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Down and Prader Willi

Pontus Johansson
in Neurological Disorders

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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

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I am not aware of such a case, but I must ask what led you test for both conditions?

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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.

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