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Supplementation in hypophosphataemic rickets: the bare bones of management
  1. Iona Natasha Mary Liddicoat1,
  2. Mark Peter Tighe2
    1. 1 Paediatric Research, Poole Hospital NHS Foundation Trust, Poole, UK
    2. 2 Paediatrics, Poole Hospital NHS Trust, Poole, UK
    1. Correspondence to Dr Iona Natasha Mary Liddicoat, Paediatric Research, Poole Hospital NHS Foundation Trust, Poole BH15 2JB, UK; ionaliddicoat{at}gmail.com

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    A female patient, born at 25 weeks’ gestation, had developed cerebral palsy, microcephaly, cystic periventricular leukomalacia, developmental delay and epilepsy. At 3 weeks, she had a significant bowel resection for necrotising enterocolitis, with 65 cm of small bowel remaining. She required total parenteral nutrition for several weeks. During her long recovery in neonatal intensive care, she developed feeding difficulties, diarrhoea and prolonged vomiting when the parenteral nutrition was weaned. She now has an unsafe swallow, severe reflux and is gastrojejunally fed, with exclusive elemental feed (Neocate). Of note, her medication currently includes Abidec®, cholecalciferol, clobazam and omeprazole.

    At 16 months of age, she presented to the children’s unit with a large bruise following venepuncture. Humeral X-ray showed a fracture over the bruise site, and further skeletal survey (figures 1–3) showed widespread rachitic changes. Relevant bloods are shown in table 1.

    Figure 1

    Anteroposterior (AP) X-ray right foot: first, third, fourth and fifth right metacarpal fractures.

    Figure 2

    X-ray right tibia with proximal tibial and fibular fractures. …

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    Footnotes

    • Contributors INML wrote the main draft of the epilogue. MPT identified the patient for this paper and critically revised it.

    • Competing interests None declared.

    • Patient consent Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; internally peer reviewed.

    • Data sharing statement There are no unpublished data from this epilogue.

    • Collaborators Iona Natasha Mary Liddicoat, Mark Peter Tighe, Sue Barraclough, Joseph Jacoby.