SummaryThis prospective, clinical trial evaluated the effects of short-term propofol administration on triglyceride levels and serum pancreatic enzymes in children undergoing sedation for magnetic resonance imaging. Laboratory parameters of 40 children, mean age (SD; range) 67 (66; 4-178) months undergoing short-term sedation were assessed before and 4 h after having received propofol. Mean (SD) propofol loading dose was 2.2 (1.1) mg.kg )1 followed by continuous propofol infusion of 6.9 (0.9) mg.kg )1 .h )1 . Serum lipase levels (p = 0.035) and serum triglyceride levels (p = 0.003) were raised significantly after propofol administration but remained within normal limits. No significant changes in serum pancreatic-amylase levels were seen (p = 0.127). In two (5%) children, pancreatic enzymes and in four (10%) children triglyceride levels were raised above normal limits; however, no child showed clinical symptoms of pancreatitis. We conclude that even short-term propofol administration with standard doses of propofol may have a significant effect on serum triglyceride and pancreatic enzyme levels in children. Little is known about drug-induced pancreatitis, although it is reported to have been caused by over 85 different drugs [1,2]. Drug-induced pancreatitis is a relatively rare disorder, with a prevalence of 1.4% among patients presenting with acute pancreatitis from all causes [1]. Propofol, a sedative-hypnotic agent, is used for sedation as well as for induction of general anaesthesia in children and adults. Propofol is a lipid-based, global central nervous depressant which has a rapid onset of sedation with a dose-related hypnotic effect and a quick and smooth recovery profile. Dose dependent hypotension is the most common complication [3]. Hypertriglyceridaemia is another possible adverse effect [4][5][6][7][8][9][10]. Since its approval in 1989, there have been reports indicating a possible link between the use of propofol and the development of acute pancreatitis [11][12][13][14][15][16][17][18][19]. This was mostly in an intra-or postoperative setting and most of these patients received propofol continuously for several days. Furthermore, in these cases, a number of different drugs were co-administered, thus preventing the establishment of a clear causal link between propofol and the occurrence of acute pancreatitis [12,13,[15][16][17][18][19][20]. Recently, we reported a definite association between short-term propofol administration in an 11-year-old girl and the occurrence of acute pancreatitis [11].The mechanism of propofol-induced pancreatitis remains unknown. Although induction of hypertriglyceridaemia has been described and is therefore a suspected mechanism, it seems unlikely that short-term administration of propofol could raise serum lipid levels as much as to induce pancreatitis. To our knowledge, only one clinical trial (n = 21), focusing on pancreatic function in adult patients under postoperative sedation with propofol, has been published so far and no elevated markers of altered pancreatic ...

Muscle-eye-brain disease (MEB, OMIM 253280) is an autosomal recessive disorder characterized by a distinct triad of congenital muscular dystrophy, structural eye abnormalities, and cobblestone lissencephaly. Clinically, MEB patients present with early onset muscular hypotonia, severely compromised motor development, and mental retardation. Magnetic resonance imaging reveals a lissencephaly type II with hypoplasia of the brainstem and cerebellum. MEB is associated with mutations in the gene for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1, OMIM 606822). In this paper, we report the clinical findings of nine MEB patients from eight families. Eight of the nine patients presented typical features of MEB. However, a broad phenotypic variability was observed, ranging from two patients with severe autistic features to another patient with an unusually mild phenotype, initially diagnosed as congenital muscular dystrophy. Furthermore, severe hydrocephalus was reported in two families during a previous pregnancy, emphasizing the phenotypic overlap with Walker-Warburg syndrome. In addition to three previously reported mutations, we identified six novel POMGnT1 mutations (one missense, five truncating) in the present patient cohort. Our data suggest mutational hotspots within the minimal catalytic domain at arginine residue 442 (exon 16) and in intron 17. It is interesting to note that all mutations analyzed so far result in a complete loss of enzyme activity. Therefore, we conclude that the type and position of the POMGnT1 mutations are not of predictive value for the clinical severity. This supports the notion that additional environmental and/or genetic factors may contribute to the observed broad spectrum of POMGnT1-associated phenotypes.

No firm recommendations on the use of AVP/TP in children with severe forms of cardio-circulatory failure can be issued.

The routine performance of an EEG after MTBI in children is not indicated because in most of the cases it is unrevealing, and may lead to unnecessary diagnostic procedures. Instead, children with MTBI should be closely monitored for possible clinical complications and neurological deterioration.

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