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Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy
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Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy

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Hypophosphatasia mimicking hypoxic-ischaemic encephalopathy: early recognition and management

Aled Picton1, Ruchi Nadar2, Alexandra Pelivan1

  • 1Neonatal Unit, Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.

Archives of Disease in Childhood
|January 24, 2020
PubMed

Insights

Hypophosphatasia (HPP) is a rare inherited bone disorder. Early hypotonia can mimic hypoxic-ischaemic encephalopathy (HIE), highlighting the need for prompt HPP diagnosis and enzyme replacement therapy (ERT).

Area of Science:

  • Genetics
  • Pediatrics
  • Metabolic Disorders

Background:

  • Hypophosphatasia (HPP) is a rare inherited disorder impacting bone and teeth development.
  • Perinatal HPP, the most severe form, presents with respiratory distress, skeletal abnormalities, and low alkaline phosphatase (ALP) activity, often leading to high mortality.
  • This condition results from mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP).

Observation:

  • A newborn male exhibited respiratory distress, hypotonia, and seizures shortly after birth.
  • Initial assessment suggested hypoxic-ischaemic encephalopathy (HIE), prompting therapeutic hypothermia.
  • Subsequent investigations revealed low ALP activity and abnormal bone mineralization, confirming a diagnosis of HPP.

Findings:

  • Early hypotonia and acidosis in a neonate can clinically mimic HIE.
  • Timely identification of HPP's biochemical (low ALP) and radiological features is crucial.
  • Enzyme replacement therapy (ERT) was initiated on day 5 of life, representing a significant advancement in treatment accessibility.

Implications:

  • Early recognition of atypical HPP presentations is vital for differentiating it from HIE.
  • Prompt diagnosis and initiation of life-saving ERT can significantly improve outcomes for infants with perinatal HPP.
  • This case underscores the importance of comprehensive diagnostic approaches in neonatal critical care and the impact of accessible ERT.
Abstract

Keywords:
bone diseasebone metabolismneonatologytherapeutics

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