Bilateral facial nerve palsy in the course of neuroborreliosis in children-dynamics, laboratory tests and treatment.

PURPOSE: Presentation of four patients with bilateral peripheral facial nerve palsy as a clinical manifestation of neuroborreliosis in children--diagnostic, treatment and prognosis. MATERIAL AND METHODS: In 2002-2004 in The Chair and Department of Developmental Neurology, 24 children from the Wielkopolska region were admitted with diagnosis of borreliosis. Among all the children with borreliosis, confirmed by serologic examination, 4 (16.7%) demonstrated bilateral peripheral facial palsy (PFP). We investigated the presence of IgM class and IgG class specific antibodies in the sera and cerebrospinal fluid (CSF) of 4 patients with bilateral PFP. (Detected by immunoenzymatic methods--ELISA.) RESULTS: Before the occurrence of PFP all the children manifested unspecified systemic symptoms such as headaches, muscle and articulation pains, weakness and in two cases a mood depression. At first all patients demonstrated elevated IgM antibodies and proper levels of IgG antibodies. Control tests administered within 2-14 months later reduction of antibodies was indicated. Two patients demonstrated significant pleocytosis in CSF test, (without the meningeal symptoms). All children were treated with physiotherapeutic procedures and were administered antibiotic intravenously. CONCLUSIONS: PFP is one of the most frequent neurological symptoms of borreliosis in children. In case of acute PFP and especially the bilateral form of PFP, neuroborreliosis is the most probable diagnosis. All children reported PFP at one side first and after several weeks the paresis of the facial nerve on the opposite side usually appeared. The clinical state of children started to improve after the introduction of physiotherapy and this process usually lasted several months.

[Diagnostic value of sleep deprivation as the EEG activation method in diagnosis of epilepsy in developmental age]. / Wartosc diagnostyczna deprywacji snu jako metody aktywacji EEG w rozpoznawaniu padaczki w wieku rozwojowym.

The paper presented the significance of EEG activation in diagnosing epilepsy in children and adolescents. EEG records of 108 patients between 3-19 years of age with the occurrence of various types of paroxysmal disorders who were admitted to Chair and Department of Developmental Neurology University of Medical Sciences in Poznan were analysed. Standard EEG was administered to all children twice: the first examination at rest with hyperventilation (HV) and photostimulation (FS) and the second one after total or partial sleep deprivation (DS). At awaking state normal records were stated in 57% of cases, in 15% paroxysmal changes in HV or FS appeared, in the rest of cases (28%) generalised paroxysmal disorders, localised changes, lateralised or diffused were noted. Among EEG activation methods DS occurred to be the most effective after it, 52 patients (48%) were diagnosed for generalised paroxysmal changes, 20% for localised, 3% lateralised and for 6% for diffused changes. Normal EEG were recorded in 22% of examined children and adolescents. The epilepsy were diagnosed in 59 (55%) of patients mostly with generalised seizures (28) partial secondarily generalised (16) and partially complex (11). In 49 (45%) children were diagnosed with other paroxysmal disorders.

[Molecular-genetic characteristics of mutations in dystrophin gene and clinical symptoms in Duchenne muscular dystrophy]. / Molekularno-genetyczna charakterystyka mutacji w genie dystrofiny (DMD), a obraz kliniczny dystrofii miesniowej Duchenne'a.

The purpose of this paper is the estimation of the interrelationship of molecular findings with clinical studies on Duchenne muscular dystrophy (DMD), the estimation of molecular genetic findings efficiency focused on the diagnosis and the prognosis and carrier detection in relatives with recommendation of prenatal diagnosis possibilities. DNA isolated from peripheral blood lymphocytes of 100 patients was examined. DNA analyses was performed by multiplex PCR for promoter and 21 exons of DMD gene in regions where mutations are most frequent. Deletions were detected in 55% of the cases. In cases with no deletions detected, PCR-SSCP and PCR-HD analysis were performed in order to detect point mutations. For selected introns and exon 48 the occurrence of the previously described polymorphism was confirmed. Mutation causing formation of shortened protein was detected in exon 6 of two patients. Point mutation analysis is important complement of molecular diagnostics of Duchenne muscular dystrophy in patients with no deletions. For each family at risk of DMD the analysis of mutant allele was performed and carrier status evaluated.

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

We performed a comprehensive analysis for mutations in the TSC1 gene using Southern blot analysis, and SSCP and heteroduplex analysis of amplified exons in 13 families with genetic linkage to the TSC1 region, 22 small families without linkage information, and 126 sporadic patients. 17 unique mutations were identified in 21 patients. Mutations were found in 7/13 (54%) TSC1-linked families, 1/22 (5%) small families without linkage, and 13 of 126 (10%) sporadic cases. The mutations were all chain-terminating, with 14 small deletions, 1 small insertion, and 6 nonsense mutations. In families with mutations, all individuals carrying a mutation met formal diagnostic criteria for TSC, apart from a 3-year-old girl who had inherited a deletion mutation, and who had no seizures, normal intelligence, normal abdominal ultrasound, and hypomelanotic macules only on physical exam. We assessed the incidence and severity of mental retardation in the 13 sporadic patients with TSC1 mutations versus the entire sporadic cohort, and found no significant difference. The observations indicate that TSC1 mutations are all inactivating, suggest that TSC1 disease occurs in only 15-20% of the sporadic TSC population, and demonstrate that presymptomatic TSC does occur.

[The Landau-Kleffner syndrome. SPECT and EEG investigations]. / Zespól Landaua i Kleffnera. badania SPECT i EEG.

Four children (three boys and one girl) with acquired epileptic aphasia (the Landau-Kleffner syndrome) have been observed in the Department of Developmental Neurology University of Medical Sciences in Poznan. We present the dynamic of clinical symptoms and fluctuations in EEG studies. The changes in the brain in single photon emission computed tomography (SPECT) during remission of clinical symptoms are discussed.

[A case of multiple neoplasm metastases to the brain with few clinical symptoms]. / Skapoobjawowy przypadek kilkudziesieciu przerzutów nowotworowych do mózgu.

In the reported case 74 malignant metastases were found in the brain. The primary tumour was a bronchogenic carcinoma. The clinical symptoms were scant and were restricted mainly to those produced by involvement of the pons without evidence of intracranial hypertension. In the discussion the only relative value of laboratory investigations is stressed, including computerized tomography. The case deserves publication in view of rare occurrence of such oligosymptomatic course despite a high number of metastases.

Morphology and histochemistry of the thalamus in the course of intoxication by ethyl-mercury-p-toluenesulphanilide (EMTS).

Organic Mercury compounds are known for their neurotoxicity. From our previous studies it appeared that a variable degree of damage is brought about in the individual structures of the CNS by ingestion of organic mercurials. A detailed study was undertaken on the histotopography of pathological changes occurring in the thalamus - the major integrator of various cerebral functions - following intragastric administration of EMTS, a fungicide widely applied in agriculture. Rats served as the experimental animals. They were treated intragastrically with a daily dose of 15 mg of EMTS over a period of 10 days ( the per os DL50 for rats is 100 mg/kg of body weight). The results of our study have revealed that chronic ingestion of large doses of EMTS brings about a considerable inhibition of the activities of AChE, BuTJ, acP and ATPase in many thalamic nuclei with a concomitant elevation of TPPase and NsE activities. There was considerable variation as to the degree of histoenzymatic changes in the individual thalamic nuclei. The accompanying glial reaction was evaluated aw well. An interpretation of the findings made in this study has been undertaken.

Histoenzymatic changes in the thalamic nuclei of rats intoxicated by phenyl-mercury acetate (PhMA).

The effect of ingestion of phenylmercury acetate (PhMA), a fungicide of wide agricultural application, on the histoenzymatic pattern of the thalamic nuclei was investigated. It has been shown that in rats administered via a gastric tube with 8 mg of PhMA for 10 consecutive days, a considerable drop of AChE, BuTJ, acP and ATPase activities in many thalamic nuclei was found. Beside the inhibition of many enzymes, TPPase and NsE activities were increased. The histoenzymatic response of the individual thalamic nuclei to PhMA intoxication was highly differentiated. A detailed list of results obtained are presented in tables I and II.

The effect of ethylmercury-p-toluenesulphanilide on the neurosecretory hypothalamic-hypophyseal system.

The effect of Ethylmercury-p-toluenesulphanilide on the neurosecretory function of the hypothalamic-hypophyseal system has been studied. The p-toluenesulphanilide of ethylmercury is a pesticide with fungicidal properties. The poison has been administered intragastrically for 10 days at a daily dose of 4 mg. The results of experiments presented herewith have shown that ingestion of EMTSA lead to an accumulation of neurosecretory material in the nerve cells of the supraoptic and paraventricular nuclei as well as in those of the neurohypophysis. In spite of the increased content of neurosecretory substances in the hypothalamic-hypophyseal system, the secretory cells of the supraoptic and paraventricular nuclei did not show any features of enhanced secretory activity. Basing on the observations made in this study an assumption was raised that the intragastric poisoning by EMTSA exerted an inhibitory effect on the release of ADH from the neurosecretory system. Intoxication by EMTSA induced only negligible degenerative changes in neurocytes of the hypothalamic nuclei.

The effect of intoxication by ceresan on the activity of phosphatases and esterases in the rat thalamus.

The effect of Ceresan (Methoxyethylmercury chloride) on the histoenzymatic pattern of the thalamus was studied. The experimental animals were treated intragastrically with 100 mg of Ceresan for 6 consecutive days, and the activity of various hydrolases of the thalamus was investigated histochemically. Ingestion of large doses of Ceresan caused widespread alterations in activity of the thalamic hydrolases. A generalized increase of activity was found with respect to TPPase, acP and NsE, while AChE, BuTJ and ATPase activities appeared distinctly reduced. The thalamic neuroglia of experimental rats demonstrated enzymic activities which could not be detected in control animals, and these were: AChE, NsE, acP and TPPase -- in astrocytes, and ATPase -- in oligodendroglia. The changes in the histoenzymatic pattern of the thalamus caused by Ceresan ingestion were topographically highly differentiated. The anterior and lateral nuclei of the thalamus seem to be more sensitive towards Ceresan intoxication than the posterior ones.

Cerebral changes in the course of intoxication with mercury phenylacetate.

A histoenzymic study of cerebral phosphatases and esterases was performed on rats subjected to experimental intoxication with mercury phenylacetate. Following intragastric application of mercury phenylacetate to experimental animals, decreased activities of cerebral ATPase, acP and AChE were observed. The intoxicated animals displayed enhanced cerebral TPPase and partially also NsChE activities. Apart from changes in the histoenzymic pattern of the experimental brains, the ingestion of mercury phenylacetate brought about evident morphological changes in form of neuronal vacuolisation and spongious degeneration of the white matter. The extent of morphological as well as histoenzymic alterations was dependent on the duration of the experimental poisoning.

Changes in the activity of hydrolytic enzymes in the brain of rats intoxicated by ethyl-mercury-p-toluene-sulfanilide.

A histochemical study concerning the activity of phosphatases and esterases of the brain has been undertaken in rats experimentally intoxicated by the fungicide ethyl-mercury-p-toluenesulfanilide (EMTS). The results have shown that compared with other mercury compounds, both organic and inorganic ones, such as corrosive sublimate and calomel, EMTS proved to be a less induced of alterations in the activity of cerebral hydrolases. The brains of animals intoxicated by EMTS revealed a notable decrease of ATP-ase and acid phosphatase activity as well as a moderate drop of AChE activity. Instead, the neuronal TPPase activity was distinctly elevated. Degenerative changes of neurons were observed in various regions of the experimental brains, the pyramidal cells of the Ammon's horn being affected most severely.