Atypical clinical presentation mimicking stroke in an adult patient caused by a rare diffuse leptomeningeal glioneuronal tumour.

A diffuse leptomeningeal glioneuronal tumours (DLGNT) are very rare tumours of the central nervous system, typically characterized by enhancement of subarachnoid space with cystic lesions, diffuse leptomeningeal infiltration, and no primary mass. We report an atypical clinical presentation of DLGNT. A 48-year-old male was admitted to hospital with symptoms of ischaemic stroke. Magnetic resonance imaging of the head revealed contrast enhancement of the meninges and other parts of the brain. A stereotactic frame biopsy was performed on the patient, which revealed the DLGNT. Diffuse leptomeningeal glioneuronal tumours are mostly seen in individuals less than 18 years old and are characterized by slow growth and low-grade histological appearance. Diffuse leptomeningeal glioneuronal tumours can be aggressive in adults.

Metagenomic Analysis of Cerebrospinal Fluid from Patients with Multiple Sclerosis.

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of central nervous system of unknown etiology. However, some infectious agents have been suggested to play a significant role in its pathogenesis. Next-generation sequencing (NGS) and metagenomics can be employed to characterize microbiome of MS patients and to identify potential causative pathogens. In this study, 12 patients with idiopathic inflammatory demyelinating disorders (IIDD) of the central nervous system were studied: one patient had clinically isolated syndrome, one patient had recurrent optic neuritis, and ten patients had multiple sclerosis (MS). In addition, there was one patient with other non-inflammatory neurological disease. Cerebrospinal fluid (CSF) was sampled from all patients. RNA was extracted from CSF and subjected to a single-primer isothermal amplification followed by NGS and comprehensive data analysis. Altogether 441,608,474 reads were obtained and mapped using blastn. In a CSF sample from the patient with clinically isolated syndrome, 11 varicella-zoster virus reads were found. Other than that similar bacterial, fungal, parasitic, and protozoan reads were identified in all samples, indicating a common presence of contamination in metagenomics. In conclusion, we identified varicella zoster virus sequences in one out of the 12 patients with IIDD, which suggests that this virus could be occasionally related to the MS pathogenesis. A widespread bacterial contamination seems inherent to NGS and complicates the interpretation of results.

Paraneoplastic brainstem encephalomyelitis and atypical form of chronic inflammatory demyelinating polyneuropathy in patient with testicular germinal tumor-is this an overlap syndrome? a case report.

Paraneoplastic neurologic syndromes are diagnosed when neurologic symptoms are associated with neoplasm and other causative factors are excluded. They may precede or be simultaneous to various types of neoplasms, mainly malignant. In men up to 45-50 years old the most common cancer causing the paraneoplastic syndrome is testicle tumor, manifesting usually as limbic/brain stem encephalitis and myelitis. Usually effective treatment of underlying neoplasm brings resolution of neurologic symptoms. But corticosteroids and intravenuous immunoglobulins are also used. In the presented case a 37-year-old man was primarily diagnosed and treated for progressive tetraparesis with signs of both upper and lower motor neuron dysfunction, associated with bulbar symptoms. Having various diagnostic procedures performed an atypical form of chronic inflammatory demyelinating polyradiculoneuronopathy was primarily suspected, but eventually a discovery of endodermal sinus tumor in the testicle enabled to state the diagnosis of possible paraneoplastic syndrome. In spite of chemotherapy the patient died shortly after the diagnosis because of infectious complications. Histopathology displayed intense inflammatory changes in the brain stem as well as in cranial nerves and cervical spinal cord. The same immunological process evoked by various pathogenetic factors (infection vs. neoplasm) may cause similar clinical picture and hinder the diagnosis. Most importantly it may delay the proper way of treatment.

Enlargement of the Nissl substance as a manifestation of early damage to spinal cord motoneurons in amyotrophic lateral sclerosis.

AIMS: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motoneurons. Recent studies indicate that in ALS, degeneration of motoneuron body is late in comparison to degeneration of axons. The morphological consequence of the axonal damage is chromatolysis. Therefore, loss of tigroid in motoneurons as a morphological manifestation of chromatolysis should be a prominent feature seen in an early stage of the disease. To verify that assumption we examined morphologically spinal cord motoneurons in patients with sporadic ALS. MATERIAL AND METHODS: In anterior horn motoneurons of 33 patients tigroid were assessed at light microscopy and morphometrically analyzed. Material was divided into an "acute" ALS group with a duration of the disease of up to 1 year, and a "chronic" ALS group with a clinical course lasting for 4 - 9 years. RESULTS: In the "acute" ALS group, loss of motoneurons was slight, and only a part of them showed central chromatolysis. Instead of chromatolysis the enlargement of the tigroid was found. This phenomenon was observed only in "acute" ALS and confirmed by morphometric analysis. CONCLUSIONS: In ALS, enlargement of the tigroid seems to be an early morphological feature - occuring earlier than central chromatolysis. Its presence may be connected with endoplasmic reticulum stress, disturbed axonal transport or functional compensation of the neuronal deficit.

[Searching for Tourette's syndrome gene. Part 1. Heterogeneity of clinical phenotypes]. / W poszukiwaniu genu zespolu Gilles de la Tourette'a. Czesc 1. Róznorodnosc fenotypów klinicznych.

The French neuropsychiatrist Georges Gilles de la Tourette described in 1885 the "Maladie des Tics" which later was named after him, as Gilles de la Tourette syndrome (GTS). Gilles de la Tourette syndrome is a neurodevelopmental disorder characterized by simple and complex motor and vocal tics with multiple neuropsychiatric comorbidities. GTS is often concurrent with obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD). There are several clinical GTS subtypes: GTS only, GTS+OCD, and GTS+OCD+ADHD. Additional clinical aspects of the disorder include occurrence of anger episodes, anxiety and mood disorders, and learning and sleeping disturbances. The genetics of GTS is complex and remains unclear. So far, no causative candidate genes have been identified. However, segregation studies in families and twins with GTS provide strong evidence for the existence of a genetic background associated with a multifactorial mode of inheritance. Progress in studies on genome variability among patients with GTS is necessary to improve pharmacotherapeutic strategies of the disorder.

[Searching for Tourette's syndrome gene. Part 2. Patient's genome variability]. / W poszukiwaniu genu zespolu Tourette'a. Czesc 2. Zmiennosc genomu chorych.

Gilles de la Tourette syndrome (GTS) is a complex, heterozygous genetic disorder. Twenty chromosomal rearrangements (7q22-q31, 8q13-q22, and 18q22) indicating genomic regions which may be involved in the etiology of the disorder have been reported in families with GTS. Moreover, pathogenic mutations responsible for GTS were found in the SLITRK1 and the L-histidine decarboxylase (HDC) genes. The W317X mutation in the HDC gene points to a possible role for histaminergic neurotransmission in the mechanism and modulation of tic disorder. The distribution of single nucleotide polymorphisms (SNPs) was examined in at least 14 candidate genes (DRD1, DRD2, DRD3, DRD4, DAT1, MAOA, 5HTR2A, 5HTR3A, TDO2, CNR1, HLA-DRB, IL1RA, MOG, and SGCE) using a case-control genetic association analysis. Still, a lack of replicated and consistent results was observed. Recently, rare structural variants of different genes involved in neurodevelopment determined by recurrent exonic copy number variations (CNVs) have been found in a subset of patients suffering from GTS.