Hypotonia

[Guest LarsM]

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

[ctestolin]

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)

[ctestolin]

Any news?