[Types of diagnosis in the outpatient practice during the years 2006-2007]. / Typy rozpoznan u dzieci objetych opieka Neurologicznych Poradni Przyklinicznych w latach 2006-2007.

INTRODUCTION: In recent years significant increase of children reffered to neurological consultations has been observed. Also structure of diagnosis has changed fundamentally. AIM: The aim of the study was to reveal differentiated structure of diagnosis in children reffered to neurology outpatient clinics during 2 years of their work. MATERIAL AND METHODS: Analysis included medical documentation of 18127 children aged 1-18 years, patients of Neurology Outpatient Clinic, Headache Outpatient Clinic and Neuromuscular Diseases Outpatient Clinic. These outpatient clinics are under supervision of Pediatric Neurology Clinic of Chair of Pediatric and Adolescent Neurology, Jagiellonian University. RESULTS: The most numerous group consisted of children with paroxysmal events (11192, 61.74%). Diagnostics performed in outpatient clinics or during hospitalisation enabled to diagnose epilepsy in 52.42% and in remaining 9.31% other paroxysmal events: syncopes, tics, febrile convulsions, breath-holding spells, sleep disorders, night terrors, infantile masturbation and pseudoepileptic seizures. Second, in respect to number, group included children with headaches. Majority of them were reffered after exclusion of laryngological and ophtalmological causes of headaches. Specialist neuroimaging examinations, EEG examination and psychological consultations enabled to diagnose tension-type headaches in most cases, less often migraine and sporadically brain tumors were diagnosed. Another group enclose children with CNS lesions: fetopathies, congenital defects, cerebral palsy, metabolic and genetic disorders. Numerous group consisted of children with psychomotor retardation, emotional disorders, nocturnal enuresis, suspect of ADHD and scholar difficulties who needed longer development observation in order to establish final diagnosis. Group of children with neuromuscular diseases (375, 2.16%) was also differentiated. It consisted of children with muscular dystrophies and myopathies (50%), acquired peripheral mononeuropathies (post-traumatic, post-inflamatory and tunnel syndromes) and genetically determined and acquired polyneuropathies (45%) and also myasthenia and myasthenic syndromes (5%). CONCLUSIONS: Analysis of two years work of three specialist outpatient clinics revealed differentiated causes of consultations of treated children. Paroxysmal events and necessity of initial differential diagnosis performance were main problems of their work. Fast increase in number of children with headaches, scholar difficulties and suspect of ADHD has been observed.

[Clinical features of GM1 and GM2 gangliosidosis in own observation]. / Obraz kliniczny gangliozydoz GM1 i GM2 w materiale wlasnym.

BACKGROUND: Lysosomal enzyme defects leeds to intracellular storage and cause damage in many organs, almost always affects central nervous system. AIM. The aim of the study was to reveal the location and clinical characteristics of gangliosidosis in pediatric neurology. MATERIAL AND METHODS: Gangliosidoses GM1 and GM2 (Sandhoff type) was diagnosed in 4 children, aged 1-13 years (mean 4,5 years), 2 girls and 2 boys. GM2 was diagnosed in 3 patients (early childhood in 2, juvenile in 1) and GM1 infantile form in 1, which was 0.024% of hospitalized children in 2007-2008. The diagnosis was made on the basis of blood leukocyte enzyme analyse. RESULTS: Clinical course of both type infantile gangliosidosis revealed to be similar. Psychomotor deterioration and symptomatic epilepsy were predominant symptoms as well as typical changes of eye fundus like cherry red spot. Juvenile type was less symptomatic, with tremor, dysarthria and ataxia. Neuroimage changes varied and were normal in some, with changes in corpus callosum and with distant changes in white matter and subcortical nuclei in others. CONCLUSIONS: Gangliosidosis should be suspected in adolescent with tremor, ataxia and dysarthria.