Analysis of two cases of myasthenic crisis

Introduction: Myasthenia gravis is an autoimmune disease of the postsynaptic part of the neuromuscular junction. The disease is chronic, manifesting itself in the fatigue of various muscle groups, and the first manifestation of the disease often affects the muscles that move the eyeball and eyelid, although MG can lead to weakness of any muscle group. In turn, myasthenic crisis is a severe worsening of muscle weakness that often results in the urgent need of mechanical ventilation of the patient, due to the respiratory failure. Case reports: The first patient, 64 years old, female was admitted to the Neurology Department due to breathing difficulties and weakness of the limbs, which suddenly worsened within a dozen of hours before admission. During the stay, steroid therapy was used, as well as six times plasma exchange took place at the Nephrology Department with good treatment tolerance. The dosage of pyridostigmine was also modified, with no adverse effects. During the stay, the patient's condition improved - respiratory disorders resolved, ptosis was significantly withdrawn, and limb muscle tension increased globally. The second patient, aged 67, also female, with a history of myasthenia gravis as well, was admitted to the Neurology Department due to increased fatigue, ptosis, dysphagia, and difficulties in speaking and breathing. Steroid therapy was used, but due to high blood glucose, the steroid dose was reduced and a 2-day cladribine treatment was initiated, with good tolerance. Discussion: Myasthenic crisis is often a life-threatening condition that requires immediate treatment. Steroid therapy, pyridostigmine, IVIG and plasma exchange are standard approaches in myasthenic crisis. Cladribine is not an ordinary approach, but can be beneficial in some patients

A neoplasm associated with the meninges of the spinal canal – a case report

Introduction: Spinal canal neoplasms are a heterogeneous group of diseases including both primary and metastatic tumors, either benign or malignant. These tumors can develop both intraspinally and peripherally. Spinal canal tumors are four times less frequent than intracranial tumors. Four-limb paresis may be one of the leading symptoms of a spinal canal tumor. Case report: A 76-year-old female patient was admitted to Neurology Dept. Due to progresive paresis of the lower limbs, muscle weakness, gait disorders and urinary incontinence. A spine MRI revealed a contrast enhancement of the meninges of the spinal cord over the entire length of the spinal cord in the sections covered by the MRI, as well as numerous focal lesions associated with the meninges, which were most likely cancer metastatic foci. CT of the chest, abdominal cavity and pelvis showed no signs of primary neoplasm. A PET scan was scheduled for a patient, but it was abandoned due to haemorrhagic incydent within the brain of the patient. Head MRI revealed no signs of primary cancer focus as well. Histopathological examination of the CSF revealed no specific changes. The patient died, and the autopsy was not performed accordingly to family’s request. Discussion: Cancers of unknown primary origin constitute 3-5% of all cancer cases. These, usually fast-progressing cancers are a huge diagnostic difficulty, which results in mediocre effects of treatment of patients who already have cancer metastases, but it is not known what type of cancer doctors are dealing with. In approximately 20% of patients with cancer with an unknown origin, the primary tumor cannot be determined despite the specialized examinations. In such cases, often only post-mortem examination gives a chance to make the correct diagnosis

Analysis of current epilepsy treatment guidelines

Introduction: In 2017, the International League Against Epilepsy (ILAE) published a new classification of seizures. The purpose of this publication is to analyze the use of antiepileptic drugs in epilepsy therapy depending on the types of seizures classified according to ILAE 2017. State of the art: The new basic classification emphasizes mainly the location, where seizures begin in the brain, as the most important criterion to classify epileptic seizures. In focal onset seizures, 1st line of treatment in children is oxcarbazepine, while carbamazepine, levetiracetam, phenytoin and zonisamide is 1st choice in younger adults and gabapentin and lamotrigine in elderly patients. In younger adults valproic acid can be considered as second line treatment. In generalized tonic and atonic seizures carbamazepine, phenobarbital, phenytoin, topiramate, oxcarbazepine and valproic acid can be used both in children and adults. Safe and effective drugs in myoclonic and myoclonic-atonic seizures in all age groups are topiramate and valproic acid. In absence seizures, 1st line treatment in children is ethosuximide (used exclusively in this seizures type) and valproic acid, while carbamazepine, lamotrigine, oxcarbazepine, phenobarbital, phenytoin, topiramate, valproic acid, gabapentin, levetiracetam and vigabatrin are commonly used in adult patients. Non-pharmacological approaches, used in refractory epilepsy, include: surgical resection of the seizure focus, the ketogenic diet, vagus nerve stimulation and responsive neurostimulation. Summary: The new ILAE classification corresponds well with the old guidelines well, which leads to simplifying and spreading the knowledge about epileptic seizures treatment

Airplane headache – an underestimated problem?

The airplane headache is an incident of severe, clinically stereotypical pain during ascent or descent of an airplane. The entity is considered rare; however, growing numer of passengers in air transport results in better recognition of the problem. The airplane headache typically lasts less than 30 minutes and is unilateral, most often in fronto-orbital region and is connected with take-off or (more often) landing of the aircraft. The most important causative factor is sinus barotrauma attributed to changes in air pressure in passenger airliners during different phases of flight. So far there are only single cases or case series described in the literature. However, the problem can affect even a few percent of airline passengers. The condition is rare among children. The most effective treatment are triptans, but naproxen, paracetamol and nasal decongestants may play an important role either. There is an urgent need to conduct more researches on epidemology, pathogenesis and treatment of the headache attributed to airplane travel

What is currently known about endometrial cancer in Lynch syndrome? - review

Introduction: About 5% of endometrial cancer cases can be genetic and inherited. Lynch syndrome, also called hereditary non-polyposis colorectal cancer (HNPCC), is an autosomal dominant syndrome. Caused by a germline mutation in one of the DNA mismatch repair genes, it is responsible for most hereditary cases. Lynch syndrome is associated with the early onset and the development of many types of cancer, especially colon and endometrial cancer. Methods: The review of publications regarding Lynch syndrome-associated endometrial cancer and methods for screening, diagnosis and its prevention. State of knowelage: Endometrial cancers related to Lynch syndrome are mostly sentinel (they reveal the predisposition in 50% of families) and are characterized by young age at onset (commonly before 60 years). The lifetime cumulative risk of endometrial cancer for women with Lynch syndrome is about 40% to 60%, which equals or exceeds their risk of colorectal cancer. Lynch syndrome, the current gynecologic cancer screening guidelines include annual endometrial sampling and transvaginal ultrasonography beginning at age of 30-35 years, which is very important in the early detection of this cancer. Risk-reducing surgery consisting of prophylactic hysterectomy and bilateral salpingooophorectomy should be offered to women aged 35 years or older who do not wish to preserve their fertility. Summary: Diagnosis of endometrial cancer in patients with Lynch syndrome has important clinical implications for the individual and family members

Oligoclonal bands as predictors of multiple sclerosis in clinically isolated syndrome

Clinically Isolated Syndrome (CIS) is the first episode of inflammatory and demyelinating symptoms. According to the classification criteria of multiple sclerosis (MS) from 2013, CIS is defined as the first clinical manifestation of the disease. McDonald's 2010 criteria, considered the gold standard in the diagnosis of MS, are based on the clinical symptoms and the characteristic changes in magnetic resonance imaging (MRI). Unfortunately, up to 60-70% of patients with CIS do not meet the criteria for diagnosing MS at an early stage. At the same time, approximately 85% of patients with CIS will develop clinically defined MS (CDMS) in the future. When looking for other diagnostic tools, attention was paid to the role of oligoclonal bands (OBs) as predictors of MS development. Oligoclonal bands are immunoglobulins produced intrathecally by B-lymphocytes and plasma cells. Their level is examined in cerebrospinal fluid (CSF) collected by lumbar puncture. Studies carried out on a group of patients with CIS showed that people with positive test results for oligoclonal bands are twice as likely to develop MS than people with negative OBs. These conclusions are reflected in the revised McDonald's criteria in 2017, where OBs are used in the diagnosis of CIS patients with absence of new symptoms of the disease and changes in MRI. Early diagnosis makes possible to implement modifying disease drugs in the initial stage and, consequently, to achieve better therapeutic effects. The emphasis is also put on the development of other predictors in body fluids, which are effective in the diagnosis of people with CIS and negative oligoclonal bands. Many factors, including Epstein-Barr virus, chitinase-3 like 1, chitinase-3 like 2, chitotriosidase, multi-specific response to measles, rubella and varicella known as "MRZ reaction" or T-cell gene mutation are studied as a potential risk factors for MS development. Their use in diagnostics would improve the detection of MS in earlier stages, and thus the treatment of larger population of patients

Optimization of pain management in cervical dystonia

Cervical dystonia (CD) is the third most common movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements, postures, or both. Pain in the course of CD is a frequent symptom reported by the 54.6% - 88.9% of patients, which strongly affects the disability and quality of life, and is the most common reason patients are looking for treatment. Despite the main effect of botulinum toxin (BoNT) is muscle relaxation through the inhibition of the acetylcholine release at the neuromuscular junction, the analgesic effect of BoNT is probably attributed to the acting on central nervous system. Up to 20% of patients discontinue therapy due to treatment failure or adverse effects. Most poor responses are related to suboptimal treatment and a minority to immunoresistance which currently concerns only 0-2,5% of CD cases. In case of confirmed immunoresistance to BoNT-A standard therapy, the use of BoNT-B or alternative BoNT-A is recommended. The currently available management of improving the analgesic efficacy of first-line treatment in patients without immunoresistance includes: the eradication of BoNT adverse events, the determination of individual BoNT dosage, reviewing injections technique with electromyography or ultrasound guidance, the implementation of a rehabilitation program and the applying of the invasive or non-invasive brain stimulation methods. However, due to the lack of evidences from the large, randomized, controlled, clinical trials, an issuance of unambiguous recommendations remains difficult. Further studies on a poor response to BoNT injections and analgesic effects of above methods in the treatment of the CD-related pain are needed

HSV encephalitis with normal initial CT scan - a case report with a review of the literature

Introduction. HSV-1 is the most common cause of viral encephalitis with a high mortality rate if left untreated and causes frequent diagnostic difficulties. It commonly involves the temporal, inferior frontal lobes and the limbic system. HSV can be differentiated by a combination of symptoms, laboratory tests and neuroimaging findings.Case report. A 29-year old female with HSV encephalitis, who, despite prevailing symptoms of altered mental status, had no abnormalities on initial CT head scan. Three MRI follow-up examinations revealed imaging findings with characteristic evolution. Despite CSF results being negative for HSV antibodies, the combination of symptoms, CSF analysis, and characteristic MRI findings were highly suggestive to diagnosing HSV encephalitis and to implement proper treatment.Discussion. In case of radiological changes in temporal lobe, the involvement of the Herpes simplex encephalitis (HSE) should always be considered. Although the laboratory tests happen to be inconclusive or even falsely negative, neuroimaging often helps to determine the diagnosis. Despite HSE being a severe neurological disorder, initial CT scans can be normal. MRI has become superior, especially at the early phase of the disease and is capable of determining the extensiveness of lesions

Biomarkers in Multiple Sclerosis: a review of diagnostic and prognostic factors

Introduction. Multiple Sclerosis (MS) is a chronic, demyelinating disease of the central nervous system which affects mostly young people. Because it leads to disability and cognitive impairment, it is crucial to recognise MS at an early stage.State of the art. Magnetic resonance imaging is the golden standard in MS diagnosis. However, it is not an infallible diagnostic tool, especially at the stage of clinically isolated syndrome. The incorporation of oligoclonal bands in the diagnostic process of MS is a step towards the extension of diagnostic methods. Recently, a lot of research has been carried out on potential biomarkers in blood serum and cerebrospinal fluid that may be useful in the diagnosis of MS.Clinical implications. This article summarises current knowledge on the use of new prognostic factors such as neurofilament light chain, chitinase 3-like 1 and 2, heat shock proteins, and tubulins in MS.Future directions. Despite numerous studies on the use of biomarkers in the diagnosis of MS, more extensive research is needed to determine the clinical usefulness of these molecules and to develop diagnostic tests applicable in everyday practice. This in turn may result in earlier MS detection, faster implementation of treatment, and better therapeutic effects