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Limb-girdle muscular dystrophy 2D (LGMD2D) is caused by mutations in the alpha-sarcoglycan gene (SGCA). The most frequently reported mutation, 229CGC>TGC (R77C) in exon 3 of SGCA, results in the substitution of arginine by cysteine. We present here the clinical, immunohistochemical, and genetic data of 11 Finnish patients with LGMD2D caused by mutations in SGCA. Mutational analysis showed 10 patients homozygous and 1 compound heterozygous for R77C. A wide spectrum of SGCA mutations has been reported previously. Our results show an enrichment of R77C in Finland, further underlined by the observed carrier frequency of 1 per 150. According to the annual birth rate of approximately 60,000 in Finland, one LGMD2D patient with a homozygous mutation is expected to be born every 1 or 2 years on average. The presence of an ancient founder mutation is indicated by the fact that all patients shared a short common haplotype extending > or = 790 kilobases. Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well.

The Department of Paediatrics at the University Central Hospital of Turku, Finland has 130 000 children under 17 y of age within its catchment area. We collected all 103 cases of newly diagnosed CNS tumours from the 15-y period of 1981-95. The incidence was 5.3:100 000, a figure twofold those usually presented. During the period 1981-85 the incidence was lower (4) than during the subsequent 5-y periods (5.7 and 6.2). There were no statistical differences between the incidences of the supra- vs infratentorial brain tumours. Optic glioma was unusually common (17%, CI 13.9-20%). Children, CNS tumours, incidence, optic glioma.

Objective: To evaluate the occurrence and prognostic importance of focal defects in cerebral cortical glucose metabolism in infants with newly diagnosed symptomatic and cryptogenic infantile spasms. Patients and Methods: Ten children with symptomatic and seven with cryptogenic infantile spasms underwent MRI, video-EEG, and PET using fluorodeoxyglucose as a tracer within 2 weeks of diagnosis. PET was repeated at 1 year of age in 12 patients. Results: Cortical hypometabolic foci were found in 13 children (77%) with newly diagnosed spasms (six cryptogenic and seven symptomatic). The hypometabolic foci disappeared in seven of nine reexamined at age 1. The occipital foci disappeared in all (n = 6). Focal findings on PET correlated well with focal findings on video-EEG. There was no difference in quantitative cortical or subcortical glucose metabolic rate at the onset of infantile spasms between children with cryptogenic and symptomatic etiology of spasms. The glucose metabolic rate at the onset of spasms or focal lesions in glucose metabolism did not have prognostic value for seizure outcome. Conclusions: Infantile spasms are often associated with transient cortical, especially occipital, hypometabolic foci that are not necessarily associated with structural lesions and do not indicate a poor prognosis.

Respiratory rate (RR), transthoracic electric impedance (TEZ) and transcutaneous PO2 and PCO2 were monitored during the 5 first postnatal days in 54 neonates on three separate occasions. There was no difference in the overall RR between the term and healthy preterm babies on different days of recordings but RR of the babies with RDS (who were all ventilated) was lower on day 1 (p < 0.01). When the power spectrum of the TEZ respirogram was computed and the spectral density was divided into low-frequency (LF, < 0.20 Hz) and high-frequency (HF, > 0.20 Hz) areas, the LF/HF ratio of healthy preterm babies was greater than that of term babies on day 1 (p < 0.01). The preterm babies with RDS did not differ from the term babies in this respect. The LF/HF ratio was negatively correlated with gestational age and it had a positive correlation to PtcO2 (p < 0.05) and PtcCO2 (p < 0.01) (R2 = 0.07). The result evidences that the control of respiration changes in relation to maturity and the LF/HF ratio is a quantitative indicator of respiratory variability reflecting this development.