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 predispose to subdural hematomas, 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.
- Structural abnormalities: congenitally abnormal anal location or size can lead to constipation and resultant rectal bleeding, leading to concerns about 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.
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. Dr. Colin Paterson and others advise checking 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.
- Temporary brittle bone disease
- 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”.
Some medications can make bones more fragile, most commonly steroids.
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.
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:
- 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.
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 Neurological Syndromes 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.
Dr. Segal is a pediatric neurologist who did research on sodium channels in epilepsy while he was on the faculty of Harvard Medical School. Since 2002 he has been at SimulConsult, a company he founded that produces software to assist in making medical diagnoses. In 2007, together with his colleagues from Harvard, he described a form of attention deficit disorder that resembles hypokalemic periodic paralysis.
Dr. Segal got his PhD and MD degrees in 1982 and 1983 from Columbia University. After a pediatric internship at St. Louis Children’s Hospital he returned to New York to do a pediatric neurology residency at Columbia Presbyterian Hospital from 1984-87. Before joining the faculty at Harvard Medical School he did a fellowship in Harvard’s Neurobiology Department, winning the S. Weir Mitchell young investigator award of the American Academy of Neurology in 1990 for the epilepsy research he did there.
Last year Cynthia Janak and Leslie Botha made an unusual and very surprising announcement on Leslie Botha’s regular radio show Holy Hormones Honey – The Greatest Story Never Told! www.krfcfm.org It was announced that because the girls who had been adversely affected by the Gardasil vaccine could describe their symptoms, that their words could give the silent world of autism a voice. The ‘Gardasil girls’ as they are now known as, described throbbing head pain , tingling sensations, pains in their limbs, excruciating pain in their abdomen and other symptoms that Janak and Botha both feel, may describe why many autistic children, display strange and often bizarre behaviour, such as head banging, rock and screeching.
Just before this extraordinary show was to be aired, Cynthia wrote on her blog Only the Truth about the fourth coming show and what she had discovered:-
“I have spent hours on the phone with many of Gardasil moms. On one occasion a mom called and asked me to speak to her daughter because she was having a very bad day. This young woman is in pain every day but on this day was experiencing pain that was so intense that she had gotten to the point where she could not stand it anymore. She had told her mom that she wished God would take her already. Of course I told this distraught mother that I would be honored to speak with her daughter.
During the conversation I shared with this young woman how she has been an inspiration to her family, church and the other people on the Gardasil board. I spoke to her about what she will be able to accomplish in the future when she gets better. I also promised her that some day we will visit the White House and maybe even talk to the President. That made her chuckle and she said, “I would like that,” in a quiet voice because her pain magnified all sound.
She then asked me “why did this have to happen?” It was then that I knew the answer and I told her that “the Gardasil Girls have given the silent faces of Autism a Voice for the first time in history. These children have not mastered speech so when they become autistic they cannot tell their moms they have a headache or that their stomach hurts or they cannot feel their legs or tingling in their legs.
It was at this point that all my research into Gardasil took on a new meaning, a new purpose and a new goal. My goal was to prove that autism does not exist. I wanted to prove by using the voices of the Gardasil girls that Autism is only brain damage because of excessive body burden of aluminum in vaccines.
I spent 10 to 14 hours a day over a period of many weeks researching everything I could to see if the information on vaccinations, aluminum and other heavy metals trackbacked to support this theory. I read personal stories of parents of autistic children and compared them with the stories of the Gardasil girls. I read hundreds of VAERS (Vaccine Adverse Event Reporting System) reports. I read articles about brain damage, reports about aluminum toxicity and all kinds of studies on these topics. I even went so far as to calculate potential toxicity from aluminum prevalent in the environment in combination with the toxic aluminum load found in single and/or multiple vaccines administered at the same time.
After I did all of this I sat back and looked at everything that I had researched with the documents, spreadsheets and graphs that I created during the process. The connection was there. Looking at the numbers and the side effects side by side, one could notice the direct relationship between the two – the higher the dose of aluminum – the more the severe the side effect.
I presented my findings to my colleague, women’s health advocate and broadcast journalist Leslie Botha. Intrigued by the data, Botha suggested that I expose my findings on her radio show on KRFC FM , a community radio station in Fort Collins, CO, audio streamed at www.krfcfm.org , 6:00PM Mountain Time. I proposed that the February 16 show be titled “Gardasil Girls Give the Silent Faces of Autism a Voice.” Prior to the show, I alerted the Gardasil and autism communities through various organizations, Internet boards and chat rooms to make them aware of the upcoming radio interview and topic.”
The show was spectacular and a resounding success, sending shock waves through the autistic community, could these ladies have hit on something?
Autism, is sometimes characterised by bizarre behaviour. A sub set of children with autism, often those said to become autistic after an adverse reaction to a vaccine, are prone to sudden screaming fits, arms waving wildly, rocking, head banging and hands covering the ears. Up until now there has been no apparent reason for this strange behaviour, however, had Cynthia Januk and Leslie Botha hit on the reason why these autistic children were acting this way? On the show Cynthia said that these children were displaying symptoms that they were unable to explain, she attributed this to brain damage she said is caused through toxin poisoning. She said that the screaming could be reaction to intense pain, the head banging and rocking could be the throbbing pain in these children’s heads. Janak believes that it is the aluminum in the Gardasil vaccine and other vaccines that many of the autistic children receive shortly before they regressed into their autistic state were to blame for these symptoms and it was in fact brain damage caused by the toxins in the vaccines. Autistic children are unable to describe what they were feeling, so they describe their feelings in the only way they know how.
Since the show, Janak has written much on her theory but it was just a theory, this was until ABC News reported this unusual story.
Mute autistic girl finds a voice – http://www.tvkim.com/watch/357/kims-picks-mute-autistic-girl-finds-a-voice
ABC News showed a film of how a child displaying all of these behaviours of autism, had suddenly, at aged eleven, been able to break out of her autistic state and with the help of a computer, describe exactly what was making her act in this way. Here suddenly was the breakthrough that scientists have been waiting for. Suddenly, a previously wild and mute autistic child, was able to describe in perfect English exactly what she was feeling. What she describes is shocking and heart wrenching:-
“You don’t know what it feels like to be me, when you can’t sit still because your legs feel like they are on fire, or it feels like a hundred ants are crawling up your arms.
What do I want? I want to be like every other kid but I can’t because I am Carly.”
Then she described why she banged her head, she wrote-
“Because if I don’t it feels like my body will explode, it is like when you shake a can of coke. If I could stop it I would but it is not like turning off a switch.”
Suddenly, here was an autistic child, explaining exactly what Cythia Janak and Leslie Botha had suspected all along.
Leslie Botha said:-
“Although tragic, this is a fantastic and exciting breakthrough. Here is an autistic child, who has suddenly become able, finally, to express the feelings of trauma and pain, that match those of the Gardasil girls, proving that what we suspected was right all along.
Vaccine damage is nothing short than brain damage. The good news is that the brain has the ability to heal itself from the damage it incurs genetically and from environmental toxins if it gets the therapy and nutrients that it needs.
The girls who are damaged from the Gardasil vaccine are experiencing many of the same neurological problems that vaccine-induced autistic children experience and finally we have proof. The Gardasil girls are finally giving voice to these problems that have destroyed the lives of innocent infants for too many years.
Brain damage is brain damage. It can come from many different sources. The emerging field of neuroscience proves this with brain scans and imaging.
Vaccine companies can no longer hide behind their shroud of deceit and deception. The truth will be told and science will back it up.”
Cynthia Janak now feels that this new revelation may offer hope to many families with autistic children and initiate the treatment these children so badly need.
- For Leslie Botha go to Holy Hormones Honey http://holyhormones.com/ or listen to Leslie’s radio show every second Monday Holy Hormones Honey – The Greatest Story Never Told! on KRFC FM 88.9 in Fort Collins, Colorado
Audio Streamed at www.krfcfm.or
Published: Fri, 27 Aug 2010
Description: A Pinellas County jury has reached a verdict in the shaken baby trial of Tenesia Brown.
Automatically Generated Transcript (may not be 100% accurate)
” There is a verdict tonight in the shaken baby trial of Tunisia brown prosecutors charged brown with the murder of the 2008. Death of three year old Luzon — after a four day trial jurors didn’t by the prosecution’s case and found brown. Not guilty news Channel 8 Peter Bernard watched as the verdict came down in a pinellas Scott county courtroom.”
” Standing arm in arm whether attorney former Foster parent Tunisia brown stood here the court clerk announced the verdict. We the — Find his palaces to the defendant’s — back his — counting. Brown faced life in prison for the death of three year old Luzon — prosecutors say brown had shaken — after picking him up from daycare for years ago. The toddler died two years later. — defense brought in a 101000 dollar a day expert witness to debunk the shaken baby syndrome allegation. Brown herself did not take the stand that tactic paid off. After the verdict Brown’s husband told me he and his wife still think about –“
” We don’t want to forget about those. Now we did we. And we took care of him and mom. Who’s gonna continue to pray for him. Defense attorney Ron to appear says he always believed his client was innocent. We knew that if we just had a chance. To defend the case and — our story. That we have a chance for the brown family the case has been draining emotionally and financially. Believing she says she didn’t do it. That’s all — need to know. Ruth Graham had to sell everything they had in Norwich Vermont this offense a crying Tunisia brown didn’t wanna talk to me but her husband tells me this is the toughest thing he’s had to endure. And owned by going to do to protect it was a — Every day trying to shoot — wasn’t going anywhere and try to do the right help she deserved. The browns now have the task of resuming their normal lives any thought of being a Foster parent again this for another day. Peter Bernard news Channel –“
See Source For Video Of Court Ruling
August 27th, 2010, 2:47 pm by jensslin
What happens when a child abuse case is re-tried 15 years later and meanwhile the science has changed to the point where skeptics emerge?
That’s what’s about to happen when Cesar Deanda is tried later this year on a 1995 set of charges of child abuse resulting in death.
In May 1996, a El Paso County jury found Deanda guilty in the death of his then-girlfriend’s 17-month old son Donivan Bader. At the time, the victim’s family launched a public awareness campaign against what become known as shaken baby syndrome.
In September, the Colorado Court of Appeals ordered a new trial, ruling that Deanda’s attorney had a conflict of interest.
During a motions hearing earlier this week, Deanda’s public defenders indicated they intend to raise the issue of whether shaken baby syndrome was mistakenly applied in his case.
In recent years, there has been debate among doctors over the term. Here’s a fairly well-balanced story in the December 2008 edition of Discover magazine that explores the issue.
Also here is an article in the May 2009 edition of Pediatrics, the journal of the American Academy of Pediatrics, in which a committee of doctors recommended against using the term “Shaken Baby Syndrome” and instead calling it “abusive head trauma.”
How this plays out in Deanda’s trial remains to be seen. Fourth Judicial District Judge Deborah Grohs gave his defense attorneys a Sept. 17 deadline to file their motions and gave prosecutors until Oct. 1 to file their reply.