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Multiple system atrophy (MSA) is a late-onset, sporadic, progressive, neurodegenerative disorder clinically characterized by autonomic failure and either poorly levodopa-responsive parkinsonism or cerebellar ataxia. There isn’t any effective treatment on disease progression. Current therapeutic strategies are primarily based on dopamine replacement and improvement of autonomic failure. Clonazepam, propranolol, baclofen, amantadine, gabapentin, buspirone have also been used for symptomatic treatment of ataxia in MSA patients, but their efficacy known modest and transient. Herein we describe a MSA-C patient with disabling ataxia and sick sinus syndrome who showed distinct improvement in her symptoms after amantadine treatment and cardiac pacemaker implantation.

Background Rheumatoid arthritis (RA) is an autoimmune disease characterized with symmetric synovitis and occasional extra articular involvement; also, some neurologic disorders can be observed during the disease course. Myasthenia gravis (MG) is one of them and it is an autoimmune disease of neuromuscular junction. It is caused by autoantibodies against neuromuscular junction proteins: the nicotinic acetylcholine receptor (AChR) and the muscle specific tyrosine kinase (MuSK). Very few studies have reported the associated autoimmune disorders in MuSK-MG. Here, we present the first patient who has MuSK antibody-positive MG gravis and rheumatoid arthritis. Case presentation A 53-year-old woman with RA presented with fatigue and fluctuating proximal muscle weakness. Her electroneurophysiological investigation resembled MG. Her AchR antibody level was normal but MuSK antibodies were high. After the acute treatment with plasmapheresis which lead to complete recovery in myasthenic symptoms, she is following with mycophenolate mofetil. Conclusions Concomitant autoimmune disorders are common in the population. MG should be considered in patients with an autoimmune disorder and developing new neuromuscular weakness.

Ataxia-telangiectasia (AT) in an autosomal recessive, multisystemic rare disorder. The core features of the disease are progressive cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency, radiation hypersensitivity and predisposition to malignacy. Except prominent feature cerebellar ataxia, oculomotor apraxia, choreoathetosis, dystonia and neuromuscular symptoms may observed. Neuromuscular abnormalies commonly accompanied the disease in the later stages. Most involvement types are sensorimotor axonal polyneuropathy and spinal muscular atrophy in neuromuscular system. Here we report an adult AT patient with severe neuromuscular system involvement.

White blood cells (WBCs) are the main component of the immune system that have a major role in protecting the body against different types of infections arising due to viruses, bacteria, fungi, and so on. The WBCs are generally referred to as 5 main subtypes: lymphocytes, monocytes, neutrophils, eosinophils, and basophils. Recognizing and counting each type of WBC is important for diagnosing and treating various disorders, such as infectious diseases, autoimmune disorders, immune deficiencies, leukemia, etc. To this end, a fast and accurate WBC classification model is crucial. This study offers a new model that works with a deep neural network—namely, multi-layer (ML) convolutional features of the AlexNet architecture followed by a feature selection (FS) strategy (MLANet-FS) for WBC-type identification. The proposed model exploits multi-layer convolutional features from different layers of the AlexNet model to provide rich discriminative detail, because different convolutional layers contain different visual characteristics of WBCs, and thereafter, linear fusion of these features occurs automatically. FS strategy is used to select the most distinguishing features from the feature fusion pool. Next, an extreme-learning machine (ELM) is employed to learn a discriminative model of WBC type identification. The proposed MLANet-FS-ELM model was evaluated in extensive experiments on the WBC benchmark dataset. It achieved 99.99% training accuracy and 99.12% testing accuracy, demonstrating that the proposed model outperforms alternative methods in the literature developed for WBC identification.

Localized lipoatrophy usually presents as isolated or multiple, atrophic, depressed areas which are commonly found in the proximal part of extremities. We report a case with idiopathic localized lipoatrophy and want to emphasize the role of magnetic resonance imaging in the evaluation of atrophic lesions.

Autonomic dysreflexia is a clinical emergency syndrome of uncontrolled sympathetic output that can occur in patients who have a history of spinal cord injury. Despite its frequency in spinal cord injury patients, central nervous system complications are very rare. We report a man with traumatic high level incomplete spinal cord injury who suffered hypertensive right thalamic hemorrhage secondary to an episode of autonomic dysreflexia. Prompt recognition and removal of the triggering factor, the suprapubic catheter obstruction which led to hypertensive attack, the patient had a favorable functional outcome after the resorption of the hematoma and effective rehabilitation programme.

We conducted this study to determine familial Mediterranean fever (FMF)-associated central nervous system involvement including demyelinating lesions, stroke, and posterior reversible leukoencephalopathy syndrome (PRES). Patients with MEFV mutations were systematically reviewed through the Medical Biology Unit database. All samples sent for mutation analysis were screened for 10 common MEFV mutations. Patients with FMF and neurologic disorders according to the clinical records were invited for reevaluation. Lumbar puncture, electroencephalography, and evoked potentials were used to determine the type of neurologic involvement in selected cases. Electrocardiography, transthoracic and/or transesophageal echocardiography, and magnetic resonance imaging and/or angiography were performed to clarify the etiology of cerebrovascular disease. Of 8864 patients in the genetic testing database, 18 with neurologic signs were assessed. The mean age of patients was 31.0 +/- 11.8 years, mean age at first FMF symptom was 12.6 +/- 5.6 years, and mean age at neurologic involvement was 25.8 +/- 12.2 years. Fifty-five percent of patients were women. A homozygote MEFV mutation was detected in 16 of 18 patients (88.8%), and a homozygote M694V mutation was found in 72.2% of patients. We found 7 FMF patients with demyelinating lesions, 7 with cerebrovascular disease, and 4 with PRES. The mean interval between first FMF sign and neurologic involvement was 13.7 +/- 8.9 years in the demyelinating group, and 23.4 +/- 10.3 years in the group with cerebrovascular disease. Mean stroke age was 28.5 +/- 16.4 years. All patients in the PRES group had hypertension. Three different neurologic conditions in FMF patients were noticeable. Demyelinating lesions and cerebrovascular disease were the most common clinical presentations. Approximately 70% of patients had the homozygote M694V mutation. Neurologic involvement is rare but serious in FMF.

Acute ischemia of the corpus callosum (CC) is not a well-known feature in patients with acute hydrocephalus. Herein, we describe a case with acute CC infarction due to another rare entity; transient obstructive hydrocephalus. A 66-year-old male was admitted with sudden onset right-sided hemiparesia. CT demonstrated a hematoma on the left basal ganglia with extension to all ventricles. The following day, the patient's neurological status progressed to coma and developed bilateral pyramidal signs. MRI demonstrated obstructive hydrocephalus and acute diffuse infarction accompanied by elevation of the CC. On the same day there was improvement in his neurological status with significant decrease in ventricular size and complete resolution of the clot in the third ventricle. The mechanism of signal abnormalities is probably related with the neural compression of the CC against the falx. Presumably, the clot causing obstruction in the third ventricle dissolved or decayed by the help of fibrinolytic activity of CSF, which was raised after IVH and caused spontaneous improvement of hydrocephalus. Bilateral neurological symptoms suggest diffuse axonal damage and normalization of the intracranial pressure should be performed on the early onset of clinical detorioration in order to prevent axonal injury.

We report a typical fragile X-associated tremor/ataxia syndrome (FXTAS) case with the consent of the patient. A 68-year-old man presented to our clinic with a 12-year history of progressive gait ataxia and bilateral hand tremor. The patient also experienced problems with impotence, occasional episodes of diarrhea/constipation, and lightheadedness. His family history revealed that his sister and her daughter had a history of premature ovarian failure, and his neurological examination revealed bradymimia, bilateral mild postural and action tremor with terminal dysmetria, and ataxic widebased gait. Both loss of distal reflexes and reduction in vibratory sense were observed. A detailed neurocognitive evaluation revealed mild frontal-type dysfunction. His cranial MRI showed generalized cerebral atrophy and increased T2 signal intensity in bilateral middle cerebellar peduncles and lateral periventricular areas (Figure 1). Nerve conduction studies showed motor and sensory demyelinating polyneuropathy in his lower extremities (Figure 2). His heart rate variability test revealed autonomic system involvement toward parasympathetic activity, and his genetic test revealed expanded CGG repeat above 60 within the premutation range (55–200) in the fragile X mental retardation 1 (FMR1) gene.

BACKGROUND l-2-Hydroxyglutaric aciduria is a rare progressive neurometabolic disorder of childhood inherited as an autosomal recessive trait. Urine organic-acid screening is necessary for its diagnosis. Although it is a disorder of childhood, recently adult cases have been reported. CASES Here we report 4 adult patients in whom diagnoses were established in adulthood. These patients had some interesting features. First, their diagnoses were delayed until adulthood because of mild clinical symptoms. In such cases, the typical MRI findings are the best diagnostic clue for l-2-Hydroxyglutaric aciduria. Second, there was a correlation between the severity of the clinical course and the extent of MRI findings. The cerebral white-matter lesions were diffuse and confluent on the MRI of 3 of the 4 patients, who also experienced a rapidly progressive clinical decline. Third, there were different clinical presentations even within the same family. CONCLUSIONS For the evaluation of patients with symptoms referable to cerebellar, pyramidal, extrapyramidal, or cognitive impairment as well as seizures associated with subcortical white-matter and symmetrical dentate nuclei and basal ganglia involvement on MRI, urine organic acid analysis should be included in the evaluation, regardless of patient's age.

We report a patient with a testicular teratoma and seminoma, who developed treatment-responsive encephalitis associated with antibodies to NMDA receptor, but not antibodies to Ma2 protein. A 30-year-old male was admitted to hospital with a 1-week history of personality changes, confusion, agitation and recurrent generalised tonic-clonic seizures. His past medical history was unremarkable, except for the presence of generalised fatigue and sore throat a few days before symptom onset. On physical examination, the only pathological finding was bilateral testicular enlargement. He was agitated and disoriented to time, place and person; his speech was incoherent, and he had persecutory and erotic delusions. The rest of the neurological examination was normal. The initial laboratory studies, including complete blood count, biochemistry, EEG and brain MRI, were normal. The CSF examination was significant for an elevated protein concentration (113 mg/dl) with normal glucose content and mild leukocytosis (25 cells/μl); bacterial and viral studies, including PCR for herpes simplex virus, were negative. Testicular ultrasound revealed the presence of a left testicular mass and right testicular torsion. Computerised tomography of the chest, abdomen and pelvis demonstrated the presence of a retroperitoneal lesion, which was suggestive of metastasis. These findings led us to consider the diagnosis of paraneoplastic encephalitis. Accordingly, CSF …

Ross syndrome is a rare clinical disorder of sweating associated with areflexia and tonic pupil. The most disturbing symptoms are segmental compensatory hyperhidrosis and heat intolerance. There are few reports of Ross syndrome in the dermatological literature. In this report, we present a case of a 40-year-old man with a 5-year history of hemifacial hyperhidrosis as his primary complaint. This report intends to inform physicians, especially dermatologists and neurologists, of the presence of this complex disorder.