Prospective Assessment of Risk Factors Influencing Facial Nerve Paresis in Patients after Surgery for Parotid Gland Tumors.

Background and objectives: Facial weakness is the most important complication of parotid gland tumor surgery. The aims of this study are as follows: (1) assessment of the prevalence of postparotidectomy facial nerve dysfunction; (2) clinical and electrophysiological assessment of the facial nerve function before parotidectomy and at 1 and 6 months postoperatively; (3) assessment of the association of postoperative facial palsy with selected risk factors; and (4) assessment of the correlation between the results of clinical and neurophysiological assessments of facial nerve function. Materials and Methods: This study comprised 50 patients (aged 24-75 years) who underwent parotidectomy at the Department of Otolaryngology and Laryngological Oncology in Zabrze, Poland between 2015 and 2017. The evaluation included neurological, clinical and electrophysiological assessments of the facial nerve prior to surgery and at 1 and 6 months postoperatively. Results: No facial palsy was found preoperatively or 6 months postoperatively. Facial nerve dysfunction was found in 74% of patients 1 month postoperatively. In most cases (54%), paresis was mild or moderate (House-Brackmann grades II and III). The results of electrophysiological tests before parotidectomy were either normal or showed some mild abnormalities. We found a statistically significant correlation between the clinical assessment of the facial nerve function (based on the House-Brackmann scale) one month postoperatively and the latency of the CMAP response from the orbicularis oculi and orbicularis oris muscles. In all three studies, a statistically significant correlation was found between the amplitude of the compound muscle action potential (CMAP) of the orbicularis oris muscle and the degree of facial nerve weakness. Conclusions: The factors that may influence the risk of postoperative facial nerve paralysis (prolonged surgical time and the size and location of the tumor other than in the superficial lobe only) may indirectly suggest that surgery-related difficulties and/or surgeon experience could be crucial to surgery safety.

Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes.

INTRODUCTION: In this study we describe a patient with gross deletion containing the BTK and TIMM8A genes. Mutations in these genes are responsible for X-linked agammaglobulinemia and Mohr-Tranebjaerg syndrome, respectively. X linked agammaglobulinemia is a rare primary immunodeficiency characterized by low levels of B lymphocytes and recurrent microbial infections, whereas, Mohr-Tranebjaerg syndrome is a progressive neurodegenerative disorder with early onset of sensorineural deafness. MATERIAL AND METHODS: For neuroimaging, the magnetic resonance imaging and magnetic resonance spectroscopy of the brain were performed. Microarray analysis was performed to establish the extent of deletion. RESULTS: The first clinical symptoms observed in our patient at the age of 6 months were connected with primary humoral immunodeficiency, whereas clinical signs of MTS emerged in the third year of live. Interestingly, the loss of speech ability was not accompanied by hearing failure. Neuroimaging of the brain suggested leukodystrophy. Molecular tests revealed contiguous X-chromosome deletion syndrome encompassing BTK (from exons 6 through 19) and TIMM8A genes. The loss of the patient's DNA fragment was accurately localized from 100 601 727 to 100 617 576 bp on chromosome's loci Xq22.1. CONCLUSIONS: We diagnosed XLA-MTS in the first Polish patient on the basis of particular molecular methods. We detected neurodegenerative changes in MRI and MR spectroscopy in this patient. Our results provide further insight into this rare syndrome.

Feeding problems in children with neurological disorders.

INTRODUCTION: The aim of this study was to evaluate the prevalence of selected risk factors of weight deficiency in children with chronic metabolic diseases. MATERIAL AND METHODS: The study group involved 160 children, from 2 months to 15 years (mean age 3.14 years), with diseases of the nervous system and body weight deficiency. According to the type of neurological disease the following groups of patients were separated: static encephalopathies, progressive encephalopathies, disorders of mental development of undetermined etiology, genetically determined diseases. As the exponent of malnutrition, z-score of weight-for-age standards was used. An inclusion criterion for the study group was z-score of weight-for-age < - 2SD. The analysed risk factors of body weight deficiency were: mode of feeding children, neurological disorders, oral motor dysfunction, diseases of other organs, gastrointestinal motility disorders (oral cavity, esophagus, intestines) and type of nutritional therapy. RESULTS: The most advanced malnutrition was in children with progressive encephalopathies and genetically determined diseases. Seizures and muscular hypotonia were most common neurological disorders. Oral motor dysfunctions were observed in 40% of patients. CONCLUSIONS: Malnutrition in children with neurological disorders is associated mainly with neurological deficits. In this group of children monitoring of somatic development and early nutritional intervention are necessary.

[Back pain in children]. / Zespoly bólowe kregoslupa u dzieci.

Back pain and pain of the surrounding structures leads to significant diagnostic and therapeutic difficulties which result from a complex pathomechanism. They are the symptom of a large number of pathologic processes that may to a varying extent contribute to pain related manifestation of symptoms. In 80-90% of cases the cause of the back pain remains unknown, only in 10-20% adult patients it is feasible to establish the etiological factor during one year observation. Contrary to the situation in adults, in over 50% of children it is possible to identify the cause of the reported ailments. The authors present etiological factors and clinical symptoms in 44 patients, hospitalized because of back pain in Child Neurology Department of Medical University of Silesia in Katowice in the period between 2004 and 2007.

Clinical and neuropathological picture of familial encephalopathy with bifunctional protein deficiency.

Peroxisomal diseases are a heterogeneous group of genetic metabolic disorders which are caused by incorrect biogenesis of peroxisomes or a defect in activity of particular enzymes located in those organelles.D-bifunctional protein (D-BP) deficiency belongs to the second group of peroxisomal diseases characterised by dysfunction of a single peroxisomal enzyme. Bifunctional protein is a catalyst in the second and third stage of the beta-oxidation of fatty acids. Gene locus of bifunctional protein deficiency comprises chromosomes 5q2 and 3p23-p22. The authors present two siblings with progressing family encephalopathy. In the younger brother the diagnosis of a bifunctional protein deficiency was made. The girl died before a diagnosis was made;however, due to the presence of a very similar clinical condition a suspicion arises that the girl had a peroxisomal disease. In the siblings were ascertained characteristic dysmorphic features, delayed psychomotor development, polymorphic epileptic seizures and generalized muscular hypotonia with areflexia. The neuropathological findings were consistent in general with MRI findings showing features of hypomyelination. Also neuron heterotopias that were found in autopsy are a form of pathology typical for D-BP.

[Partial lipodystrophy with C3 complement deficiency in 8 years old girl]. / Zespól lipodystrofii ograniczonej - czesciowej, z niedoborem skladowej c3 dopelniacza u 8-letniej dziewczynki.

Lipodystrophy is a rare, heterogenic disorder, leading to the loss of adipose tissue. Several main types of the disease are distinguished according to age of onset and localization of fat atrophy. The authors present the case of 8 years old girl with partial lipodystrophy, C3 complement deficiency and autoimmunologic disorder.

[Opsoclonus-myoclonus syndrome in a 2 year old boy with prenatally diagnosed retroperitoneal tumour]. / Zespol opsoklonie-mioklonie (the opsoclonus-myoclonus syndrome- OMS) u 2-letniego chlopca z rozpozpoznanym prenatalnie guzem przestrzeni zaotrzewnowej

Opsoclonus-myoclonus syndrome, also named Myoclonic Encephalopathy of Infants, Opsoclonus- Myoclonus Ataxia, Dancing Eyes - Dancing Feet Syndrome, Dancing Eyes Syndrome, Kinsbourne syndrome, is a rare, paraneoplastic or possibly post-viral chronic neurological disorder. The age of presentation ranges from 6 months to 3 years. In 50% of affected children the syndrome is associated with an underlying occult or clinically apparent neuroblastoma. In most patients the tumour is localized, small and well differentiated, with no NMYC gene copy number amplification. The syndrome may also occur after tumour resection or at relapse. The opsoclonus-myoclonus syndrome can occur in children without neuroblastoma, in such idiopathiccases, the onset of neurological symptoms is related to infection. It is assumed, that in idiopathic cases the syndrome could have developed in the course of neuroblastoma which had undergone a complete spontaneous regression. The most characteristic clinical features of opsoclonus-myoclonus syndrome are: opsoclonus, myoclonus, ataxia, irritability, mutism and sleep disturbances. The disease course is usually long-term with episodes of remission and relapses. Approximately 80% of children with opsoclonus-myoclonus syndrome suffer from mild to severe neurological handicaps, mainly cognitive impairment. The authors present a 2-year old boy with opsoclonus-myoclonus syndrome preceded by involution of prenatally documented retroperitoneal area tumour.

Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma.

Increased ethylmalonic acid (EMA) in urine is a non-specific finding, and is observed in a number of inborn errors of metabolism, as well as in individuals who carry one of two common polymorphisms identified in the SCAD coding region. The authors present an 8-month-old girl with a suspicion of neuroinfection, although the clinical presentation led to diagnosis of ethylmalonic aciduria. From the neuropathological point of view the most remarkable changes were observed in the brain cortex, which was diffusely damaged practically in all regions of the brain. Of note, the most severe destruction was observed in the deepest regions of the sulci. The cortex of the affected regions showed no normal stratification and its structure was almost totally replaced by a form of "granulation tissue" with a markedly increased number of capillaries. To the authors' knowledge this is the first clinical report of ethylmalonic aciduria with brain autopsy findings.