Excessive daytime sleepiness in a patient with coexisting myotonic dystrophy type 1, myasthenia gravis and Graves' disease.

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.

Carpal tunnel syndrome conservative treatment: a literature review.

Purpose: Carpal tunnel syndrome (CTS) is the most common compression neuropathy, which is associated with a significant psy- chosocial and economic burden. In this paper, the literature on the current knowledge about the physiology and pathology of peri- pheral nerves during the course of CTS is reviewed, with a focus on currently used treatment options and the rationale for their use. Epidemiology, risk factors, etiology, clinical features and conservative treatment have been searched for, with all full-text, English language articles being included in the study. This paper aims to present the recent findings on CTS treatment while also suggesting a direction for further clinical trials. Views: The search in PubMed and Google Scholar Databases revealed 229 articles of which 71 met the research criteria. The evi- dence regarding standard treatment methods of conservative CTS treatment is presented. CTS is a relatively common condition, which affects women more often than men. It is a multifactorial disease, and its clinical presentation mostly consists of symptoms distal to the entrapment site, including numbness, tingling, weakness and pain. Electrodiagnostic studies are considered to be the gold standard in CTS diagnosis. The conservative treatment methods reviewed are acupuncture, extracorporeal shock wave the- rapy, hydrodissection, kinesiotaping, corticosteroid injection, low level laser therapy, splints, platelet-rich plasma injection, manual therapy, ultrasound and phonophoresis. Conclusions: Based on the current body of knowledge, we conclude that the conservative CTS treatment is very safe, but the effec- tiveness of reviewed methods differs. The first promising results presented by various studies motivate the need for further research on novel treatment methods.

[Neurological and emotional profile of carpal tunnel syndrome patients]. / Profil neurologiczny i emocjonalny pacjentów z zespolem ciesni nadgarstka.

UNLABELLED: Our aim was to define the type and frequency of symptoms in patients with neurophysiologically confirmed carpal tunnel syndrome (CTS). We also assessed the incidence of anxiety and depression in CTS and control group. MATERIAL AND METHODS: After carrying out neurophysiologic examination 87 patients were diagnosed with CTS, 50 patients without confirmed CTS diagnosis served as a control group. All patients underwent thorough neurological examination and completed a questionnaire about severity and localization of their symptoms. State-Trait Anxiety Inventory (STAI), Self Rating Anxiety Scale (SAS) and Beck's depression inventory were also filled in by the patients. RESULTS: In CTS patients major symptoms were: paresthesias and nocturnal aggravation of symptoms; pain was predominant sign in control group. There were no statistically significant differences between CTS patients and control group concerning emotional (depression and anxiety) disturbances. In CTS patients depression and anxiety were correlated with: diminished sensation, hand weakness, thenar atrophy and hand pain. CONCLUSIONS: Emotional disturbances appear to be linked with objective CTS symptoms and with pain and they increase with carpal tunnel syndrome intensity.

[Primary central nervous system lymphoma with initial symptoms suggesting herpes encephalitis]. / Pierwotny chloniak osrodkowego ukladu nerwowego z poczatkowymi objawami wskazujacymi na opryszczkowe zapalenie mózgu.

Primary central nervous system lymphoma (PCNSL) is rare neoplasm, affecting both immunocompetent and immunodeficient patients. It is usually seen as intracranial tumor, but it can often involve cerebrospinal meninges, eyeballs and spinal cord. Although PCNSL is sensitive both to radiotheraphy and chemotheraphy, it's recurrences are very frequent. Mean survival time does not exceed several months. We described a case of 43 year old patient with diagnosed PCNSL and discussed clinical signs, diagnostics and treatment of the neoplasm. In our case report we emphasized transient remission after treatment with corticosteroids, which delayed a correct diagnosis and worsened final prognosis.

Pathophysiological implications of actin-free Gc-globulin concentration changes in blood plasma and cerebrospinal fluid collected from patients with Alzheimer's disease and other neurological disorders.

BACKGROUND: The extracellular actin scavenging system (EASS) is composed of plasma Gc-globulin and gelsolin, and is responsible for the elimination of toxic actin from the bloodstream. OBJECTIVES: In this study, we assessed the actin-free Gc-globulin concentrations in blood plasma and cerebrospinal fluid (CSF) obtained from subjects with neurodegenerative and inflammatory diseases of the central nervous system (CNS) as well as in a control group. MATERIAL AND METHODS: Using an enzyme-linked immunosorbent assay (ELISA), we measured the actinfree Gc-globulin concentrations in blood plasma and CSF obtained from subjects diagnosed with Alzheimer's disease (AD) (n = 20), amyotrophic lateral sclerosis (ALS) (n = 12), multiple sclerosis (MS) (n = 42), tick-borne encephalitis (TBE) (n = 12), and from a control group (n = 20). RESULTS: The concentrations of free Gc-globulin in plasma collected from patients diagnosed with AD (509.6 ±87.6 mg/L) and ALS (455.5 ±99.8 mg/L) did not differ significantly between each other, but were significantly higher compared to the reference group (311.7 ±87.5 mg/L) (p < 0.001 and p < 0.006, respectively) as well as to MS (310.8 ±66.6 mg/L) (p < 0.001 and p < 0.001, respectively) and TBE (256.7 ±76 mg/L) (p < 0.001 and p < 0.003, respectively). In CSF collected from patients diagnosed with AD and ALS, the concentrations of free Gc-globulin were 2.6 ±1.1 mg/L and 2.7 ±1.9 mg/L, respectively. They did not differ significantly between each other and were significantly higher compared to the reference group (1.5 ±0.9 mg/L) (p < 0.005 and p < 0.041, respectively). Interestingly, in patients with AD, significantly higher values of Gcglobulin were detected compared to multiple sclerosis patients (1.7 ±0.9 mg/L) (p < 0.013). CONCLUSIONS: Higher concentrations of free Gc-globulin in blood plasma and CSF collected from patients suffering from neurodegenerative diseases may indicate a potential role of this protein in their pathogenesis, and represent a potential tool for the diagnosis of CNS diseases.

[Moyamoya disease as a cause of ischemic cerebral stroke in young people]. / Choroba moyamoya jako przyczyna udaru niedokrwiennego mózgu w mlodym wieku.

35-year old patient was admitted to the Department of Neurology, Medical University of Bialystok because of paresis of his left upper limb, progressing over last 10 months and right facial nerve paresis, which started a month ago. During neurological examination he presented with right facial and arm paresis, dysarthric speech, obesity and hypertension. The patient was previously hospitalized in regional hospital, where a lumbar puncture was done revealing normal composition of cerebrospinal fluid. His brain CT revealed bilateral hypodensive areas in frontal and parietal regions of vasogenic character. Doppler ultrasound showed significant slowing of blood flow velocity in both internal carotid arteries. Brain angiography presented with very weak contrast filling of intracranial branches of carotid and vertebral arteries and showed stenosis at the terminal portion of the internal carotid arteries and at the proximal portion of the anterior and middle cerebral arteries. The patient had transthoracic and transesophageal echocardiography, Holter ECG, lab tests (routine lab tests plus coagulation system evaluation with C protein resistance test, anticardiolipne antibodies, antinuclear antibodies, anticytoplasmatic antibodies and thyroid hormones) checked--all tests were within normal range. Based on cerebral angiography and clinical symptoms, after excluding any other reasons of cerebral ischemia, the patient was diagnosed with moyamoya disease and arterial hypertension. The patient was treated pharmacologically with improvement--regression of face assymetry and dysarthria and diminishing of his right arm paresis. The authors of this paper pay attention to moyamoya disease as a rare reason of ischemic strokes in the young in our geographic region. They remind moyamoya disease diagnostic criteria, its etiology and treatment.

[Features of intracranial hypertension as a manifestation of cauda equina tumor]. / Zespól wzmozonego cisnienia sródczaszkowego w przebiegu guza ogona konskiego.

A 61-year-old man was admitted to the Department of Neurology, Medical University of Bialystok 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.

[Subclinical lesions of peripheral nervous system in multiple sclerosis patients]. / Subkliniczne uszkodzenie obwodowego ukladu nerwowego u chorych na stwardnienie rozsiane.

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.

[Stiff man syndrome successfully controlled with glucocorticoids and GABA-ergic drug administration: case report]. / Przypadek zespolu sztywnosci uogólnionej skutecznie leczony glikokortykosteroidami i lekami GABA-ergicznymi.

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.

[Adrenomyeloneuropathy: a late type of adrenoleukodystrophy linked to chromosome X]. / Adrenomieloneuropatia--pózna postac adrenoleukodystrofii sprzezonej z chromosomem X.

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.

[Wearing off phenomenon presenting with features of paroxysmal abdominal pain]. / Napadowe bóle brzucha jako objaw reakcji "wyczerpania".

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

[Cognitive deficits in progressive supranuclear palsy]. / Zaburzenia poznawcze w postepujacym porazeniu nadjadrowym.

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.

Symptomatic palatal myoclonus with ear click after tick-borne meningoencephalitis.

We present a case of a 39-year-old patient, who was diagnosed and treated for a tick-borne meningoencephalitis. Three months after the treatment he started to complain of annoying, cracks-resembling, rhythmical sounds, coming from the inside of his head to both his ears. Physical examination revealed rhythmical oscillations of the soft palate with a frequency of 100-120 per minute and a clock ticking noise synchronic with the palate tremor. Electromyography revealed continuous motor unit activity at rest in the tensor veli palatini muscle. Palatal myoclonus (PM) as a result of tick-borne meningoencephalitis was diagnosed. Treatment with several medications was started with no effect, then botulinum toxin was administered under EMG guidance to both sides of the patient's soft palate with great improvement. A 5-year follow-up and continuation of botulinum toxin injections with only minor and reversible side effects proved the treatment efficacy and safety. In the article we present a case of symptomatic palatal myoclonus with ear click and shortly discuss its aetiology, types and treatment options. We also stress the efficacy and safety of PM treatment with repetitive injections of botulinum toxin.