All medical professionals are mandated reporters to Child Protective Services (CPS) and there are a number of medical conditions that can mimic signs of child abuse. Individually, most of these conditions are relatively rare, but collectively, they’re less so. When these conditions are reported to CPS as alleged child abuse (or in some cases, Munchausen’s Syndrome by Proxy), the consequences can be devastating. What are these medical conditions and what can I do to avoid the worst CPS has to offer? Let’s find out.
Mimics of Abusive Head Trauma
Abusive Head Trauma (AHT) is the new name for what was previously known as Shaken Baby Syndrome. It’s more inclusive of the many ways head trauma can be inflicted on children. However, there are again numerous disorders that can mimic these exact signs of child abuse.
- Glutaric Aciduria Type I is a deficiency of Glutaryl-coenzyme A dehydrogenase caused by mutations in the GCDH gene. It’s typically characterized in infants by an abnormally large skull, low muscle tone, irritability, global, developmental delay and convulsions. Hemorrhaging (bleeding in the brain) is of high risk and may be misinterpreted as abusive head trauma in undiagnosed or misdiagnosed patients. It occurs in less than 1/1 million live births, but is more common in some ethnic groups.
- Menkes Disease is a deficiency of a membrane bound copper transporter protein caused by mutations in the ATP7A gene, resulting in an accumulation of copper in the body. It’s typically characterized by abnormally steely hair, progressive neurological deficits, liver abnormalities, connective tissue problems and in some cases, can mimic abusive head trauma. Patients typically present with liver and developmental symptoms at birth. Since Menkes Disease is a recessive disorder and the ATP7A gene is located on the X chromosome, it is more common in males.
- Cobalamin C (CLBC) Deficiency is a deficiency of Vitamin B12 caused by mutations in the MMACHC gene. It’s typically characterized starting in infancy by failure to thrive, intellectual disability, lethargy, seizures and anemia (low red blood cells). More severe complications in the brain found on imaging can mimic signs of abusive head trauma.
- Neurofibromatosis is a group of genetic disorders that cause tumors on the nervous system (the brain and associated cells). The most common type in children, Type I, typically presents with flat light brown spots, neurofibromas (soft bumps under skin), intellectual disability, developmental delay, large stature and skeletal abnormalities. Hemorrhaging (bleeding in the brain) caused by Neurofibromatosis can mimic abusive head trauma.
- Marfan Syndrome is a dominant genetic disorder affecting the connective tissue caused by mutations in either the FBN1 or TGFBR2 genes, resulting in musculoskeletal, heart and brain abnormalities. With a prevalance of 1/5000 live births, Marfan Syndrome is more common than most of the medical conditions listed here. Patients with Marfan Syndrome are at elevated risk of brain hemorrhage mimicking abusive head trauma.
- Loeys-Dietz Syndrome is a genetic disorder of the connective tissue caused by mutations in any one of multiple genes. Symptoms and age of symptom start can vary widely, but patients with Loeys-Dietz Syndrome typically experience skeletal malformation (especially in the skull), abnormal scarring and are highly susceptible to bruising. While patients with Loeys-Dietz Syndrome can experiencing hemorrhaging that mimics abusive head trauma, they can also experience bruising CPS may identify as physical abuse from excessive corporal punishment.
Mimics of Abusive Bruising
Some clotting disorders (primary or secondary) will naturally increase the chances of bruising. When investigating child abuse, one of the physical signs CPS looks for is bruising. This can indicate physical abuse and bruising not easily explained in undiagnosed patients can and has led to reports of child abuse. Disorders in this category include Hemophilia, Von Willebrand Disease and Factor XIII Deficiency.
- Hemophilia is a genetic disorder. Hemophilia Type A is a deficiency of the Factor VIII protein, while Type B is a deficiency of the Factor IX protein. The genes for both proteins are located on the X chromosome and the disorder is more common in males. Since clotting takes longer for patients with Hemophilia, bruising may be frequent and take longer to heal, which can be interpreted as evidence of child abuse. Hemophilia may also cause in hemorrhaging that can result in mimics of abusive head trauma, but it’s less common.
- Von Willebrand Disease is the most common inherited bleeding disorder. It is caused by deficiency of the Von Willebrand Factor protein, which is encoded by the VWF gene. While Types I and II are less likely to cause severe bleeding and bruising, Von Willebrand Disease Type III will cause significant difficulties in clotting and a high risk of frequent bruising, which can be misinterpreted as child abuse.
- Factor XIII Deficiency is another bleeding disorder- caused by deficiency of the Factor XIII protein and is caused by mutations in the F13A1 or F13B genes. There are also some reports of acquired forms of Factor XIII deficiency. Factor XIII Deficiency may also cause hemorrhaging that can mimic abusive head trauma, but it’s less common. Like the other bleeding disorders listed above, bruising is a problem and can misinterpreted as child abuse.
Mimics of Abusive Bone Fractures
Frequent bone fractures can be associated with prolonged and repeated physical abuse. Therefore, imaging that shows many healed bone fractures without another explanation are likely to reported to CPS. Some disorders present in childhood present with very fragile bone structure, but doctors and CPS may miss the diagnosis.
- Pycnodysostosis is a genetic disorders caused by mutations is the Cathepsin K gene. The age symptoms start is variable, but it’s typically diagnosed in childhood with symptoms including bone fragility, short stature, an abnormally large skull and more. The fragile bones may break more frequently, which can be interpreted as due to child physical abuse- especially if multiple healed bone fractures are found on imaging that the medical professionals find suspicious. Dental abnormalities are also common in Pycnodysostosis, which means dental professionals, who are also mandated reporters, may mistakenly report this condition as medical neglect. In addition, the skull abnormalities do increase the likelihood of hemorrhage resembling abusive head trauma, but it is not as common as in the disorders listed under abusive head trauma.
- Osteogenesis Imperfecta is a group of genetic disorders that cause fragile bones and skeletal abnormalities. Other symptoms that may appear include, bone malformations, short stature and scoliosis. The frequent fractures that may result in Osteogenesis Imperfecta patients may be considered by CPS as signs of child abuse.
- Ehlers-Danlos Syndrome is a connective tissue disorder with a variety of genetic causes. While symptoms can vary widely, there is significant overlap with Osteogenesis Imperfecta. In Ehlers-Danlos Syndrome Type IV specifically, a dominant disorder caused by mutations in the COL3A1 gene, brain hemorrhage mimicking abusive head trauma may also present.
- Rickets is a deficiency of Vitamin D and has a variety of causes. Vitamin D is important to bone health and patients are more susceptible to frequent bone fractures, which CPS may view as abuse. However, Rickets is more controversial as a medical mimic of child abuse. While there are numerous case reports of Rickets fractures mimicking signs of child abuse, there are plenty of people with Vitamin D deficiency that do no show symptoms mimicking child abuse. It’s unclear if there are additional factors other than abuse that may be playing a role in these patients.
Depending on the standard of evidence CPS uses in your state, you or your child saying corporal punishment is used in your home can be enough to remove a child- if not at least substantiate a case. That’s why if your child has a medical condition that could mimic child abuse, it’s important you always have a digital or hard copy of the diagnostic report, list of medications and a letter from the specialist treating your child on their professional letterhead that identifies him or her, the medical condition your child is diagnosed with and any treatments prescribed. If your child bleeds easily or has a head injury, make sure medical professionals do their due diligence in ensuring diagnostic accuracy. When a case alleging physical abuse is reported by medical professionals or is reviewed by CPS’ medical consultant, these professionals’ word is taken almost as gospel in the courts- making allegations like these very difficult to fight unless you have the right documentation in order to eliminate almost all possibility the findings may be due to child abuse. If your case in court, there is usually a small budget for expert witness testimony. This is the time to make effective arguments using those experts and all other tools at your disposal to prove an alternative explanation to child abuse or neglect and potentially upend the prevailing narrative that you abused or neglected your child(ren).
While the disorders described here are among the most well-documented mimics of child abuse, this is not an exhaustive list. There are others. Knowing about these conditions and that they can mimic child abuse can provide direction when the worst case scenario happens, CPS is called and you have no explanation for your child’s medical conditions. Always keep in mind that the longer CPS is involved, the more difficult it becomes to dig yourself out. Dont’ let it get that far. The quicker you act effectively, the better your chances at a better ending.
Sources
The Neuroimaging Mimics of Abusive Head Trauma
DISCLAIMER: This article is meant for educational purposes only. It does not constitute medical advice. Do not attempt to diagnose or treat these conditions on your own. Please consult a medical professional you trust.