A review on clotting disorders and retinal hemorrhages: Can they mimic abuse?


Journal

Child abuse & neglect
ISSN: 1873-7757
Titre abrégé: Child Abuse Negl
Pays: England
ID NLM: 7801702

Informations de publication

Date de publication:
08 2021
Historique:
received: 19 08 2020
revised: 12 03 2021
accepted: 07 04 2021
pubmed: 29 5 2021
medline: 11 1 2022
entrez: 28 5 2021
Statut: ppublish

Résumé

The characteristic findings of abusive head trauma (AHT) include retinal hemorrhages (RH). RH have many etiologies in childhood, which should be considered in the differential diagnosis of possible child abuse. The relationship between RH and thrombophilia in children is not well established. In this literature review, we sought to assess whether retinal findings in pediatric patients with thrombophilia could mimic those of AHT. A literature search was performed to identify all cases of thrombophilia in children less than 18 years old with ocular manifestations. Disorders of thrombophilia including protein C and S deficiency, factor V Leiden (FVL), prothrombin variant, MTHFR mutation, hyperhomocysteinemia, elevated factor VIII, and elevated lipoprotein (a) were considered. All cases of pediatric thrombophilia with retinal examination or intraocular bleeding were included. If provided, descriptions of the RH were reviewed. Our initial search yielded 514 results. Forty-three articles met our inclusion criteria. We identified 3 children with RH within the AHT usual age range (<5 years old), ages 5 weeks and 7 weeks old, in the setting of thrombophilia. One child had ocular findings that could potentially mimic abuse. No other indicators of abuse were present in this case. Based on previous reports, thrombophilia alone has not been shown to clearly mimic abusive head trauma. In reported cases of thrombophilia with RH, the clinical picture and ophthalmic findings are usually distinct from abuse.

Sections du résumé

BACKGROUND
The characteristic findings of abusive head trauma (AHT) include retinal hemorrhages (RH). RH have many etiologies in childhood, which should be considered in the differential diagnosis of possible child abuse. The relationship between RH and thrombophilia in children is not well established.
OBJECTIVE
In this literature review, we sought to assess whether retinal findings in pediatric patients with thrombophilia could mimic those of AHT.
METHODS
A literature search was performed to identify all cases of thrombophilia in children less than 18 years old with ocular manifestations. Disorders of thrombophilia including protein C and S deficiency, factor V Leiden (FVL), prothrombin variant, MTHFR mutation, hyperhomocysteinemia, elevated factor VIII, and elevated lipoprotein (a) were considered. All cases of pediatric thrombophilia with retinal examination or intraocular bleeding were included. If provided, descriptions of the RH were reviewed.
RESULTS
Our initial search yielded 514 results. Forty-three articles met our inclusion criteria. We identified 3 children with RH within the AHT usual age range (<5 years old), ages 5 weeks and 7 weeks old, in the setting of thrombophilia. One child had ocular findings that could potentially mimic abuse. No other indicators of abuse were present in this case.
CONCLUSIONS
Based on previous reports, thrombophilia alone has not been shown to clearly mimic abusive head trauma. In reported cases of thrombophilia with RH, the clinical picture and ophthalmic findings are usually distinct from abuse.

Identifiants

pubmed: 34049052
pii: S0145-2134(21)00143-5
doi: 10.1016/j.chiabu.2021.105070
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

105070

Informations de copyright

Copyright © 2021. Published by Elsevier Ltd.

Auteurs

Avrey Thau (A)

Thomas Jefferson University, Philadelphia, PA, USA; Department of Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, PA, USA.

Brooke Saffren (B)

Philadelphia College of Osteopathic Medicine, Philadelphia, PA, USA.

James D Anderst (JD)

Division of Child Adversity and Resilience, Children's Mercy Hospital, Kansas City, MO, USA.

Shannon L Carpenter (SL)

Department of Hematology, Oncology, and Bone Marrow Transplantation, Children's Mercy Hospital, Kansas City, MO, USA.

Alex V Levin (AV)

Thomas Jefferson University, Philadelphia, PA, USA; Department of Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, PA, USA. Electronic address: alex_levin@urmc.rochester.edu.

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