A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

BACKGROUND: The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some that await further delineation. This report describes three children with de novo 17p13.1 duplications encompassing the PAFAH1B1 gene, who had similar phenotypic features, including mild to moderate developmental delay, hypotonia and facial dysmorphism, and compares them to the few previously reported cases with this duplication. METHODS: Multiplex ligation-dependent probe amplification (MLPA) or array-CGH was used to diagnose three developmentally delayed children with duplications of 17p13. The duplications were characterised further using Agilent array technology, revealing duplication sizes from 1.8 to 4.0 Mb, with a region of overlap corresponding to 1.8 Mb. Detailed clinical information was obtained from patient files and personal examinations. RESULTS: The developmental delay and similar clinical features in the three patients were most likely due to a common microduplication of 17p13. CONCLUSIONS: In contrast to patients with deletion of the region (Miller-Dieker syndrome) the patients reported here had mild to moderate retardation and displayed no lissencephaly or gross brain malformations. Further cases with similar duplications are expected to be diagnosed, and will contribute to the delineation of a potential new microduplication syndrome of 17p13.

Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring.

UNLABELLED: We report on a 32-y-old woman with Prader-Willi syndrome (PWS) and her daughter with Angelman syndrome (AS). PWS in the mother was confirmed as due to a deletion of 15q11-q13, and molecular analysis in the neonate indicated an inherited maternal deletion of the same region. Features of AS in early infancy, such as jerky movements, feeding problems and poor sleep, were observed. At 5 mo of age, a triphasic high voltage EEG pattern was reported. CONCLUSIONS: This case confirms the non-Mendelian inheritance of PWS and AS and, in addition to previous reports, provides evidence of fertility in PWS women. We recommend the provision of information regarding fertility in females with PWS to parents, guardians and individuals with PWS, and frequent EEG monitoring for early AS diagnosis. Given the different genetic aetiologies for PWS and AS, cytogenetic and molecular genetic analysis is strongly indicated for counselling and risk estimation.

[Hypoglycemia in the neonatal period. The need for blood sugar control]. / Hypoglykaemi i neonatalperioden. Behov for blodsukkerkontrol.

In order to evaluate the demand of blood glucose measurements (BG) in the neonatal period, a retrospective study of BG in 177 newborn babies was undertaken. Babies with birth weight less than 2,500 grams, gestational age (GA) less than 37 weeks, and/or a low birth weight in relation til gestational age were included in the study. Accordingly, the babies were grouped as appropriate for GA (AGA), small for gestational age (SGA), or large for GA (LGA). Neonatal hypoglycemia (NH), BG less than or equal to 1.4 mmol/l, was found in 33 babies. In 31 babies, NH occurred before 12 hours of age while six babies had recurrent NH. Correlation was seen between total number of clinical symptoms and NH, which was, as anticipated, commonest among preterm SGA-babies. The risk of subsequent NH in early fed low birth weight newborn seems to be very low, if NH has not appeared within the first 12 hours of life. After this time, serial blood glucose measurements only seem justified, if concomitant perinatal disease is present.

Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment.

Colchicine was administered to a 12 year old girl with familial Mediterranean fever and progressive renal insufficiency. There was immediate resolution of abdominal attacks together with a dramatic fall in the serum creatinine concentration and the degree of proteinuria. At the same time her severely impaired growth was stimulated.

Toxic effect of scopolamine eye drops in children.

Five children, admitted with acute psychotic reactions after use of Scopolamine eye drops 0.2%, are presented. The predominant symptoms were visual hallucinations, strange behaviour, and restlessness. In one case peripheral symptoms were observed. Recovery was complete in 24 h. Prescription of Scopolamine eye drops should be followed by information of possible adverse effects. Cyclopentolate might be used instead.