We have just admitted a 37+1 weeker. No - what so ever- respiratory effort at birth and now - normal pH 7,29 (v) in umbillical sample. Mum, grand mum (and may be way back "muscle-weakness" in the family) . No family diagnosis (she's from Bosnia). HE's on ventilator now - and - in that sense doing very well - but no respiratory efforts at all. NO movements. . Where to start? Dystonia myotonica I/II (bloodsample sent today). Muscle biopsi now or wait ( he's day 3)???

Thanks for comments and suggestions on diagnosis and evalution.


Lars

We had a similar case in out Dept 2 months ago. I would suggest some metabolic exams (aminoacidemia, Acilcarnitine profile, but more important aminoacids analisys in liquor - suspected Non-ketotic hyperglicinemia - nkh) Aldo new metabolic disease: dose vit b12 and vit b9-folic acids. MRI plus spectrography could be useful.

In pubmed you can find reviews on "neonatal hypotonia" very useful (sorry, but now i'm at home after the night shift)

Any news?