Last reviewed: 22 Dec 2021
Last updated: 12 Oct 2021

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • age <3 years
  • altered mental status: irritability/lethargy/coma
  • clinical findings inconsistent with carer history
  • retinal/vitreal haemorrhages or retinoschisis
  • apnoea

Other diagnostic factors

  • no known history of trauma
  • seizure
  • vomiting
  • loss of muscle tone
  • brisk or asymmetrical reflexes
  • unexplained bruising
  • increasing head circumference
  • bulging fontanelle
  • long-bone fractures
  • mucosal injury or torn labial/lingual frenulum
  • anogenital signs and symptoms

Risk factors

  • age <1 year
  • peak of normal crying curve
  • male carer
  • unrelated adult household member
  • male sex
  • socio-economic stressors

Diagnostic investigations

1st investigations to order

  • cranial CT scan
  • FBC
  • liver function tests
  • toxicology screen
  • prothrombin time (PT)/activated PTT/fibrinogen/von Willebrand’s testing
  • urinalysis
  • cerebrospinal fluid analysis
  • cranial MRI

Investigations to consider

  • spinal MRI
  • cranial ultrasound
  • skeletal survey
  • bone scintigraphy
  • blood culture
  • serum calcium
  • serum 1,25-dihydroxy vitamin D levels (calcidiol)
  • serum inorganic phosphorus
  • serum parathyroid hormone (PTH)
  • serum alkaline phosphatase
  • skin biopsy/fibroblast culture
  • post-mortem examination

Treatment algorithm

Contributors

Authors

Barney Scholefield, MBBS, BSc, MSc, MRCPCH, PhD

Consultant in Paediatric Intensive Care

NIHR Clinician Scientist

Birmingham Women’s and Children’s NHS Foundation Trust

Birmingham

UK

Disclosures

BS receives grant funding from the UK NIHR Clinician Scientist Fellowship programme.

Acknowledgements

Dr Barney Scholefield would like to gratefully acknowledge Dr Joe Brierley, Dr Gavin Wooldridge, and Dr Alice Newton, previous contributors to this topic.

Disclosures

JB, GW, and AN declare that they have no competing interests.

Peer reviewers

Amy Goldberg, MD

Attending Physician

Child Protection Team

Hasboro Children's Hospital

Assistant Professor of Pediatrics

Alpert Medical School

Brown University

Providence

RI

Disclosures

AG declares that she has no competing interests.

Rebecca Moles, MD

Division Chief

Child Protection Program

UMass Memorial Medical Center

Worcester

MA

Disclosures

RM declares that she has no competing interests.

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