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

Picton, Aled and Nadar, Ruchi and Pelivan, Alexandra and Garikapati, Vidya and Saraff, Vrinda (2020) Hypophosphatasia mimicking hypoxic-ischaemic encephalopathy: early recognition and management. Archives of disease in childhood. ISSN 1468-2044. This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using your UHB Athens login IDs.

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Official URL: https://adc.bmj.com/content/early/2020/01/22/archd...

Abstract

BACKGROUND

Hypophosphatasia (HPP) is a rare inherited disorder affecting bone and teeth development. Perinatal HPP is the most severe form and associated with a high mortality. Features include respiratory distress, skeletal abnormalities and low alkaline phosphatase (ALP) activity.

CASE

A baby boy developed respiratory distress, hypotonia and seizures within an hour of birth. Blood gas showed mixed acidosis and abnormal base deficit. Hypoxic-ischaemic encephalopathy (HIE) was suspected and managed with therapeutic hypothermia. Subsequent investigations identified low ALP activity and abnormal bone mineralisation, leading to a diagnosis of HPP. On day 5 of life, enzyme replacement therapy (ERT) was commenced, its first use via direct NHS England funding since UK licensing in 2017.

CONCLUSIONS

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.

Item Type: Article
Additional Information: This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using your UHB Athens login IDs.
Subjects: WS Paediatrics. Child health
Divisions: Womens and Childrens
Womens and Childrens > Neonates
Womens and Childrens > Paediatrics
Related URLs:
Depositing User: Mr Muneeb Liaquat
Date Deposited: 24 Jan 2020 14:17
Last Modified: 24 Jan 2020 14:17
URI: http://www.repository.uhblibrary.co.uk/id/eprint/2789

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