Pontus Johansson Posted September 28, 2020 Share Posted September 28, 2020 Dear Colleagues! Just a brief question if anyone (more than me) has met a baby with concomitant Mb Down and Prader Willi syndrome? This baby born at GW 30+1, initially severly sick with chylothorax which eventually resolved. Now at about 1 month corrected age with low flow O2, can´t really get off diuretics, feeding only by NG tube, hypotonia, normal heart. Just got the result about PW today and was curious about any other similar child "out there"? Regards Pontus Link to comment Share on other sites More sharing options...
bimalc Posted October 2, 2020 Share Posted October 2, 2020 I am not aware of such a case, but I must ask what led you test for both conditions? Link to comment Share on other sites More sharing options...
Pontus Johansson Posted October 2, 2020 Author Share Posted October 2, 2020 The baby was more hypotonic/ floppy than you usually see in a child with ”only Mb Down”. We also tested extensively for muscle diseases, metabolic abnormalites and other but this was what came out. Link to comment Share on other sites More sharing options...
Stefan Johansson Posted October 2, 2020 Share Posted October 2, 2020 Sounds like a case report. 1 Link to comment Share on other sites More sharing options...
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