Tick-borne encephalitis in children. / Skogflåttencefalitt hos barn.

The incidence of tick-borne encephalitis in Norway is increasing. The risk of infection shows considerable geographical variations, with clusters of cases in certain municipalities in the counties of Agder, and Vestfold and Telemark. There is also a major variation in clinical presentation. Only a small number of cases of tick-borne encephalitis in children have been reported in Norway, and the condition may be underdiagnosed. We present a clinical review, including two case studies, that focuses on the clinical presentation and diagnosis of tick-borne encephalitis in children.

Dopa-responsive dystonia. / Doparesponsive dystonier.

BAKGRUNN: Doparesponsiv dystoni er en gruppe sykdommer som gir endrede nivåer av nevrotransmittere. Dette kan behandles med god effekt. Økt innsikt i patofysiologiske årsaksforhold har bedret forståelsen av sykdommene. KUNNSKAPSGRUNNLAG: Artikkelen bygger på 39 artikler fra et systematisk søk i databasen Medline, to nettsteder og en lærebok. RESULTATER: Doparesponsiv dystoni debuterer som oftest i barne- eller ungdomsårene og gir motoriske, kognitive, psykiatriske og/eller autonome symptomer og funn. Disse kan være uspesifikke og lett mistolkes som annen nevrologisk sykdom. Sykdommen skyldes feilkoding i ett enkelt gen og arves autosomalt recessivt eller dominant. Sykdomsgivende varianter er beskrevet fra tre ulike gener: guanosintrifosfat (GTP)-syklohydrolase-1-genet, sepiapterinreduktase-genet og tyrosinhydroksylase-genet. De sykdomsgivende variantene fører til enzymdefekt og gir tidlig debuterende dystoni, som responderer godt på levodopa. Nivåbestemmelse av pteriner, biogene monoaminer og deres metabolitter i spinalvæsken samt genetiske undersøkelser gir den eksakte diagnosen. FORTOLKNING: Dagens kunnskap baserer seg på kasuistikker og mindre pasientmaterialer. Her fremgår det at pasientgruppen har stor nytte av levodopa. Diagnostikken har blitt enklere de siste årene med nyere biokjemiske og molekylærgenetiske analysemetoder. Basert på dagens litteratur er det grunn til å tro at vi har udiagnostiserte pasienter i Norge med doparesponsiv dystoni.

Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.

AIM: The aim of this study was to characterize patients diagnosed with glucose transporter protein-1 deficiency syndrome (GLUT-1 DS) clinically and genetically, and to evaluate the effect of treatment with the classic ketogenic or modified Atkins diet. METHOD: We retrospectively studied medical records of 10 patients diagnosed with GLUT-1 DS. Four females and six males with a median age of 15 years were included. RESULTS: The study illustrates the genetic and clinical heterogeneity of GLUT-1 DS. Analysis of the SLC2A1 gene disclosed a variety of mutation types. The time between onset of symptoms and diagnosis was more than 11 years on average. The outcome in those with early diagnosis and intervention was surprisingly good. All but one patient with the classic phenotype became seizure free after treatment with the classic ketogenic or modified Atkins diet. Acetazolamide was effective in one patient with paroxysmal exercise-induced dyskinesia. A point prevalence of GLUT-1 DS in Norway was estimated as 2.6 per 1,000,000 inhabitants. INTERPRETATION: Although the long-term prognosis in patients with GLUT-1 DS partly depends on the underlying genetics, our study supports the assumption that early initiation of treatment with a ketogenic diet may positively affect the outcome.

[Increased detection of malformations of kidneys and the urinary tract]. / Flere påviste misdannelser i nyrer og urinveier.

BACKGROUND: Congenital malformations of the kidneys and urinary tract may have changed over time. MATERIAL AND METHODS: Data for diagnosis, treatment and results were retrospectively recorded in children born in one of three Norwegian counties 1987-2006; their age at time of recording was from 1 to 21 years. RESULTS: 389 of 142 986 (2.7 per 1000) live born children had malformations of the kidneys and/or urinary tract. The prevalence was higher for children born in the period 1997-2006 (241/70 217; 3.4 per 1000) than in 1987-1996 (148/72 769; 2.0 per 1000), p< 0.0011. The percentage of children with anomalies diagnosed prenatally increased significantly from the first born 10-year cohort (35/148; 24 %) to the last (125/241; 52 %), p < 0.0011. Urosepsis occurred in 8 (1.1 per 1000) patients in the first 10-year cohort and in 9 (1.3 per 1000) patients in the last cohort (p = 0.75). 137 (35 %) patients had undergone surgery, of whom 68 (0.9 per 1000) were born 1987-96 and 69 (1 per 1000) were born 1997-2006. Chronic renal failure developed in 6 patients (0.1 per 1000) in each 10-year cohort; 4 (0.05 per 1000) and 11 (0.16 per 1000) patients died in the two cohorts (p = 0.07) respectively. INTERPRETATION: More frequent use of prenatal ultrasound screening has caused a 69 % increase in the prevalence of malformations in kidneys and the urinary tract. The number of patients treated by surgery, deaths and the prevalence of urosepsis and chronic renal failure has remained unchanged. This may indicate increased detection of less severe malformations.