A case report of Tangier disease presents with acute sensorimotor polyneuropathy and its treatment approach.

Polyneuropathy is a frequently encountered clinical presentation where peripheral nerves are affected due to the same cause and physiopathological processes. We report a case of acute sensorimotor polyneuropathy in a patient with Tangier disease (TD) who was treated with miglustat which is a glycosphingolipid synthesis inhibitor. TD is a very rare genetic disorder caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene which encodes the cholesterol efflux regulatory protein. It leads to accumulation of cholesterol esters within various tissues and affects lipid metabolism by deficiency of high-density lipoprotein (HDL) in the blood. Due to the accumulation of cholesterol esters in Schwann cells, it could provoke polyneuropathy in TD. Our case presented to our clinic with quadriparesis and after treated with miglustat therapy his weakness regressed.

Creutzfeldt-Jakob Disease: A single center experience and systemic analysis of cases in Turkey.

Background and purpose: We aimed to analyze the clinical, laboratory and neuroimaging findings in patients with sporadic Creutzfeldt-Jakob disease (CJD) in a single center as well as to review other published cases in Turkey. Methods: Between January 1st, 2014 and June 31st, 2017, all CJD cases were evaluated based on clinical findings, differential diagnosis, the previous misdiagnosis, electroencephalography (EEG), cerebrospinal fluid and cranial magnetic resonance imaging (MRI) findings in our center. All published cases in Turkey between 2005-2018 were also reviewed. Results: In a total of 13 patients, progressive cognitive decline was the most common presenting symptom. Two patients had a diagnosis of Heidenhain variant, 1 patient had a diagnosis of Oppenheimer-Brownell variant. Seven patients (53.3%) had been misdiagnosed with depression, vascular dementia, normal pressure hydrocephalus or encephalitis. Eleven patients (87%) had typical MRI findings but only 5 of these were present at baseline. Asymmetrical high signal abnormalities on MRI were observed in 4 patients. Five patients (45.4%) had periodic spike wave complexes on EEG, all appeared during the follow-up. There were 74 published cases in Turkey bet-ween 2005 and 2018, with various clinical presentations. Conclusion: CJD has a variety of clinical features in our patient series as well as in cases reported in Turkey. Although progressive cognitive decline is the most common presenting symptom, unusual manifestations in early stages of the disease might cause misdiagnosis. Variant forms should be kept in mind in patients with isolated visual or cerebellar symptoms. MRI and EEG should be repeated during follow-up period if the clinical suspicion still exists.

Multiple Spontaneous Intracranial-Extracranial Arterial Dissections in a Patient with Osteogenesis Imperfecta.

A 40-year-old male with osteogenesis imperfecta (OI) was admitted to the hospital with an acute right monoparesis. Diffusion-weighted MRI showed infarction in the territory of the left anterior cerebral artery (ACA) and in the left posterior cerebral artery (PCA). In his vascular imaging, occlusion of the left vertebral artery (VA) starting from V2 segment was consistent with dissection and pseudoaneurysm in the right ACA. We presented this case because of the presence of spontaneous and simultaneous occurrence of both intracranial and extracranial arterial dissections in OI.

Evaluation of autonomic nervous system function in children with overactive bladder syndrome.

PURPOSE: We aimed to evaluate the autonomic nervous system activity in children with overactive bladder (OAB) syndrome. METHODS: Included in the study were 40 children with overactive bladder and 28 healthy controls. Autonomic tests were performed on all participants, including heart rate interval variation (RRIV), heart rate response to valsalva maneuver, and sympathetic skin response (SSR). RESULTS: Mean valsalva rates in the overactive bladder and control groups were 1.53 ± 0.29 and 1.30 ± 0.18, respectively, a statistically significant difference (P < 0.001). Also significantly different were deep breathing RRIV values of the study and control groups: 56.65 ± 14.66 and 47.92 ± 10.15, respectively (P = 0.008). No statistical differences were found in SSR when OAB patients were compared with controls (P > 0.05). CONCLUSIONS: This study demonstrated a parasympathetic hyperactivity in children with OAB, results suggesting a dysfunction in their autonomic nervous systems. Neurourol. Urodynam. 36:673-676, 2017. © 2016 Wiley Periodicals, Inc.

The evaluation of vitamin D levels in patients with carpal tunnel syndrome.

The aim of this study was to evaluate the relationship between 25-hydroxyvitamin D (25(OH)D) levels and carpal tunnel syndrome (CTS). 25(OH)D levels were checked in 108 consecutive patients with CTS symptoms and 52 healthy controls. All patients underwent nerve conduction studies and completed Boston Carpal Tunnel Questionnaire (BQ) symptom severity and functional status scales to quantify symptom severity, pain status and functional status. There were 57 patients with electrophysiological confirmed CTS (EP+ group) and 51 electrophysiological negative symptomatic patients (EP- group). 25(OH) D deficiency (25(OH)D < 20 ng/ml) was found in 96.1 % of EP- group, in 94.7 % of EP+ group and in 73.8 % of control group. 25(0H) D level was found significantly lower both in EP+ and EP- groups compared to control group (p = 0.006, p < 0.001, respectively). Although mean vitamin D level in EP- group was lower than EP+ group, statistically difference was not significant between EP+ and EP- groups (p = 0.182). BQ symptom severity and functional status scores and BQ pain sum score were not significantly different between EP+ and EP- groups. We found no correlation with 25(OH) D level for BQ symptom severity, functional status and pain sum scores. 25(OH) D deficiency is a common problem in patients with CTS symptoms. As evidenced by the present study, assessment of serum 25(OH)D is recommended in CTS patients even with electrophysiological negative results.

Restless Leg Syndrome/Willis-Ekbom disease in women with iron deficiency anemia.

BACKGROUND AND PURPOSE: Restless Leg Syndrome (RLS) also known as Willis-Ekbom Disease (WED) is a common condition associated with reduced quality of life and other medical conditions, particularly cardiovascular diseases. Despite its common occurrence, it is widely underdiagnosed and undertreated. Therefore, identification of high-risk individuals for RLS/WED bears diagnostic and therapeutic significance. Iron deficiency anemia has a role in the pathophysiology of RLS/WED and both conditions have been reported to occur higher in females. In this study, the frequency of RLS/WED among women diagnosed with iron deficiency anemia was examined as well as laboratory variables that could guide the clinician in the diagnosis of RLS/WED. METHODS: A total of 51 women attending to the department of internal medicine with complaints of fatigue and tiredness and diagnosed as having iron deficiency anemia were evaluated using the International Restless Leg Syndrome Study Group (IRLSSG) diagnostic criteria for RLS. Laboratory variables were recorded. The severity of RLS/WED was assessed using the RLS rating scale in patients diagnosed with RLS/WED. RESULTS: RLS/WED was diagnosed in 41.1% of the women with iron deficiency anemia. There were no significant differences between women with or without RLS /WED in terms of laboratory variables. Also, no correlations were observed between disease severity and laboratory variables. CONCLUSION: There is an 8 to 10-fold increase in the incidence of RLS/WED among women with iron deficiency anemia as compared to general population. Therefore, a possible diagnosis of RLS/WED should be kept in mind in all women with iron deficiency anemia.

Electromyographic Evaluation of Temporalis Muscle Following Temporalis Tendon Transfer (Facial Reanimation) Surgery.

UNLABELLED: Facial paralysis is a significant functional and aesthetic handicap. Many techniques have been defined for facial reanimation. The aim of the study was to evaluate postoperative electromyographical (EMG) activity of temporalis muscle to assess the potential neural impairments related to the surgical procedure. METHODOLOGY: Four patients with facial paralysis were operated with the temporalis muscle tendon transfer technique. Simultaneous surface electromyographic (sEMG) activity at first postoperative year from the bilateral temporalis and masseter muscles was obtained at mandibular rest position and then during maximal clenching. RESULTS: Patients were followed for a minimum period of 18 months. Surface electromyographic evaluations during passive state revealed similar values for the operated and contralateral side. Measurements during active "clench-smiling" of the jaw revealed similar amplitudes for both muscles of the operated side in all cases except case #2. Case #2 revealed lower values for both measurements of temporalis and masseter muscles of the operated side compared with the contralateral side. Dissonant results of case #2 can be the consequence of impaired temporalis muscle activity because of the tension on the muscle as a consequence of overcorrection. CONCLUSION: Temporalis muscle transfer to the perioral region does not hinder contractility of the muscle as long as the facial deformity is not overcorrected.

Carotid Endarterectomy in a Patient with Posterior Cerebral Artery Infarction: Influence of Fetal Type PCA on Atypical Clinical Course.

Fetal type PCA may positively affect clinical outcome in patients with ischemic stroke such as protection of a reserve blood flow capacity as well as negative effect on clinical outcome such as certain atypical pathological manifestations. We presented a patient with a posterior cerebral artery territory infarction due to an unexpected etiology as stenosis of internal carotid artery (ICA) with existence of fetal type PCA.

One-year follow-up in patients with brainstem infarction due to large-artery atherothrombosis.

BACKGROUND: Posterior circulation infarction accounts for approximately 25% of the ischemic strokes. A number of different conditions may be associated with the development of brainstem infarction. Prognosis and recurrence rate of brainstem infarction due to large-artery atherothrombosis is still controversial. METHODS: A total of 826 patients with ischemic stroke were admitted to our clinic during a 15-month period. Patients with clinical and radiological evidence of brainstem infarction were comprehensively assessed with appropriate vascular imaging modalities and for cardiological causes. Subjects with an established diagnosis of large-artery atherothrombosis were followed up for 1 year in terms of prognosis and recurrence rates. RESULTS: Of the 101 patients with an established brainstem infarction, the diagnostic work-up indicated the presence of large-artery atherothrombosis as the causative factor in 53. A recurrent stroke was detected in the posterior circulation within the first 3 months in 5.8% and within 1 year in 9.8% of these individuals. The 1-year mortality rate was 11.7%. All patients with recurrent stroke had intracranial vascular narrowing at baseline. CONCLUSION: Our findings demonstrate a particularly high rate of recurrence and mortality at 1 year among patients who have a brainstem infarction due to intracranial arterial stenosis.

Bilateral jugular vein and sigmoid sinus thrombosis related to an inherited coagulopathy: an unusual presentation.

Internal jugular vein thrombosis (IJVT) is a rare condition associated with malignancy, coagulopathy, and trauma. The optimal management of any IJVT must be individualized and depends on the condition of the patient. Case Presentation. We report the case of a 42-year-old woman with a history of a first trimester spontaneous abortion. Apart from a tension-type headache, she had no neurological symptoms. She reported an incidental diagnosis of right-sided IJVT when she was evaluated for hyperthyroidism ultrasonographically. On ultrasonography, we observed bilateral jugular vein thrombosis. The patient was started on oral warfarin. Seven months later, when she was adequately anticoagulated, she developed a second thrombosis. According to the etiological workup, she had a mutation in the homozygous methylene tetrahydrofolate reductase (MTHFR) gene and reduced protein C levels and activity. Conclusion. This report illustrates an unusual presentation of a rare condition. In this case, the etiology was associated with the coagulopathy, which occurred despite adequate anticoagulation.

Reversible conduction failure in overlap of Miller Fisher syndrome and pharyngeal-cervical-brachial variant of Guillain-Barré syndrome in the spectrum of nodo-paranodopathies.

Patients with an overlap of the pharyngeal-cervical-brachial variant of Guillain-Barré syndrome and Miller Fisher syndrome (PCB/MFS) have rarely been reported. The electrophysiological findings in PCB/MFS are of great interest and may provide insight into the pathophysiology of the disorder. We report the clinical features and nerve conduction study findings in a patient with PCB/MFS with high titers of antiganglioside antibodies against GQ1b, GD1a, and GD1b. In serial nerve conduction studies, compound muscle action potential amplitudes normalised without development of temporal dispersion within 3 weeks, and absent median, ulnar, and sural sensory nerve action potentials became recordable within 4 months. These findings are consistent with reversible conduction failure in both motor and sensory fibres, and PCB/MFS could be classified in the recently described nodo-paranodopathy spectrum of acute neuropathies associated with anti-ganglioside antibodies.

Subacute Combined Degeneration of the Spinal Cord due to Different Etiologies and Improvement of MRI Findings.

Subacute combined degeneration (SCD) is a rare neurological complication of vitamin B12 deficiency, characterized by demyelination of the dorsal and lateral spinal cord. Herein, we describe three cases, who presented with SCD, one related to reduced intake of vitamin B12 because of a vegetarian diet and two related to nitrous oxide exposure during surgery. MR images of our patients revealed symmetrical hyperintense signals in dorsal and lateral columns in T2 weighted series. After treatment with intramuscular B12 injections (1 mg daily for 2 weeks, once weekly thereafter for three months) all patients showed improvement of their symptoms. Abnormalities of the spinal cord on MRI resolved in three months. In conclusion, SCD either due to nitrous oxide exposure or due to reduced intake of vitamin B12 is a reversible condition, when detected and treated early.

Relationship between electrodiagnostic severity and neuropathic pain assessed by the LANSS pain scale in carpal tunnel syndrome.

OBJECTIVE: The aim of the study was to investigate the relationship between the presence of neuropathic pain assessed by the Leeds Assessment of Neuropathic Symptoms and Signs (LANSS) scale and electrophysiological findings in patients with carpal tunnel syndrome (CTS). METHODS: We studied 124 hands with idiopathic CTS with pain complaints involving hand and wrist. All hands were assessed by the LANSS with which a score of 12 or more is defined as pain dominated by neuropathic mechanisms. These hands were assigned to minimal, mild, moderate, severe, or extreme severe groups according to the results of the median nerve conduction studies. RESULTS: A LANSS score ≥ 12, suggestive of pain dominated by neuropathic mechanisms, was defined in 59 (47.6%) CTS hands. Pain intensity was significantly higher in CTS hands with a LANSS score ≥ 12 (P < 0.001). Among electrophysiological findings, compound muscle action potential amplitude was significantly lower in hands with a LANSS score ≥ 12 compared with hands with a LANSS score < 12 (P = 0.020). Severity of CTS was not significantly different between LANSS ≥ 12 and LANSS < 12 groups. Electrophysiological severity was significantly higher in CTS hands with evoked pain (P = 0.005) and allodynia (P < 0.001) in LANSS subscore analysis. CONCLUSION: We suggest that the presence of pain dominated by neuropathic mechanisms in CTS is not related to electrophysiological CTS severity. Neuropathic pain should be assessed carefully in patients with CTS, and an appropriate treatment plan should be chosen, taking into account the clinical and electrophysiological findings together with the true pain classification.

Prophylactic Treatment of Migraine.

Migraine is a common chronic neurological disease characterized by episodic attacks of headache and associated symptoms. The pharmacological treatment of migraine may be acute or prophylactic, and patients with frequent, severe headaches often require both approaches. Prophylactic treatment is used to reduce the frequency, duration, or severity of attacks, to enhance the benefits of acute treatments, and to improve patient's ability to function normally. Prophylactic treatment may also prevent progression from episodic migraine to chronic migraine and may result in reductions in health-care cost. The currently available pharmacological options for migraine prophylaxis include a wide array of medications. The major medication groups for prophylactic treatment include ß-blockers, anticonvulsant, drugs such as topiramate and valproate, antidepressant drugs, such as amitriptyline and selective serotonin and selective serotonin-norepinephrine reuptake inhibitors (SNRIs), calcium channel antagonists and neurotoxins. The agent for prophylactic treatment should be chosen based on the efficacy and side-effect profile of the drug, and the patient's coexistent and comorbid conditions.

Hemifacial Spasm due to Compression of the Posterior Inferior Cerebellar Artery Aneurysm Treated with Botulinum Toxin Type-A: A Case Report.

A 79-year-old female presented with five months history of progressive involuntary twitching movement on left face. Brain MR imaging revealed a heterogeneous T2 hyperintense lesion at left cerebellopontine angle. CT angiography showed a partially thrombosed saccular aneurysm of left PICA (posterior inferior cerebellar artery). The patient was treated with Botulinum toxin type A and almost total relief of symptoms was noticed during one month followup. Botulinium toxin injection is an effective symptomatic treatment option in nonsurgical secondary hemifacial spasm (HFS) cases.