Guillain-Barré syndrome with central nervous system symptoms. Report of two cases

Guillain-Barré syndrome - acute inflammatory demyelinating polyradiculoneuropathy - is characterized by symmetrical flaccid paresis of limbs and areflexia or hyporeflexia which progress over a few days, up to 4 weeks. The central nervous system lesion is rarely reported in the course or treatment of the disease. In the paper two cases of patients with diagnosed Guillain-Barré syndrome with the central nervous system manifestations were discussed. A case of a 55-year-old woman was presented, who during hospitalization, on the last day of intravenous immunoglobulin therapy developed a hallucinatory syndrome. Furthermore, a case of a 18-year-old female patient with classic features of Guillain-Barré syndrome was described, because of its atypical initial presentation (headache, drowsiness and meningismus).     

Usefulness of new vitreous substitutes (F6H6, F6H8) in the vitreoretinal surgery

The authors present a short review of the news from Polish and foreign medical literature on the subject of a new vitreous substitutes. They present mainly a modern vitreous substitute F6H6 and F6H8, which can be used for a long-term tamponade for complicated retinal detachment.     

Influence of Eqb 761 on the function of the retina in children and adolescent with long lasting diabetes mellitus--preliminary report

PURPOSE: Early detection of patological function of the retina, before anatomical changes, plays very important role in monitoring of visual complications in patients with diabetes mellitus. The aim of the study was the evaluation of anatomical and functional changes in visual organ in children and adolescents with long lasting diabetes mellitus type 1 and taking Egb 761 (Tanakan Beaufour Ipsen) as an adjuvant. MATERIALS AND METHODS: Group consists of 15 patients, age between 11 and 19 years, with diabetes mellitus lasting 6-12 years. All patients had full ophthalmologic examination and color vision tests (Panel D 15 saturated and desaturated). The examination was done 3 times, every 3 months. Egb 761 was given: 1 tablet - 3 times a day, during 3 months. RESULTS: No diabetic retinopathy was found. The results of color vision test were better after therapy (25% of pathological results) and 3 months later (only 4 % of patients). CONCLUSIONS: 1. Egb 761 seems to be good adjuvant in patient with long lasting diabetes mellitus. 2. Color vision tests are sensitive tests of the retinal function and are easy to perform.     

Study of TIGR gene in patients with primary open angle glaucoma

PURPOSE: The aim of the study was to identify the mutations of TIGR gene in Polish patients with primary open angle glaucoma (POAG), and to define the genotype-phenotype correlation, between the type of mutation and the clinical picture of POAG. MATERIAL AND METHODS: The study included 45 patients with verified and proved diagnosis of POAG. DNA was isolated from peripheral blood lymphocytes of patients. The PCR amplification of all three exons of TIGR gene was done for every patient. The screening for the sequence changes in the PCR products of TIGR gene was done using conformation sensitive gel electrophoresis (CSGE). The probes with identified heteroduplexes were sequenced using an automatic DNA sequencer. RESULTS: During amplification of the coding regions of TIGR gene and the promoter sequences and flanking sequences of introns, 315 PCR products were obtained. The CSGE analysis of these PCR products allowed to detect 60 possible changes of sequence in 28 patients. 34 heteroduplexes were chosen for sequencing, including 29 unique changes and 5 changes representative for repeated, identical heteroduplexes. Direct sequencing allowed to detect only four different changes in TIGR gene sequence. Three of them: 5'UTR -83G-->A (present in 14 patients), +227 exon 1 G-->A, Arg76Lys (present in 14 patient) and +311 exon 3 T-->C, Tyr347Tyr (present in 4 patients) were already described in literature as neutral polymorphisms of TIGR gene. Only one change in promoter: 5'UTR 126T-->C (present in 2 patients) was not described in the literature to date. However, because this change doesn't alter directly the sequence of aminoacids in protein product of TIGR gene, it is very difficult to conclude its pathogenetic role. CONCLUSIONS: Our studies have shown no TIGR gene changes that can be recognized as causative mutations in development of POAG. Thus, the definition of any genotype-phenotype correlation was impossible. The study on the role of the change in promoter sequence that was not yet described, will be continued. Exclusion of TIGR gene mutations in Polish patients with POAG means that they probably have mutations in other genes, what paves the way to the studies on other loci that predispose to POAG.     

Striatal adenosine A(2A) receptor blockade increases extracellular dopamine release following l-DOPA administration in intact and dopamine-denervated rats

The influence of the selective adenosine A(2A) receptor antagonist ZM 241385 on exogenous l-DOPA-derived dopamine (DA) release in intact and dopamine-denervated rats was studied using an in vivo microdialysis in freely moving animals. Local infusion of l-DOPA (2.5 microM) produced a marked increase in striatal extracellular DA level in intact and malonate-lesioned rats. Intrastriatal perfusion of ZM 241385 (50-100 microM) had no effect on basal extracellular DA level, but enhanced dose-dependently the l-DOPA-induced DA release in intact and malonate-lesioned animals. A non-selective adenosine A(2A) receptor antagonist DMPX (100 microM), similarly to ZM 241385, accelerated conversion of l-DOPA in intact and malonate-denervated rats. This effect was not produced by the adenosine A(1) receptor antagonist, CPX (10-50 microM). However, ZM 241385 did not affect the l-DOPA-induced DA release in rats pretreated with reserpine (5 mg/kg i.p.) and alpha-methyl-p-tyrosine (AMPT, 300 mg/kg i.p.). Obtained results indicate that blockade of striatal adenosine A(2A) receptors increases the l-DOPA-derived DA release possibly by indirect mechanism exerted on DA terminals, an effect dependent on striatal tyrosine hydroxylase activity. Selective antagonists of adenosine A(2A) receptors may exert a beneficial effect at early stages of Parkinson's disease by enhancing the therapeutic efficacy of l-DOPA applied exogenously.     

Longitudinal follow-up of exocrine pancreatic function in pancreatic sufficient cystic fibrosis patients using the fecal elastase-1 test

BACKGROUND: A progressive decline in pancreatic function is possible in cystic fibrosis (CF) patients with exocrine pancreatic sufficiency. The secretin-cholecystokinin test is invasive and not acceptable as a repeatable procedure for children. Steatorrhea, conversely, has low sensitivity. Therefore, the aim of the present study was to evaluate the usefulness of the noninvasive fecal elastase-1 (E1) test for the longitudinal assessment of exocrine pancreatic function (EPF) in pancreatic-sufficient (PS) CF patients. METHODS: One hundred eighty-four CF patients were included in the study. In all subjects, E1 concentrations and fecal fat excretion were measured. PS patients were followed for 5 years. RESULTS: At the beginning of the study, 35 (19.0%) CF patients were PS, and 32 (17.4%) had normal E1 concentrations. Longitudinal measurements of E1 concentrations in PS patients with CF demonstrated stable enzyme output in 27 and gradual decrease in 8. The decrease was rapid in five infant patients and gradual in three older patients. The decrease of E1 concentrations preceded the appearance of steatorrhea in all eight subjects. CONCLUSIONS: The decline of EPF in patients with CF appears more frequently during the first months and years of life. However, late PS to pancreatic-insufficient (PI) conversion is also possible. The appearance of maldigestion is preceded by the decrease of fecal E1 concentration. Thus, the fecal E1 test is a helpful screening tool for the longitudinal assessment of declining EPF in PS patients with CF to demonstrate pancreatic deterioration. In suspected patients, fecal fat excretion should be assessed.     

Nephroblastoma in children aged less than 6 months at diagnosis

We present the results of treatment of kidney tumours in newborns and infants aged less than 6 months, in the years 1993-2000, from the Nephroblastoma Committee of the Polish Paediatric Group of Solid Tumours (PPGGL). We have analysed the diagnostic and treatment results in the group of 31 children aged 0 to 6 months. For 19 children registered between 1993 and 1996, event-free survival (EFS) and overall survival (AS) were assessed. Among 450 children registered between 1993 and 2000 by PPGGL and treated for kidney tumours, there were 31 (7.1%) newborns and infants aged below 6 months. The accuracy of diagnosis based on imaging studies was 97%. Only in one child the initial diagnosis of kidney tumour was not confirmed; cystic degeneration of kidney was finally established. The tumours removed during surgery were small, with average size 213 cm3, and in half of the cases the size of the tumour did not exceed 165 cm3. Primary complete excision of the tumour was performed in 21 children (67.7%). In 10 cases histopathology confirmed mesoblastic nephroma, in 19 cases nephroblastoma and in 2 cases sarcoma clarocellulare. In 10 infants (32.2%) with nephroblastoma delayed surgery preceded by chemotherapy was performed. Indications for initial preoperative chemotherapy comprised: tumour in a single kidney, tumour in a horseshoe kidney, preoperative diagnostic biopsy of the tumour and large tumour in neonates older than 3 months. In almost 70% of the children the stage of advancement was low (stage I and IIN-). Histopathology of excised tumours confirmed in 42% of cases low risk, and in 51.6% intermediate risk. Intraoperative complications occurred in 5 infants (16%). The tolerance of reduced chemotherapy by the infants was good. AS was 100%. ESF for the 19 children registered for nephroblastoma between 1993 and 1996 for all stages of advancement and types of histology was 94.75%. Conclusions: 1) Mesoblastic nephroma and low risk nephroblastoma are the most common tumours in children within the first three years of life. 2) The results of treatment of nephroblastoma in the youngest children (below 6 months of age) are the most favourable and represent world standards.3) Surgical complications in children operated primarily for nephroblastoma indicate the need of performing such operations in academic centres, specialised in newborn surgery. 4) In infants with extensive kidney tumours older than 3 months, primarily considered as inoperative, individual induction chemotherapy should be taken into account.     

Atypical phenylketonuria treatment effectiveness

Atypical phenylketonuria is the consequence of the deficiency of tetrahydrobiopterin (BH4) - cofactor of phenylalanine hydroxylation. The type of the disease depends on the metabolic defect of synthesis or regeneration of the cofactor. The secondary deficiency of neurotransmitters - dopamine and serotonin is the reason of very severe clinical course and brain damage. Ten cases of atypical phenylketonuria are presented: 8 of the defect of 6-pyrogronyl-tetrahydropterin synthase, 1 of dihydropteridine reductase, 1 of GTP cyclohydrolase. In 7 cases the diagnosis was confirmed by molecular studies. The age of the children at the time of diagnosis was from 3 weeks to 7 years. In 8 children pharmacological treatment was implemented without limitation of dietary intake of phenylalanine. Treatment period was from 9 months to 18.5 years. Treatment effectiveness is differentiated and independent of the age of diagnosis. Physical development in all but one patient is retarded and in all of them microcephaly is present. After treatment, mental development scores in 6 cases improved evidently (in 2 - up to normal values, in 4 - close to normal). No improvement was achieved in 2 cases (brothers). Detailed analysis of the clinical course in patients with similar age of diagnosis and start of treatment and with identical genotypes revealed significant differences in clinical course and treatment effectiveness. No explanation for this fact has been found.     

The influence of metabolic disturbances present in diabetes mellitus type I on vestibulo-spinal reflexes in children and young adults

Diabetic neuropathy encompasses various disturbances concerning somatic and autonomic nervous system and has significant impact on prognosis and course of diabetes mellitus. The aim of the work is an evaluation of vestibulo-spinal reflexes in children and young adults suffering from diabetes mellitus type 1. Material--95 children and young adults aged from 6 to 28 years with diabetes mellitus type 1 diagnosed. The control group consisted of 44 otoneurologically healthy subjects aged from 6 to 28 years. After detailed medical history collection and physical ENT examination stato-posturography was performed in each case. Posturographer PE 62 Model 04 was applied in the studies. Static posturography as well as dynamic one (one leg standing test) was performed in each case. 6 patients belonging to diabetic group complained about vertigo or dizziness. There were worse stabilograms parameters in diabetic group in comparison to control one, statistically significant in younger children. There were better stabilogram parameters in diabetic patients with longer history of the disease. The parameters analysed were significantly worse in the subgroup with not compensated diabetes. The parameters were slightly better in relation to the presence of hypoglycaemic incidents. No apparent differences in stabilograms parameters were present in relation to the presence of diabetic complications. Diabetes mellitus type 1 with slight or without complications does not have significant influence on vestibulo-spinal reflexes and posture stability of the patients. Balance organ disturbances in diabetes mellitus type 1 in children and young adults despite their presence have subclinical course. Perhaps one should consider monitoring of those disturbances in the course of the disease.