RESUMEN
PURPOSE: Presenting the case of unusual onset hypokalemic periodic paralysis (HypoPP) where myopathy had developed two years before paralysis occurred. MATERIAL AND METHODS: A Polish three-generation family with HypoPP and mutation in CACNA1S (R1239G) has been investigated. Clinical presentation with unusual onset of the disease, biopsy results and genetic research in one family member were described. CONCLUSION: HypoPP is a rare disease it needs to be taken into consideration not only in cases of paroxysmal weakness but also when there is myopathy of unknown origin.
Asunto(s)
Canales de Calcio/genética , Parálisis Periódica Hiperpotasémica/genética , Adolescente , Edad de Inicio , Canales de Calcio Tipo L , Niño , Preescolar , Femenino , Humanos , Masculino , Mutación , LinajeRESUMEN
PURPOSE: Cryptogenic epilepsy (CE) is defined as a partial or generalized epilepsy syndromes in which we can not point out any underlying cause. The role of neuropsychological assessment of "non-lesional" epilepsies is crucial not only to better control of different medical treatment but also to understanding the role of epilepsy for cognitive functions. The aim of the study was to compare the intellectual and cognitive functions between children with newly diagnosed cryptogenic partial epilepsy (CPE) children and the control healthy group. MATERIAL AND METHODS: 184 participants, 89 patients with cryptogenic partial epilepsy and 95 healthy children and adolescents, with ages ranging from 6-16 years were assessed on neuropsychological tests of general intellectual functioning and selected cognitive skills. RESULTS: There were significant differences found between groups for four examined functions. Children with CPE scored significantly lower in verbal and categorial fluency, visuoconstructional tasks, learning and memory than group of healthy children. There was no differences in general IQ level. CONCLUSIONS: Study of neuropsychological profile in newly diagnosed CPE can get us an information of influence of stable, related to illness factors and the paroxysmal activity on cognitive function. Neurological follow-up of children with CPE at the very beginning of diagnosis should include screening evaluation of cognitive functions to provide appropriate intervention.
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Epilepsia Parcial Compleja/fisiopatología , Epilepsia Parcial Compleja/parasitología , Adolescente , Niño , Humanos , Pruebas Neuropsicológicas , Proyectos PilotoRESUMEN
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.