Hypophosphatasia mimicking hypoxic-ischaemic encephalopathy: early recognition and management.

Aled PictonRuchi NadarAlexandra PelivanVidya Garikapati Vrinda Saraff

Published in: Archives of disease in childhood (2020)

Early hypotonia is an atypical presentation for perinatal HPP. Combined with acidosis and encephalopathy, it can clinically mimic HIE. Early recognition of biochemical and radiological features of HPP is essential for rapid diagnosis and timely initiation of life-saving ERT.

Keyphrases

early onset
replacement therapy
sensitive detection
quantum dots