.

Trigemino-cervical reflexes in normal subjects.

Trigemino-cervical reflexes, recorded from the semispinalis capitis muscle (SCM) in the posterior neck, were studied in 35 healthy volunteers, in response to electrical stimulation of the supraorbital trigeminal nerve and glabellar tapping. Simultaneous responses evoked from the ipsilateral orbicularis oculi muscle (OOM) were also recorded i.e. blink reflexes. Electrical stimulation of the supraorbital nerve elicited a reflex response with a latency of about 50 ms from the ipsilateral SCM which was called C3. An early reflex response, which sometimes had two components with latencies of 18 ms and 35 ms, was elicited with glabellar taps. They were called C1 and C2 respectively. When C1 and C2 were elicited with usual glabellar taps, C3 was suppressed. With electrical stimulation, suppression of C1 and C2 was noted, though C3 could easily be obtained. Electrophysiological characteristics of C1 (and C2) were compatible with an oligosynaptic, innocuous reflex, whereas C3 seemed to be multisynaptic and nociceptive in nature. A negative interaction between these two reflexes was observed.