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
Other diagnostic factors
- no known history of trauma
- apnoea
- 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 frena
- 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)/aPTT/fibrinogen/von Willebrand’s testing
- urinalysis
- CSF analysis
Investigations to consider
- cranial 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
Consultant in PICU
Senior Research Fellow
Birmingham Children’s Hospital
Birmingham
UK
Disclosures
BS receives grant funding from the UK NIHR Clinician Scientist Fellowship programme.
Dr Barney Scholefield would like to gratefully acknowledge Dr Joe Brierley, Dr Gavin Wooldridge, and Dr Alice Newton, previous contributors to this monograph. JB, GW, and AN declare that they have no competing interests.
Peer reviewers
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.
Division Chief
Child Protection Program
UMass Memorial Medical Center
Worcester
MA
Disclosures
RM declares that she has no competing interests.
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