Unexplained Bruising: Weighing the Pros and Cons of Possible Causes

By JAMI REAVES

Dermatologist in private practice in Arizona

GREGORY WALLACE—Series Editor

Hospitalist at Cincinnati Children’s Hospital and Medical Center in Cincinnati and a staff physician at the Northern Kentucky Advocacy Center in Bellevue, Ky.

June 8, 2010

DISCUSSION

Because the history and presentation were concerning for physical abuse, the child abuse team was consulted in the ED.

Studies to include in a workup for suspected child abuse. A skeletal survey and head CT were obtained; neither showed evidence of abuse. Pediatric ophthalmology was consulted: no retinal hemorrhages were identified. Note that a skeletal survey, head CT scan, and pediatric ophthalmology consultation are all justified in any child younger than 24 months who has unexplained injuries.¹

Laboratory studies included in a workup for unexplained bruising. Laboratory studies in the ED revealed a white blood cell count of 17,100/μL; hemoglobin level, 8.1 g/dL; hematocrit, 26.3%; reticulocyte count, 1.9% (normal, 0.5% to 1.9%); and platelet count, 541,000/μL. Prothrombin time (PT) was greater than 120 seconds (normal, 10.1 to 13.6 seconds); fibrinogen level was 565 mg/dL (normal, 200 to 400 mg/dL); thrombin time was 12.3 seconds (normal, 14.2 to 21.3 seconds); and partial thromboplastin time (PTT) was greater than 120 seconds (normal, 26.4 to 35.9 seconds). Results of urinalysis were normal. γ-Glutamyltransferase level was 86 U/L (normal, 6 to 19 U/L); alkaline phosphatase level was 511 U/L (normal, 145 to 320 U/L); and total protein level was 5.3 g/dL (normal, 5.4 to 7.0 g/dL). Total iron-binding capacity was 188 μg/dL (normal, 215 to 450 μg/dL). Results of other liver and renal function tests were normal for the child’s age. A chest radiograph showed opacity in the upper lobe of the right lung compatible with atelectasis, although pneumonia could not be definitively excluded.

The child was admitted to the hospital for further diagnostic testing and treatment. Hematology was consulted for workup of the elevated PT, PTT, and fibrinogen level. Treatment with tobramycin and cefipime was started for presumed pneumonia until further workup could be completed. On the second day of his hospital stay, after initial screening tests and storage of additional blood, the child was treated with vitamin K.

Differential diagnosis of abnormal clotting in an infant. Any malabsorptive disorder that affects vitamin K absorption could have been the cause of this patient’s symptoms and laboratory abnormalities. The complete differential diagnosis included celiac disease, α₁-antitrypsin deficiency, hepatitis, abetalipoproteinemia, warfarin exposure, and biliary atresia.² Factors II, VII, IX, and X are vitamin K–dependent, but the liver produces virtually all clotting factors. Here, however, other liver diseases did not need to be considered because of the high fibrinogen level and normal liver function test results. Vitamin K absorption can also be affected by altered bacterial colonization resulting from antibiotic use. Young children are particularly sensitive to vitamin K malabsorption disorders because very little vitamin K is transferred across the placenta and the reserves are thus very small. The most plentiful source of vitamin K in children’s diets is commercial formula; breast milk is a very poor source. The absorption of vitamin K is dependent on intact biliary and pancreatic function. A small amount will be synthesized by normal gut flora.

On the basis of the history and laboratory test results, hemorrhagic disease of the neonate and CF figured prominently in this patient’s differential diagnosis.

Outcome of this case. Results of sweat chloride testing were positive, with an initial value of 84 mEq/L (normal, less than 60 mEq/L) and a second value of 92 mEq/L on hospital day 2. Serum levels of fat-soluble vitamins were obtained: the vitamin A level was less than 140 μg/dL (normal, 140 to 520 μg/dL), and the vitamin D level was 5 pg/mL (normal, 9 to 46 pg/mL). Results of lung/bronchoscopy cultures were returned on day 3 and were positive for β-lactamase–producing Haemophilus influenzae. Coagulation factors had all normalized within 48 hours, after 2 doses of vitamin K.

Answer:

The bruises were the result of cystic fibrosis presenting as a coagulation disorder.

Source:

http://www.consultantlive.com/pediatrics/content/article/10162/1583642

The Key Points

This infant’s case illuminates 2 key points:

•	In an effort not to make unfounded allegations and yet protect innocent children, physicians dealing with abuse and neglect should do broad screening tests in an attempt to exclude rare underlying organic diseases. Thus, a coagulation evaluation is warranted in any child with significant, unexplained bruising.
•	Although it happens infrequently, cystic fibrosis (CF) can present as a bleeding disorder. Thus, while a rare occurrence, CF can mimic child abuse.3-5

Misdiagnosis Of Abuse

A.J. Walter

Physician, Surrey, BC

W. James King and colleagues¹ report that bruising was noted on examination for 46% of the children in their study of shaken baby syndrome in Canada. Such a high proportion warrants attention, but we must ensure that the diagnosis is correct.

A few years ago, a mother brought to my office her 31/2-month-old child, who had ecchymosis of the left cheek and left pinna. The mother reported 3 separate episodes of bruising before the presenting episode. She suspected abuse by a babysitter, and the case was reported to the appropriate authorities. The child was investigated for bleeding disorders, but none were found. On the basis of the results of a pediatric examination arranged by social services, the child was removed from the mother’s care. Subsequent medical care was provided by the family physician of the child’s foster parent.

I next saw the child at 10 months of age during a day visit to the birth mother. The presenting problem at that time was described as recurrent impetigo of the left pinna. Infected eczema of the left pinna had been diagnosed on several occasions in the intervening period, and a dermatologist had confirmed the diagnosis of impetigo. This story sounded odd and led me to speculate that the child might have a herpes simplex infection. The dermatologist had taken a sample for culture, and a phone call to the local laboratory confirmed that the viral swab was growing herpes simplex I. In view of this information, I suspected that the episodes of ecchymosis of the left pinna seen in the first few months of life were actually the result of the original herpes infection.

After letters and phone calls to the Ministry of Children and Families, the child was finally returned to the birth mother in the second year of life. The lesson to be learned is that in our haste to ensure the safety, welfare and protection of our pediatric patients, we should remember that all that glitters is not gold.

A.J. Walter Physician Surrey, BC

Reference

1. King WJ, MacKay M, Sirnick A, with the Canadian Shaken Baby Study Group. Shaken baby syndrome in Canada: clinical characteristics and outcomes of hospital cases. CMAJ 2003;168 (2): 155-9. [PMC free article] [PubMed]

Source:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC202278/

The Mistaken Diagnosis Of Child Abuse: A Three-Year USAF Medical Center Analysis And Literature Review

Author:

Wardinsky TD, Vizcarrondo FE, Cruz BK.

Department of Pediatrics and Radiology, David Grant USAF Medical Center, Travis AFB, CA 94535-5300, USA.

Abstract

Medical personnel who evaluate children for child abuse and neglect (CAN) must be familiar with the many pediatric conditions that resemble CAN in order to avoid over reporting. During a 3-year period, a total of 504 suspected child abuse patients were evaluated by our CAN team. After preliminary evaluation, 264 (52%) of these cases were unsubstantiated. Eighteen of these 264 (7%) were initially considered as cases of CAN but were later proven to be conditions that were misdiagnosed as CAN. Thirteen of the 18 (72%) were readily diagnosed after consultation with a pediatrician or other health care consultant. Investigation of the remaining 5 patients (29%) was more difficult and more extensive, requiring a period of separation from the parents with consequent emotional hardship to the family. These conditions included (1) a patient with osteogenesis imperfecta type IV, (2) a patient with Ehlers-Danlos syndrome, (3) two patients with benign external hydrocephaly of infancy, and (4) a patient with Crohn’s disease, who was evaluated for sexual abuse because of chronic abdominal pain. A comprehensive literature review of pediatric conditions that may mimic CAN is presented by diagnostic categories to assist clinicians in differentiating medical conditions that may simulate CAN. Methods to support parents who have been incorrectly reported are discussed.

Source:

http://www.ncbi.nlm.nih.gov/pubmed/7746427

Genetic And Congenital Defect Conditions That Mimic Child Abuse

Author

Wardinsky TD

Department of Pediatrics, David Grant USAF Medical Center, Travis Air Force Base, Sacramento, CA, USA.

Abstract

Several medical conditions have been reported to mimic the physical manifestations of child abuse and neglect (CAN). These conditions include genetic, congenital, and other disorders that may result in poor weight gain, bone fracture, or skin lesions that appear to be bruises or burns. Society demands that medical personnel who care for children be aware of the many indicators that suggest CAN. This article is a review of 6 of 18 cases among 264 that were referred to a child abuse team over a 3-year period because of suspected abuse in which medical disorders were initially and erroneously diagnosed as CAN. This report also suggests ways to support aggrieved parents who have been mistakenly reported to be child abusers.

 

Source:

http://www.ncbi.nlm.nih.gov/pubmed/7561712

Cutaneous Mimickers Of Child Abuse: A Primer For Pediatricians

Mohammed AlJasser¹ and Sultan Al-Khenaizan¹

(1)	Division of Dermatology, Department of Medicine, King Saud Bin Abdulaziz University for Health Sciences and King Fahad National Guard Hospital, King Abdulaziz Medical City, P.O. Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia

Sultan Al-Khenaizan Email: khenaizans@ngha.med.sa

Received: 1 April 2008  Accepted: 26 June 2008  Published online: 26 July 2008

Abstract

The annual incidence of child abuse was estimated to be 2.8 million by the national incidence study conducted in the USA in 1993, which is a two-fold increase compared to 1986. Awareness of child abuse has been increasing since the 1960s. Although most victims of child abuse present with cutaneous lesions, many genuine skin diseases may appear as non-accidental injuries which, if not recognized, may lead to misdiagnosis of child abuse. Here, we review the most common cutaneous mimickers of child abuse in order to increase awareness of these disorders and reduce erroneous diagnosis of child abuse.

Introduction

Child abuse is defined by the Child Abuse Prevention and Treatment Act as a recent act or failure to act that results in death, serious physical, or emotional harm, sexual abuse or exploitation, or imminent risk of serious harm; involves a child; and is carried out by a parent or caregiver who is responsible for the child’s welfare [2]. Child sexual abuse is defined as the employment, use, persuasion, inducement, enticement, or coercion of any child to engage in, or assist any other person to engage in, any sexually explicit conduct or simulation of such conduct for the purpose of producing a visual depiction of such conduct; or the rape, molestation, prostitution, or other form of sexual exploitation of children, or incest with children [2]. Awareness of child abuse has been increasing since the 1960s [39]. The annual incidence of child abuse was estimated to be 2.8 million by the national incidence study conducted in the USA in 1993, which is twofold increase compared to 1986 [1]. In 2006, an estimated 3.6 million children were the subject of an investigation by child protective services agencies [4]. An abused child has approximately a 50% chance of being abused again and has an increased risk of dying if the abuser is not caught and stopped after the first presentation. Such figures indicate that the early diagnosis of child abuse is of great importance [48, 50]. Despite advancements in diagnosing child abuse, mistakes in diagnosis still occur. Because skin lesions are one of the most common presentations of child abuse, the findings of unexplained skin changes are alarming to healthcare workers, and if not correctly identified as cutaneous mimickers of child abuse, a false diagnosis of child abuse may—and do—result [22]. Such misdiagnoses can lead to serious consequences to the child, the family, and the falsely accused [19]. Irrefutable physical findings of sexual abuse occur in less than 10% of all cases [38]. Thus, the medical history, in addition to a thorough medical examination, takes on an importance of enormous proportions in both physical and sexual maltreatment cases [56]. Although skin diseases are the most common mimickers of child abuse, other non-dermatologic conditions (such as osteogenesis imperfecta) may also take on this role. There are many reviews that have tackled the subject of cutaneous manifestation of child abuse, but only few have discussed cutaneous mimickers of child abuse. This review will be limited to the most important cutaneous mimickers of child abuse, which can be classified into mimickers of physical abuse and mimickers of sexual abuse (Table 1). We hope that this review will increase the awareness of healthcare workers of different specialties of these presentations and decrease the incidence of the bitter experience of false accusations of child abuse.

Table 1 Classification of cutaneous mimickers of child abuse

Mimickers of physical abuse	Mimickers of sexual abuse
Linear eruptions	Lichen sclerosus et atrophicus
Inflammatory linear verrucous epidermal nevus	Anogenital warts
Allergic contact dermatitis	Perianal streptococcal cellulitis and streptococcal
Stretch marks	vulvovaginitis
Phytophotodermatitis	Genital herpes zoster
	Vulvitis circumscripta plasmacellularis
Non-linear eruptions	Perianal and vulvar Crohn’s disease
Mongolian spots
Hemangiomas
Henoch-Schönlein Purpura
Urticaria pigmentosa
Dermatitis artefacta
X-linked icthyosis
Bullous impetigo
Congenital blistering diseases
Acquired blistering diseases
Neuroblastoma

Mimickers of physical abuse

Linear eruptions

Because of their linearity, most linear eruptions can raise the suspicion of child abuse as many of them occur particularly in children. Pediatricians should be aware that not all linear skin lesions are externally induced and that genuine skin diseases may present in linear fashion.

Inflammatory linear verrucous epidermal nevus   Inflammatory linear verrucous epidermal nevus (ILVEN) is a relatively rare linear psoriasiform papules and plaques with the majority of cases appearing before the age of 5 years (Fig. 1). This condition is more common in females. It most commonly affects the extremities and occasionally the trunk and is usually unilateral. In addition to its linearity, ILVEN is red and itchy. Misdiagnosis of ILVEN as child abuse has been reported before [53].

Fig. 1 Inflammatory linear verrucous epidermal nevus. Well-defined linear erythematous scaly papules involving the dorsal aspect of the hand

---

Allergic contact dermatitis   Allergic contact dermatitis (ACD) is a delayed-type hypersensitivity reaction that is elicited when the skin comes in contact with an allergen to which an individual has previously been sensitized. Acute ACD usually presents with a well-demarcated pruritic eczematous eruption with or without blistering. Lesions are typically limited to the site of contact with the allergen. In children, acute ACD to henna tattoos, commonly applied in festivals and parties, can induce an angry looking linear dermatitis (Fig. 2). The medical history and pattern are usually confirmative. There have been a few reports of ACD misdiagnosed as child abuse [31, 59]. Paraphenylenediamine (PPD) is the culprit allergen, and hair dyes are contraindicated because they contain PPD or cross-reactants.

Fig. 2 Allergic contact dermatitis. Well-defined erythematous angry-looking plaques with vesicles due to henna tattoo

---

Stretch marks   Stretch marks are commonly seen in adolescents undergoing rapid linear growth and are seen in many physiological states, including normal puberty and pregnancy; however, they are rarely indicative of endocrine abnormalities [32]. Because of their linearity and appearance, they can be mistaken for physical abuse, particularly whipping marks (Fig. 3) [14, 33]. The atrophic appearance, horizontal orientation, and the classic location on the lower back, abdomen, gluteal region, upper thighs, and breasts differentiate them from non-accidental injuries [33].

Fig. 3 Stretch marks. Reddish, horizontally oriented, atrophic plaques involving the lower back

---

Phytophotodermatitis   Phytophotodermatitis refers to sun-induced inflammation and hyperpigmentation due to psoralens, which is commonly found in many plants, including citrus fruits [26]. It is commonly seen in children squeezing oranges and limes in sunny climates during the holidays, and it presents as linear brown burn-like blistering erythema followed by hyperpigmentation (Fig. 4) [26]. The erythema and vesicles, which are commonly linear, can even occur in the shape of hands and thus might be misdiagnosed as inflected burns or hand slaps [12, 26].

Fig. 4 Phytophotodermatitis. Well-demarcated linear dark-brown hyperpigmentation due to psoralens in citrus fruit

---

Non-linear eruptions

Mongolian spots   Mongolian spots are ill-defined grey to greenish-bluish patches that are usually present at birth or develop within the first few weeks of life. They commonly involve the lumbosacral area or the inner aspect of buttocks. Because of their color, Mongolian spots can be mistaken for bruises, especially when they are located on atypical sites (Figs. 5 and 6) [47]. Unlike bruises, they are not tender and do not evolve over time [42]. They usually fade in early childhood but can persist indefinitely.

Fig. 5 Mongolian spot. Ill-defined bluish-greenish patch on the upper back

---

Fig. 6 Mongolian spot. A bluish-greenish patch involving the right thigh

---

Hemangiomas   Hemangiomas are the most common tumors in infancy, with the majority of lesions noticed within the first few weeks of life. They are more common in girls and premature infants and may occur on the skin or mucosal surfaces [46]. They can be superficial, deep, or mixed, with the latter being the most common [23]. Superficial hemangiomas are bright red in color with a finely lobulated surface. Deep hemangiomas are warm blue-purple masses with minimal or no overlying skin changes. Because of their red color and liability to ulcerate, hemangiomas can be mistaken for physical abuse when located on lips (Fig. 7) and for sexual abuse when located on perianal area (Fig. 8). There have been many reports of such occurrences [8, 43, 62].

Fig. 7 Hemangioma. A mixed (superficial and deep) hemangioma on the lower lip

---

Fig. 8 Hemangioma. Ill-defined erythematous superficial ulcerating hemangioma involving the perianal area

---

Henoch-Schönlein purpura   Henoch–Schönlein purpura (HSP), also know as anaphylactoid purpura or allergic vasculitis, is the most common vasculitic disease in children, with an equal prevalence in boys and girls. It presents as erythematous, urticarial papules that rapidly evolve into palpable purpura. The eruption might be preceded by fever or accompanied by headache, myalgias or arthralgias, and abdominal pain. There is usually a typical symmetrical distribution around the buttocks, extensors of extremities, and distal legs, although any area of the body may be involved, including the face (Fig. 9) [16]. Because HSP presents with edema and erythema, it can be mistaken for child abuse, especially early in its course [10, 16]. Individual lesions usually fade within 5–7 days, but recurrence is possible.

Fig. 9 Henoch–Schönlein purpura. Multiple purpuras symmetrically involving the legs

---

Urticaria pigmentosa   Mastocytosis is a spectrum of diseases with tissue mast cell proliferation. It can present at birth or develop any time thereafter. Urticaria pigmentosa (UP), the most common type seen in children, is usually limited to skin involvement. It is characterized by ill-defined tan-brown papules and plaques that urticate on pressure or friction during handling or bathing the child, which is referred to as Darier’s sign (Fig. 10). Lesions may even blister or get bruised and, therefore, can be misdiagnosed as inflected injuries [25, 32]. Urticaria pigmentosa usually resolves or improves spontaneously in late adolescence.

Fig. 10 Urticaria pigmentosa. Multiple ill-defined brown papules and plaques involving the whole back and scalp

---

Dermatitis artefacta   Dermatitis artefacta (DA) is a factitious disorder characterized by intentional self-induced skin injury that can take various forms and shapes. Patients usually induce lesions to get emotional and psychological support, escape responsibilities, or collect disability insurance. It is most commonly seen in adolescent girls. The bizarre presentation and unconvincing history may lead to erroneous accusation by the patient or the medical team to family members. A thorough history and examination usually leads to the correct diagnosis. Lesions are usually seen on accessible sites, predominantly on the dominant side of the body, although they may occur anywhere (Fig. 11). Lesions usually have geometric patterns or angulated borders surrounded by completely healthy skin. Histopathology might be useful but is not always revealing. Preventing the patient from inducing lesions, by occlusive dressings or casting, usually leads to healing of the lesions, which is a helpful diagnostic tool to confirm the diagnosis.

Fig. 11 Dermatitis artefacta. Self-induced multiple well-defined, round-to-oval scars on the forearms in an adolescent girl

---

X-linked ichthyosis   This is an X-linked recessive disorder (OMIM 308100) caused by steroid sulfatase (STS) deficiency secondary to mutation in the gene encoding STS located on the distal portion of the short arm of the X chromosome. It affects only boys with females being carriers for the disease. Almost 90% of patients present within the first weeks of life with mild erythroderma and generalized peeling with large, translucent scales. Later during infancy, typical large, polygonal, dirty-looking, dark-brown adherent scales develop. The distribution is symmetrical on extremities, trunk, and neck, with a sparing of the palms, soles, and face except for the preauricular area (Fig. 12). Parents of X-linked ichthyosis (XLI) children frequently face blame for uncleanness and negligence by school officials. We had frequent requests for medical reports from parents of children with XLI to prove that their children had a skin disease that gave them the “dirty” appearance. Topical keratolytics can dramatically improve the appearance, and their use should be encouraged.

Fig. 12 X-linked icthyosis. Dirty-looking, dark-brown, polygonal scales on the neck

---

Bullous impetigo   Bullous impetigo (BI) is a relatively common, highly contagious, superficial skin infection caused by specific strains of Staphylococcus aureus. It affects young children, most commonly neonates and infants. It usually starts as small vesicles on the face, trunk, buttocks, perineum, or extremities that rapidly enlarge to flaccid bullae which evolve into erosions and crusts that heal without scarring (Fig. 13) [62]. Because of their appearance, BI can be confused with cigarette burns [47, 62]. The variable sizes, the uniphasic appearance, and the typical sites of involvement rule out the latter possibility.

Fig. 13 Bullous impetigo. Crusted erythematous erosions with few flaccid bullae on an erythematous base

---

Congenital blistering diseases   Epidermolysis bullosa (EB) is a rare inherited mechanobullous skin disease with a defective loose attachment of the epidermis to the dermis. There are many types and subtypes [63], but all are characterized by easy blistering with minimal friction and trauma [63]. Blisters can be linear and hemorrhagic with a potential for scarring, depending on the type (Fig. 14). Blisters mostly occur on friction-prone areas, mainly on extremities. Because of this appearance, EB can be mistaken for physical abuse [21, 63].

Fig. 14 Epidermolysis bullosa dystrophica. Multiple hemorrhagic bullae and ulcers with hyper- and hypopigmentation

---

Acquired blistering diseases   Chronic bullous disease of childhood (CBDC) is a form of linear IgA bullous dermatosis that occurs in children and remits spontaneously around puberty [15]. It is a rare disease, but still considered the most common acquired autoimmune blistering disease in children [15]. It is characterized by annular erythema and blisters forming “clusters of jewels” on genitalia, the lower abdomen, thighs, and periorally (Fig. 15) [15]. Epidermolysis bullosa acquisita (EBA) is a rare, acquired, bullous disease due to autoimmunity to type VII collagen. The disease has been reported mainly in adults but can occur in children. It is characterized by the development of blisters on trauma-prone areas, such as elbows, knees, and dorsa of the hands, which heal with atrophic scarring, milia, and pigmentary changes (Fig. 16). It is usually chronic and refractory to various treatment modalities. Bullous pemphigoid is the most common autoimmune blistering disease in adults, and it may occur rarely in children. The distribution is usually symmetrical and predominates on flexural areas. When any of these diseases occur in children, the blisters can be mistaken for physical and sexual abuse, depending on their location [15]. The latter is more likely when anogenital involvement occurs [44].

Fig. 15 Chronic bullous disease of childhood. Annular bullae forming “clusters of jewels”

---

Fig. 16 Epidermolysis bullosa acquisita. Multiple linear erythematous erosions and bullae with hypo- and hyperpigmentation

---

Neuroblastoma   Neuroblastoma (NB) is one of the most common solid tumors of early childhood. It arises from precursors of the sympathetic nervous system, most commonly in the adrenal medulla. The tumor metastasizes in about 60% of patients to cortical bone, bone marrow, lymph nodes, and liver [18]. Patients with localized disease are generally asymptomatic, but those with metastasis present with systemic symptoms such as fever and bone pain [61]. Metastasis to periorbital bones results in ecchymotic orbital proptosis known as “raccoon eyes”. Because raccoon eyes is a sign that classically occurs with basal skull fractures, when it happens in a patient with NB, it can be falsely suspected as child abuse [9, 28, 34].

See link for further analysis of child abuse mimickers and references:

http://www.springerlink.com/content/1204527834444356/fulltext.html

Summary

The recognition of child abuse is of great importance, but the avoidance of a false accusation for abuse is even more important. The misdiagnosis of child abuse has serious consequences for the child, the family, and the falsely accused. Therefore, all healthcare providers from different specialties, pediatricians in particular, must be aware of cutaneous child abuse mimickers. Important clues, such as congenital onset and a family history of similar skin diseases, should be carefully searched out. Whenever in doubt, referral to a dermatologist is recommended to rule out any genuine skin disease. Healthcare workers should be encouraged to report conditions mistaken for child abuse to increase awareness and, hopefully, avoidance.

Source:

http://www.springerlink.com/content/1204527834444356/

The Differential Diagnosis of Child Abuse

Michael Segal MD PhD

2010

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.

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. 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.

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:

• 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 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.

Source:

http://www.simulconsult.com/resources/abuse.html

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.