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Clinical overlap with abuse

The following is a summary of the systematic review findings up to the date of our most recent literature search. If you have a specific clinical case, we strongly recommend you read all of the relevant references as cited and look for additional material published outside our search dates.

 

  • Studies were only included if the children had one or more of the features considered to be associated with child abuse, as follows: fractures, bruising, intracranial bleeding
  • Please note that pre-existing known bleeding disorders were excluded from this review – see inclusion/exclusion criteria

 

RH were found in the following conditions

  • Metabolic conditions
    • Glutaric aciduria 7,10
    • Methylmalonic aciduria with homocysteinuria (Cobalamin C deficiency) 6,16
    • Congential disorder of glycosylation Type 1A 12
  • Osteogenesis imperfecta 8
  • Haematological conditions
    • Platelet function defect (Hermansky-Pudlak syndrome) 15
    • Protein C deficiency 3,9
    • Low fibrinogen levels 11
    • Haemorrhagic disease of the newborn (cardiopulmonary resuscitation also performed) 17
  • Vascular abnormalities
    • Fibromuscular dysplasia 5
    • Spinal cord arteriovenous malformation 4
    • Cerebral aneurysm (two cases), 1,2 arteriovenous malformation (two cases) 1,14
  •  Intracranial abnormalities
    • Case of external hydrocephalous* 13

* Correspondence with author confirmed the standard of ophthalmological examination met the inclusion criteria

 

 

Features of abuse

  • All of the children in the included studies had an intracranial haemorrhage 1-17
  • Nine had co-existent bruising where recorded 3,8,9,11,12,17
  • The three cases with osteogenesis imperfecta also had fractures present 8

 

Retinal haemorrhage findings

  • Retinal haemorrhages found were bilateral in 13/21 cases 1-8,11-17
  • They were located in the posterior pole in 8/12 (where location recorded) 2,7,8,10,12-16
  • They were predominantly intraretinal (13/14 – where recorded) 4-8,10,11,15-17, or subhyaloid 12,14
  • Only seven cases had multiple or extensive retinal haemorrhages 5,7,8,12-14,17 and in only three studies 1,5,13 were they in more than one layer, as has been recorded in abusive head trauma
  • In one case of cerebral artery aneurysm with intracranial haemorrhage an examination nine days after admission and postoperatively demonstrated extensive pre-retinal and intra-retinal haemorrhages in one eye 2
  • Subhyaloid haemorrhages in the child suffering from external hydrocephalous cleared within six months 13

 

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References

  1. Agrawal S, Peters MJ, Adams GG, Pierce CM. Prevalence of retinal haemorrhages in critically ill children. Pediatrics. 2012;129(6):e1388-e1396 [Pubmed]

  2. Bhardwaj G, Jacobs MB, Moran KT, Tan K. Terson syndrome with ipsilateral severe hemorrhagic retinopathy in a 7-month-old child. Journal of the American Association for Pediatric Ophthalmology and Strabismus. 2010;14(5):441-443. [Pubmed]

  3. Cassels-Brown A, Minford AM, Chatfield SL, Bradbury JA. Ophthalmic manifestations of neonatal protein C deficiency. British Journal of Ophthalmology. 1994;78(6):486-487 [Pubmed citation only]
  4. Clark RS, Orr RA, Atkinson CS, Towbin RB, Pang D. Retinal hemorrhages associated with spinal cord arteriovenous malformation. Clinical Pediatrics. 1995;34(5):281-283 [Pubmed citation only]
  5. Currie AD, Bentley CR, Bloom PA. Retinal haemorrhage and fatal stroke in an infant with fibromuscular dysplasia. Archives of Disease in Childhood. 2001; 84(3):263-264 [Pubmed]
  6. Francis PJ, Calver DM, Barnfield P, Turner C, Dalton RN, Champion MP. An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury. European Journal of Pediatrics. 2004;163(7):420-421 [Pubmed citation only]
  7. Gago LC, Wegner RK, Capone A Jr, Williams GA. Intraretinal hemorrhages and chronic subdural effusions: glutaric aciduria type 1 can be mistaken for shaken baby syndrome. Retina. 2003;23(5):724-726 [Pubmed citation only]
  8. Ganesh A, Jenny C, Geyer J, Shouldice M, Levin AV. Retinal hemorrhages in type I osteogenesis imperfecta after minor trauma. Ophthalmology. 2004;111(7):1428-1431 [Pubmed]
  9. Hattenbach LO, Beeg T, Kreuz W, Zubcov A. Ophthalmic manifestation of congenital protein C deficiency. Journal of AAPOS: American Association for Pediatric Ophthalmology and Strabismus. 1999;3(3):188-190 [Pubmed]
  10. Kafil-Hussain NA, Monavari A, Bowell R, Thornton P, Naughten E, O'Keefe M. Ocular findings in glutaric aciduria type 1. Journal of Pediatric Ophthalmology and Strabismus. 2000;37(5):289-293 [Pubmed]
  11. Marshman WE, Adams GG, Ohri R. Bilateral vitreous hemorrhages in an infant with low fibrinogen levels. Journal of AAPOS: American Association for Pediatric Ophthalmology and Strabismus. 1999;3(4):255-256 [Pubmed]
  12. Ong BB, Gole GA, Robertson T, McGill J, de Lore D, Crawford M. Retinal hemorrhages associated with meningitis in a child with a congenital disorder of glycosylation. Forensic Science, Medicine & Pathology. 2009;5(4):307-12 [Pubmed]

  13. Piatt JH Jr. A pitfall in the diagnosis of child abuse: external hydrocephalus, subdural hematoma, and retinal hemorrhages. Neurosurgical Focus. 1999; 7(4):e4 [Pubmed]
  14. Reddy AR, Clarke M, Long VW. Unilateral retinal hemorrhages with subarachnoid hemorrhage in a 5-week-old infant: is this nonaccidental injury? European Journal of Ophthalmology. 2010;20(4):799-801 [Pubmed]

  15. Russell-Eggitt IM, Thompson DA, Khair K, Liesner R, Hann IM. Hermansky-Pudlak syndrome presenting with subdural haematoma and retinal haemorrhages in infancy. Journal of the Royal Society of Medicine. 2000;93(11):591-592 [Pubmed citation only]
  16. Traboulsi EI, Silva JC, Geraghty MT, Maumenee IH, Valle D, Green WR. Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria. American Journal of Ophthalmology. 1992;113(3):269-280 [Pubmed]
  17. Wetzel RC, Slater AJ, Dover GJ. Fatal intramuscular bleeding misdiagnosed as suspected nonaccidental injury. Pediatrics. 1995;95(5):771-773 [Pubmed citation only]

 

 

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