Hypophosphatasia mimicking hypoxic-ischaemic encephalopathy: early recognition and management

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.

Automated summary

Hypophosphatasia (HPP) is a rare inherited disorder affecting bone and teeth development, with perinatal HPP being the most severe form. This study presents a rare case of a baby boy who developed respiratory distress, hypotonia, and seizures shortly after birth, leading to a diagnosis of HPP through low ALP activity and abnormal bone mineralization. Early recognition of HPP's clinical and biochemical features is crucial for timely initiation of life-saving treatment.