SimulConsult, Inc.

The Differential Diagnosis of Child Abuse

Michael Segal MD PhD

Many findings that raise concerns of child abuse or "Munchausen Syndrome by Proxy" (MSBP) also occur in physical diseases.  This article highlights such findings and diseases in order to help child abuse teams broaden the differential diagnosis of child abuse to include physical disease that can mimic child abuse.  By making such diagnoses, the child abuse team can be the heroes who make the correct diagnosis and avoid the pitfall of overlooking potential innocence of the parents.

The material here is organized by findings.  Personal accounts are quoted to give a flavor of the experiences of families.  The lists are not exhaustive, and they are skewed towards neurological and metabolic diseases, reflecting the experience of the author.  All names in quoted materials are replaced by initials. 

The lists are meant to evolve, collecting the wisdom of the community.  If you have suggestions of more diseases and findings to add or accounts of erroneous suspicion of parents, please contact us

These listings are not meant to lower vigilance against child abuse, which clearly occurs often.  Although some have questioned the existence of the MSBP diagnosis, I am not among them, having seen personally a case of a woman fabricating seizure reports about her child. 

Lethargy / coma

Lethargy and coma occur in many metabolic diseases, often on an episodic basis, and can appear to be from child abuse.  Examples:

Bleeding and bruising

Bleeding and bruising are common in child abuse, but have many medical causes, from coagulation disorders to disorders weakening blood vessels.  Examples:

Failure to thrive

Neglect or abuse is often considered if a child fails to gain weight.  This can also lead to bone fragility, leading to fractures that provide a second finding that resemble a finding in child abuse.  This is more likely to occur in rarer syndromes less likely to be recognized by medical professionals.  Examples:

Immunodeficiency

A child with multiple illnesses may be assumed to be neglected or purposely infected.  Example:

When her doctor wasn’t available the next evening, in desperation we went to the Emergency Room. The doctors there were alarmed and we were sent to the USC Medical Center Contagious Disease Ward. Once there, we were accused of abuse and threatened with police action.

High muscle enzymes

High muscle enzymes sometimes are presumed to be from trauma, even though many illnesses have high creatine kinase levels due to non-traumatic causes for muscle breakdown.  

Bones breaking, bending or joints dislocating

Many diseases result in bones being susceptible to breaking, leading to allegations of child abuse.  One should check whether superficial indications of trauma are commensurate with the fractures.  Serial measurement of serum alkaline phosphatase activity is also helpful.  Other bone disease result in bones being undermineralized and likely to bow or bend, leading to accusations of neglect.  Examples particularly likely to lead to errors are:

Certain features on bone imaging such as certain metaphyseal lesions have been proposed to be indicators of child abuse, but there is doubt as to the specificity of such correlations.

Some medications can make bones more fragile, most commonly steroids. 

Cedars Sinai Hospital has taken a particular interest in such orthopedic cases. 

Repeated injuries

Many diseases and medications produce insensitivity to pain, with cases of children breaking bones but not reporting the pain at the time of injury and suspicion falling on caretakers.  Parents of children with hereditary sensory and autonomic neuropathies have been investigated for child abuse.

Other diseases such as Ehlers-Danlos syndrome cause connective tissue weakness, leading to bowel perforation, which can lead to accusations of abuse. 

Mutism

Diseases such as selective mutism and medications can produce mutism that is interpreted as evidence of child abuse. 

Recurring odd complaints

Parents are sometimes accused of MSBP because of repeated medical visits for a variety of odd symptoms.  Such constellations of findings can occur in many inherited diseases and for many rare syndromes doctors will often not recognize the pattern.  A New Yorker article chronicled one such story, though it was clear that something physical was wrong because of various congenital defects.  More difficult are cases in which it is not clear whether any of the findings are actually due to physical disease.  Examples:

CONCLUSION

Child abuse is a real problem, but many physical illnesses can appear similar to child abuse.  When a common illness mimics child abuse, the diagnosis typically is recognized, but often rare diseases fail to be recognized.  Although such diseases are individually rare, there are so many rare diseases that collectively they are common enough to make it incumbent upon doctors to consider such diseases in the differential diagnosis of findings suggestive of child abuse. 

Screening tests are useful in testing for some of these disorders and it may be helpful to develop a battery of tests targeted at situations where abuse is suspected.  However, no set of screening tests will be exhaustive, and a detailed consideration of physical causes for findings is important.  Helpful tools for doing so include simple general tools such as OMIM or, when relevant, more sophisticated tools such as our SimulConsult Diagnostic Decision Support diagnostic decision support software.

Thanks to Charles Brill MD, Peter Heydemann MD, Imelda Hughes MB, Loren Pankratz PhD and Steven Rothman MD for sharing examples of physical diseases misdiagnosed as child abuse.  If you have comments or suggestions please contact us

Other useful links: