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:

Glutaric aciduria type 1: this disease causes recurrent episodes of coma, sometimes accompanied by subdural hematomas or retinal hemorrhages, seeming like obvious instances of child abuse. Parents described what happened in a case of glutaric aciduria type 1 in which the child presented with coma and a subdural hematoma:The Ss stood by as the medical team tried to revive their son. L overheard a technician exclaim, “What did they do to that baby!?” By the time M was taken to LL University Medical Center for surgery to relieve bleeding in his brain, Child Protective Service officials had been called. Early reports show doctors’ suspicions that L had shaken M hard enough to cause hemorrhaging behind his eyes. CPS documents show V was suspected of failing to stop the abuse. The Ss were kept away from M, questioned, investigated and ordered to appear in court for a custody decision regarding their two older children. The children, the Ss’ neighbors and V’s parents were questioned, although L’s two older children and M’s pediatrician were not. The family’s house was searched and photographed, and D and J were put in the custody of V’s parents. The Ss were cleared four days after the episode when M was diagnosed with glutaric acidemia. Other cases involving glutaric aciduria type 1 are described here and here, the latter noting that the disease “does not predispose patients to fractures; if a subdural haematoma is accompanied by a fracture, exclusion of GA1 is probably unnecessary”. A similar abuse-like presentation in glutaric aciduria type 2 has been described in an abstract by Krueger et al. 2006 (Neuropediatrics 37:Suppl. 1 S107).
Methylmalonic acidemia: a child appeared to have died of ethylene glycol poisoning, found by two independent labs. The mother was sentenced to life in prison, but while in prison, gave birth to a second son, who was found to have methylmalonic acidemia. Reexamination of serum from the first child also showed methylmalonic acidemia; the labs had misidentified propionic acid as ethylene glycol. The mother was eventually released from prison. Note, however, that the opposite error can also occur: intentional poisoning with ethylene glycol can be misinterpreted as an inborn error of metabolism.

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:

Medications: many cause a bleeding tendency.
Coagulation disorders: typically cause a bleeding tendency. An example is Hermansky-Pudlak Syndrome, where according to Donna Appell of the Hermansky-Pudlak syndrome network child abuse is often suspected. Petechiae and purpura should be looked for as evidence of other coagulation problems.
Mechanical causes for bleeding: the presence of external hydrocephalus or subarachnoid spaces is associated with subdural bleeding and retinal hemorrhages, apparently with the external hydrocephalus preceding the bleeding. External hydrocephalus occurs in glutaric aciduria type 1, which is particularly likely to be confused with child abuse because of recurrent episodes of lethargy or coma.
Menkes disease: aneurysms develop and p redispose to subdural hematomas, thereby mimicking shaken baby syndrome.
Marfan syndrome: according to some reports there is a bruising tendency in Marfan disease due to blood vessel fragility, though others attribute the bruises to frequent falls. One mother describes being accused of MSBP due to her two year old’s multiple complaints and bruises.
Connective tissue disorders: some disorders such as Ehlers-Danlos syndrome can cause weakness of blood vessels, leading to bleeding. An example in which an erroneous diagnosis of shaken baby syndrome was made initially is described by Dr. Heskel Haddad.
Structural abnormalities: congenitally abnormal anal location or size can lead to constipation and resultant rectal bleeding, leading to concerns about abuse.
Skin abnormalities: children with Cutis Marmorata Telangiectatica have irregular patterns on the skin that are sometimes attributed to child abuse.

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:

Dubowitz syndrome: Sharon Terzian of the Dubowitz Syndrome Support group relates that parents of children with Dubowitz Syndrome are sometimes investigated because of the child’s failure to thrive. Although the growth retardation is often intrauterine, sometimes this just shifts the time during which abuse is suspected to include gestation.
GE reflux: Beth Anderson of the Pediatric Adolescent Gastroesophageal Reflux Association reports many mothers being suspected when their child fails to gain weight due Gastroesophageal Reflux. Some parents are reported only on the basis of poor weight gain, others are reported because of unusual feeding methods they used to try to get their children to gain weight.

Immunodeficiency

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

Severe Chronic Neutropenia: A mother of a patient describes what happened after multiple medical visits with several children for severe infections:

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:

Alagille syndrome
Osteogenesis imperfecta
X-linked hypophosphatemia: Joan Reed, President of the XLH Network, relates that the undermineralization and bowing of bones in children with XLH often leads to suspicion of nutritional neglect and delays in diagnosis. Even after diagnosis of some related disorders such as Autosomal Dominant Hypophosphatemic Rickets, the use of the word rickets causes many non-medical people to assume the problem is nutritional.
Bone disease of prematurity
Ehlers-Danlos syndrome and other connective tissue disorders
Rickets due to vitamin D deficiency
Scurvy (vitamin C deficiency): particularly suspicious because bruising is also frequent
Copper deficiency and Menkes disease: particularly suspicious because of frequent subdural hematomas in Menkes disease and seizures.
Inherited systemic hyalinosis: Shieh et al. relate that “Periosteal reaction or fractures on skeletal radiographs in systemic hyalinosis have been mistaken for nonaccidental trauma. The hyperpigmented skin lesions may mistakenly be considered post-traumatic”.
Congenital insensitivity to pain, in which it is described that “in several cases, parents almost had their children removed because of suspected child abuse”.

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.

Sudden infant death

In Australia, a woman’s 4 children all died before 2 years of age. As related in the New York Times, the cause of the first deaths was considered to be Sudden Infant Death Syndrome, but after the death of the 4th at 18 months old she was sentenced to 40 years in prison. Genomic sequencing of the mother later found a variant in the CALM2 gene, also found in 2 of the 4 children, and abnormal epilepsy-related genes were found in the other 2.

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:

Trifunctional protein deficiency: this fatty-acid oxidation disorder includes a variety of findings that can arouse concern, including muscle breakdown, “failure to thrive”, hypoglycemia and lethargy. A mother of a patient described her experiences: “On June 4 1999, I got a knock on my door. Unassuming me answers the door to find a representative from the Department of Children and Families standing there. I was being investigated for Abuse. I strongly believe, for various reasons, that a family member, whom had never gone with me to S’s Dr’s visits, had a nurse whom had NEVER seen S before, call in a report because I was taking S to so many doctors. The authorities believed that I had to have Munchausen Syndrome by Proxy.’The next day I had to appear in court with my son. When I told the Judge that my son had skull surgery and was diagnosed with other ailments, he took my son from me and ordered him to be put in Foster Care.”
Glutaric aciduria type 2: this rare disorder has episodic attacks of hypoglycemia, vomiting and weakness. A mother of a patient described her experiences:According to medical records, prior to C’s evaluation, they had already interviewed his former [nurse practitioner] and current pediatrician, both of which helped entertain the diagnosis of Munchausen Syndrome by Proxy! Needless to say, we were very upset and sick to our stomachs that we were being accused of child abuse, for trying to help our sick child! It is the most sickening feeling I have ever had in my life and will never get over the hurt and betray. I had lost faith in the medical system. I knew there were good physicians out there. I just found it hard to believe that we would ever find one.
Seizure-like episodes: descriptions of movement disorders can sound a lot like seizures, but the EEG is completely normal, sometimes leading to MSBP allegations. Some allegations have been cleared up after clinicians saw the movement disorders live or on video or after movement disorders were described or shown to the family. Many diseases have movement disorders, which also occur as a side effect of many medications. If the medication is also being used to treat a disorder with failure to thrive (e.g. metoclopramide for GE reflux) the two odd problems can lead to a concern about child abuse.

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.