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Investigation and inquest
On 7th February 2020 I commenced an investigation into the death of Alice Beatrice Pettersson, then aged 8 months. The investigation concluded at the end of the inquest on 10th June 2021.
Medical Cause of Death
I (a) Hypoxic Ischaemic Encephalopathy,
1b Cord compression,
1c Achondroplasia
How, when, where Alice Pettersson came by her death:
Alice Beatrice Pettersson died on 25th January 2020 at Great Ormond Street Hospital London
Conclusion of the Coroner as to the death:
Natural Causes
Circumstances of the death
Alice Beatrice Pettersson died on 25th January 2020 at Great Ormond Street Hospital London
The published report provides this section by reference to another part of the report.
Coroner’s concerns
Achondroplasia is the commonest type of skeletal dysplasia with 1 in 20,000 individuals affected.
These infants are at risk of sudden infant death most frequently attributed to foramen magnum stenosis (FMS).
There is no designated referral pathway for children with achondroplasia and general paediatric clinical teams are not always aware of the associated risks or clinical scenarios which should prompt immediate referral to centres of excellence.
No NICE or other national guidelines are currently available for the early evaluation and management of infants and children with Achondroplasia.
These children need access to centres of expertise as soon as a diagnosis is made or suspected. Parents need to be informed about the risk of sudden death due to foramen magnum stenosis and provided with training in basic life support and the use of lie-flat car seats.
Clear national guidelines should be available to local services with information on how to contact and urgently refer to expert centres for achondroplasia. MRI scanning and sleep studies need to be undertaken promptly. 50% of infants with achondroplasia have radiological evidence of FMS and in approximately a quarter there is compression of the spinal cord warranting neurosurgical intervention. Beatrice died, whilst travelling in a car, from cord compression due to undiagnosed FMS. Earlier diagnosis and advice may have prevented her death.