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A 41-year-old female with history of Graves' disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles. Myotonic dystrophy (MD) diagnosis was confirmed by genetic testing and myasthenia gravis (MG) by a positive titer of cholinergic receptor autoantibodies. In the CSF concentration of hypocretin was significantly decreased., (Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)

Background and Purpose: In the last years the presence of peripheral nervous system (PNS) lesions has been noted in patients with multiple sclerosis (MS). The frequency and degree of PNS damage reported by many authors differ among publications, so does the type of PNS lesions. The aim of our study was to perform an electrophysiological evaluation of the peripheral nervous system in patients with a definite diagnosis of multiple sclerosis and without any clinical signs of peripheral neuropathy., Material and Methods: 110 patients were included in the study, comprising 70 people with a definite diagnosis of multiple sclerosis and 40 people without any symptoms of organic nervous system lesion serving as a control group. During neurologic examination of MS patients the degree of disability measured by EDSS scale, the duration of the disease as well as number of relapses were assessed. A "disease progression factor" was calculated by dividing a number of relapses by disease duration in years. Patients with common etiologies for peripheral neuropathy such as diabetes, renal insufficiency, thyroid gland dysfunction, proliferative disorders etc. were excluded from the study. Orthodromic motor conduction and late responses (F wave) in median, ulnar, peroneal and tibial nerves as well as sensory conduction in median, ulnar (orthodromic) and sural (antidromic) nerves were evaluated., Results: There was electrophysiological evidence of peripheral nervous system lesions in at least one nerve in 52 (74.2%) MS patients. In 30 patients (42.8%) more than one peripheral nerve was lesioned. There were more significant differences noted during the examination of sensory nerves. Sensory amplitudes in all of the sensory nerves examined were significantly lower than in control group. Furthermore we observed slow sensory conduction velocities and prolonged sensory latencies in ulnar and sural nerves. There were significant differences between the two groups of patients concerning motor conduction too: prolonged distal latency in tibial and sural nerves, prolonged F wave latency in median, peroneal and tibial nerves, low motor amplitude in ulnar and peroneal nerves, low motor conduction velocity in ulnar nerve -- all noted in MS patients. We found no correlation between conduction parameters and the patients' age, disease duration, number of relapses and disease progression degree., Conclusions: We found out that subclinical peripheral nervous system abnormalities are very frequent in MS patients. We noted both sensory and motor nerve lesions of a demyelinating-axonal character. Sensory abnormalities were more pronounced than motor ones. There was no correlation between the degree of PNS lesions and the patients' age and/or progression of multiple sclerosis.

A 61-year-old man was admitted to the Department of Neurology, Medical University of Białystok with signs of intracranial hypertension associated with headaches and papilledema, with no other signs of the nervous system dysfunction. CT and MRI brain scans were normal, cerebrospinal fluid contained 1620 mg/dl of proteins. One month later epileptic seizures with a loss of consciousness occurred. Brain CT and MRI scans showed no focal pathology and failed to disclose any intracranial tumor. The acute pain in the lumbar spine region made us perform an MRI scan of the lower spinal cord, which disclosed cauda equina tumor. The tumor was surgically removed and it was histopathologically concluded to be ependymoma. After the operation there were neither headaches nor seizures and we noticed an improvement in his vision acuity. In the postoperative course the patient suffered from urinary and bowel dysfunction. In this article we discuss a pathogenesis of intracranial hypertension occurring in spinal cord tumors and stress the need for a diagnosis of spinal cord lesions in patients with the elevated intracranial pressure.

Adrenomyeloneuropathy is a late type of adrenoleukodystrophy. It is a hereditary disease linked to chromosome X and it is caused by abnormalities in the function of peroxisomes. Adrenomyeloneuropathy results from mutations in ABCD1 gene, that resides on chromosome Xq28 and encodes an integral peroxisomal membrane protein ALDP that belongs to the ATP-binding cassette-transporter family. The enzymatic defect concerns a transporter protein for acyl-CoA synthetase, taking part in beta-oxidation of very long chain fatty acids. This results in their accumulation in various organs. In the clinical picture spastic paresis of lower limbs, cerebellar ataxia, sensation and sphincteral disturbances predominate. This can lead to a misdiagnosis, especially shortly after the onset of symptoms, namely multiple sclerosis may be wrongly diagnosed. Coexisting endocrinological and quite often psychiatric disorders together with characteristic MRI findings facilitate the diagnosis. The diagnosis can be confirmed by a biochemical assay of very long chain fatty acids. We present a case of a 31-year-old man with adrenomyeloneuropathy. We based our diagnosis on a clinical picture and wide range of diagnostic procedures including: neuroradiologic findings, electrophysiologic, hormonal and biochemical tests, which are discussed in this article.

The stiff man syndrome is a rare CNS disease of a probably autoimmunologic etiology. The paper presents a case of a 45-year-old man hospitalized in our department of neurology because of trunk muscles rigidity and painful, paroxysmal, immobilizing muscle spasms with excessive sweating. On the neurological examination he presented with a restricted range of active movements of the trunk, increased muscle tone in the shoulder girdle, abdominal and paraspinal muscles, as well as lumbar hyperlordosis. The electromyographic needle examination revealed in all his trunk muscles an excess, continuous motor unit activity at rest, diminishing after benzodiazepine administration. This confirmed our initial diagnosis based on clinical symptoms and signs. No abnormalities were found in other examinations, including the cerebrospinal fluid analysis, CT of the brain, and the spinal cord MRI. The patient was treated with glucocorticoids and GABA-ergic drugs (vigabatrin, diazepam and baclofen) with good results, i.e. a considerable amelioration of his complaints. His motor ability has increased so much that he was fully self-dependent. No deterioration in his clinical status has been noted over three years since his discharge.

Unlabelled: Degenerative process in Parkinson's disease affects substantia nigra and other central structures of an extrapyramidal system but it can also affect central and peripheral autonomic centres. One of the most frequent late complications in levodopa therapy is a wearing off phenomenon. We present a patient treated for Parkinson's disease in whom during the period of levodopa wearing off we observed a paroxysmal abdominalgia apart from other features of a typical movement disorders like: increasing rigidity, gait disturbances and tremor. Abdominalgia consisted of stomach cramps, with variable localization in epi-, meso- and hypogastrium. Rectal tenesmus was also present. The patient was treated with analgesics, spasmolytics and carminative drugs with no effect. Abdominal pains regressed after an intake of the next levodopa dose. The patient presented with other features of a gastrointestinal tract autonomic system dysfunction like: chronic constipation, preterm satiety resulting in food intake reduction and a decrease in body weight. There was no organic lesions of the gastrointestinal system that could explain such disturbances. Pharmacologic treatment modification (more frequent levodopa dosage, additional dopamine agonist) resulted in some improvement., Conclusion: It is possible that the abdominal pains could be a clinical manifestation of a digestive tract dyskinesias, occurring during

Progressive supranuclear palsy (PSP) is one of the most frequent causes of an atypical parkinsonism. The cognitive disturbances in PSP gave rise to the term "subcortical dementia". Cognitive impairment is independent of depression, which is also common in PSP. There is no correlation between cognitive impairment and either disease duration or a level of physical disability. We present a clinical picture and difficulties in PSP diagnosis in three patients--63 to 74 years old, who were hospitalized in the Department of Neurology, Medical Academy in Bialystok. A neuropsychological evaluation revealed significant differences among those patients. The patients presented with: 1. depressive and dementive syndrome, 2. executive dysfunction, 3. slowed information processing with no signs of dementia. Our findings are similar with data presented in literature and confirm the observations that: 1. there is a difference in a degree of cognitive impairment in between the patients with PSP, 2. the most frequent cognitive disturbances in PSP patients are: slowness of thought process and executive dysfunction.