2018, Vol 18, No 4
Arachnoid cyst of lateral fissure: an old problem revisited. Suggestion of a novel approach based on own material
Aktualn Neurol 2018, 18 (4), p. 159–164
DOI: 10.15557/AN.2018.0022

Introduction: Arachnoid cysts located in the middle cranial fossa still poses a clinical challenge and requires a staged approach. Accepted procedures include modalities differing in mechanism of action, i.e. communication of the arachnoid cyst with arachnoid cisterns by endoscopy or craniotomy (internal decompression) and placement of a shunt (external decompression). Therefore, arachnoid cysts may in fact represent a group of diseases with different underlying pathology. Material and methods: Between January 1980 and December 2017, a total of 276 patients were operated on for an arachnoid cyst of lateral fissure. Mean age was 6.5 years and mean follow-up time was 9.7 years. A retrospective analysis of medical records was performed. Statistical analysis was performed using the Chi-squared test with Yates’ correction. Results: A single surgical procedure was performed in 89% of patients (simple arachnoid cysts, SAC), whereas 2–4 procedures were needed in 11% of cases (complex arachnoid cysts, CAC). In the CAC group, internal and external decompression was effective in 20% and 80% of the cases, respectively. In the SAC group, the proportions were nearly exactly opposite (71.9% and 19.9%, respectively) (p < 0.001). A low-pressure cystoperitoneal shunt proved effective only in 4/30 patients (13%), the remaining patients required a switch to medium- or high-pressure shunt. Conclusions: 1) A small proportion of children with an arachnoid cyst have a coexisting cerebrospinal fluid absorption deficit. 2) In these cases, effective treatment consisted in placement of a medium- or high pressure shunt; low-pressure shunts produced symptomatic overdrainage. 3) Risk factors for this subgroup of patients are: younger age, epilepsy, ventriculomegaly and cyst mass effect at presentation.

Keywords: arachnoid cyst, hydrocephalus, treatment, children
Neurological complications in systemic lupus erythematosus and rheumatoid arthritis
Aktualn Neurol 2018, 18 (4), p. 165–170
DOI: 10.15557/AN.2018.0023

Rheumatic diseases are characterised by damage to connective tissue, which is most frequently autoimmune in nature. The inflammation resulting from auto-aggression involves various organs and the heterogenous clinical symptoms depend on the intensity of the inflammatory process inside them. Among the most widespread diseases belonging to this group, there is, among others, systemic lupus erythematosus, rheumatoid arthritis, systemic vasculitis and Sjögren syndrome. They may cause symptoms resulting from damage to the locomotor system, internal organs, haematological, cardiovascular, or respiratory system. Frequently, in the course of connective tissue diseases, both the central and peripheral nervous system involvement takes place. The pathomechanism of damage to the nervous system in the course of systemic connective tissue diseases is not entirely known and usually depends on the particular autoimmune disease. The disfunction of the peripheral nervous system may precede the appearance of other symptoms, more characteristic for the particular systemic disease. The patients frequently are first referred to a neurologist and if the doctor does not consider a connective tissue disease in differential diagnosis, it prolongs their journey towards the correct diagnosis and treatment. In the article, the authors try to view selected connective tissue diseases from the perspective of a neurologist. The most common neurological disease entities, such as a stroke, polyneuropathies, epilepsy and demyelinating disorders of the central nervous system, are presented as neurological complications of systemic lupus erythematosus and rheumatoid arthritis.

Keywords: systemic lupus erythematosus, rheumatoid arthritis, central nervous system, peripheral nervous system
Systematic review of the literature on metabolic changes after aneurysmal subarachnoid haemorrhage
Aktualn Neurol 2018, 18 (4), p. 171–176
DOI: 10.15557/AN.2018.0024

Spontaneous subarachnoid haemorrhage accounts for 5% of strokes and it usually affects healthy and active people. It is most often caused by a rupture of an intracranial aneurysm and it bears a great burden of death and further complications, i.e. cerebral vasospasm and hydrocephalus, both of which still pose a great diagnostic and therapeutic challenge for physicians. Management of patients after aneurysmal subarachnoid haemorrhage largely consists of monitoring and prevention of a secondary injury. While some promising modalities of neuromonitoring have not been universally acknowledged yet, novel and less invasive strategies are studied. Metabolomics, which is one of them, is an analysis of all or at least of a large number of small molecule metabolites in a biological sample at one time. Herein we present a systematic literature review on metabolic changes after aneurysmal subarachnoid haemorrhage, with particular emphasis on concentration of excitatory amino acids and free fatty acids in cerebrospinal fluid. Although the literature review demonstrates limited knowledge in this field, it seems to be a beneficial direction for further research. Small molecule metabolites carry out important physiological functions which, however, may convert to deleterious effects under pathological conditions. As they are ubiquitous across the body, they constitute an ideal target for biomarker research.

Keywords: metabolomics, subarachnoid haemorrhage, vasospasm, biomarker
Fourth ventricle epidermoid cyst – a case report
Aktualn Neurol 2018, 18 (4), p. 177–182
DOI: 10.15557/AN.2018.0025

An epidermoid cyst is a slowly growing, typically benign tumour, which requires surgical treatment. It usually develops in the cerebellopontine angle or parasellar region, and only occasionally appears in the ventricular system. It is unusual for an epidermoid cyst to place itself in the fourth ventricle. There have only been few reports on this subject published in the literature in the recent years, and therefore, we would like to present a comprehensive description of a fourth ventricle epidermoid cyst diagnosed in two patients in a short period of time. Optimal recovery of the patient, with a minimal risk of tumour recurrence, is best accomplished by total microscopic removal of the mass.

Keywords: epidermoid cyst, fourth ventricle, cholesteatoma
Hereditary neuropathy with liability to pressure palsy – epidemiology and diagnosis
Aktualn Neurol 2018, 18 (4), p. 183–186
DOI: 10.15557/AN.2018.0026

The aim of the work is to present current knowledge on epidemiology, causes, symptomatology and diagnosis of hereditary neuropathy with liability to pressure palsy. This neuropathy usually manifests itself in the 2nd and 3rd decade of life, but also can occur at any age. Its genetic basis is the deletion or, less frequently, a point mutation of the PMP22 gene in chromosome 17p11. Symptoms appear after a small extension or compression of a nerve. In the recent years, special attention has been paid to its occurrence in the course of intense physical exercises. The most common clinical syndromes occurring in the course of the disease are paresis and sensory disturbances in the area of the median, ulnar, radial and peroneal nerves as well as brachial plexus palsy. Presence of structures called tomaculas in a nerve biopsy is characteristic for the disease. Electrophysiological and genetic studies play a key role in diagnostics. In the light of the recent studies, the frequency of occurrence of hereditary neuropathy with liability to pressure palsy seems to be significantly underestimated and ranges from 0.84 to 58.9 per 100,000. Hereditary neuropathy with liability to pressure palsies should be differentiated from compression syndromes, hereditary motor and sensory neuropathy (HMSN IA), multifocal axonal neuropathy and familial brachial plexus palsy. After recognising the syndrome, it is important to properly rehabilitate and avoid situations where there may be compression on peripheral nerves. In addition, the paper presents a case of genetically confirmed familial neuropathy with hypersensitivity to pressure in a 24-year-old male patient with a negative family history.

Keywords: hereditary neuropathy with liability to pressure palsy, peripheral nervous system, tomaculus, electrophysiological studies
Smith–Magenis syndrome – a case study
Aktualn Neurol 2018, 18 (4), p. 187–191
DOI: 10.15557/AN.2018.0027

Smith–Magenis syndrome is a syndrome of congenital malformations, classified as rare diseases. It appears in one child in 15,000–25,000 births. The disorder is caused by deletion of chromosome 17p11.2 or mutations in the RAI gene. The image of the disfunction is heterogeneous and includes numerous neuropsychological deficits. Changes in the chromosomal system lead to phenotypic changes typical for this syndrome, delayed psychomotor development, delayed speech development, intellectual disability, and emotional and behavioural disorders. The Smith–Magenis syndrome also includes serious sleep disorders. This paper presents the clinical case of a girl with Smith–Magenis syndrome. The aim of this study is to increase theoretical and practical clinical knowledge about this disorder, and to understand characteristic features of the child’s functioning based on neurological, neuropsychological and behavioural symptoms.

Keywords: Smith–Magenis syndrome, SMS, chromosome 17, sleep disorders