Case 16

A 3-month-old male infant presents to the emergency department with a history of turning blue while sleeping. The baby was born at 40 weeks of gestation and there were no birth complications except for mild jaundice on day 3 of life. There is an older sister that is healthy. This is the third episode of cyanosis and the mother is concerned that "no one is listening to her." The baby was admitted to the hospital at one month of age with a similar episode and was sent home on a cardiac/apnea monitor. At that time, a sepsis work-up and brain imaging were performed and all tests were negative for disease. Since one month ago, the baby has been seen at the primary care office for 12 visits and multiple phone calls regarding various concerns, including spitting up, twitching movements, a question of a cyanotic episode and an episode of limpness. The baby is growing well and has had a normal examination on all prior visits. He is scheduled for a barium swallow test next week and has an appointment with a gastroenterologist. There is no family history of infant deaths or congenital abnormalities and no history of seizures. The mother states that the monitor is not working correctly because it did not alarm when the baby was turning blue. On examination, the baby is afebrile, smiling and cooing, is well hydrated and has a normal examination.

Which one of the following is an appropriate next step?

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A. Admission to the hospital after an evaluation for possible sepsis.

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B. Send the baby home and advise that the parents to follow up with the primary care provider in the morning.

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C. Admission to the hospital for observation of the baby, review of all records and observation of the maternal/infant interactions.

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D. Send the baby home and notify child protective services.

Which one of the following is an appropriate next step?

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A. Admission to the hospital after an evaluation for possible sepsis.

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B. Send the baby home and advise that the parents to follow up with the primary care provider in the morning.

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C. Admission to the hospital for observation of the baby, review of all records and observation of the maternal/infant interactions.

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D. Send the baby home and notify child protective services.

The best answer is C

Due to the life-threatening nature of the complaint (a cyanotic episode), further evaluation to assess the situation is necessary. However, the history and examination suggest that this baby has been well and healthy and that the maternal concerns have influenced the medical evaluations up until now.

Answer A is incorrect because the likelihood of sepsis is very low in this healthy infant.

Answer B is incorrect for several reasons. First, the symptom of cyanosis in a baby is a serious concern and other than sepsis, which seems unlikely in this case, could be a sign of cardiac, respiratory or metabolic disease. Some acknowledgment of this is necessary. The least invasive evaluation is to provide a safe setting for observation. The child actually may have had a cyanotic episode and observation for at least 24 hours to observe for repeated symptoms is recommended.

Second, there is a demonstrated pattern of repeated physician visits and evaluations. Although the primary care physician likely knows this patient well, the physician’s assumptions regarding the verity of the symptoms as portrayed by the mother may be part of the problem. In the acute care setting where the provider is meeting this family for the first time, it may be difficult to ascertain if the symptoms are false or if the child actually has an as yet undiagnosed and possibly rare abnormality causing what is referred to as an "acute life-threatening event," or ALTE.

Finally, there is also a concern that the mother may not just be fabricating the symptoms but may actually be causing them. Observation in an inpatient setting should reduce the risk of further harm to the child. The possibility of abusive head trauma should be considered (see reference below).

Answer D is incorrect for the above reasons and because notifying child protective services in this situation, before reviewing records and taking the time to observe the baby and mother, will likely only delay the diagnosis.

The diagnosis of child abuse in the medical setting, or medical child abuse, is made when harmful or potentially harmful and/or invasive treatment is given in the absence of a medical disease. This diagnosis is often still called "Munchausen syndrome by proxy," but this label is no longer used by most child abuse pediatricians.

The injuries caused by medical abuse are due to the physician(s) prescribing treatments, diagnostic tests, surgeries and therapies based on good faith and the well-meaning but misguided pursuit of an elusive diagnosis and/or effective treatment. Potentially harmful medical care should be weighed against the benefits of treatment or diagnosis. In the situation of medical abuse, the providers generally believe the history and symptoms presented to them. The intent of the person (mother or father) who relays the symptoms is not the issue. The main problem is that the relaying of the fabricated or exaggerated symptoms causes harm to the child through medical investigation or treatment. The diagnosis cannot be made solely by social workers, therapists or other non-medical providers. The determination of whether a true medical condition exists, whether the work-up or treatment is at or beyond the level expected for the specific medical illness, and whether harm has been caused can best be determined by an objective review of the medical records.

The name Munchausen syndrome by proxy implies that this problem is due to a syndrome. Medical child abuse is not a syndrome. Although there are similarities in presentations and some "classic" presentations, each case must be analyzed individually. Observation in a hospital setting allows for documentation of parental concerns coupled with objective evaluations of the patient by clinical staff. In some cases, the hospitalization itself removes whatever stresses led the parent to pursue care or provides the needed attention so that the cycle is temporarily broken. However, physicians and other hospital staff should be careful to avoid perpetuation of the problem by discussions of extensive differential diagnoses and continued testing beyond negative screening evaluations. If there is an underlying problem, objectivity should lead to a correct diagnosis. The most important result is to address the problem without further harm to the child.

Stirling J Jr, American Academy of Pediatrics Committee on Child Abuse and Neglect. Beyond Munchausen syndrome by proxy: identification and treatment of child abuse in a medical setting. Pediatrics. 2007; 119 (5) : 1026-30

DOI • PubMed

The condition widely known as Munchausen syndrome by proxy comprises …

The condition widely known as Munchausen syndrome by proxy comprises bothphysical abuse and medical neglect and is also a form of psychologicalmaltreatment. Although it is a relatively rare form of child abuse, pediatriciansneed to have a high index of suspicion when faced with seemingly inexplicablefindings or treatment failures. The fabrication of a pediatric illness is a formof child abuse and not merely a mental health disorder, and there is apossibility of an extremely poor prognosis if the child is left in the home. Inthis statement, factors are identified that may help the physician recognize thisinsidious type of child abuse that occurs in a medical setting, andrecommendations are provided for physicians regarding when to report a case totheir state's child protective service agency.
Guenther E, Powers A, Srivastava R, Bonkowsky JL. Abusive head trauma in children presenting with an apparent life-threatening event.. The Journal of pediatrics. 2010; 157 (5) : 821-5

External Link • DOI • PubMed

OBJECTIVE: To identify rates of abusive head trauma and associated clinical …

OBJECTIVE: To identify rates of abusive head trauma and associated clinical risk factors in patients with an apparent life-threatening event (ALTE). STUDY DESIGN: Retrospective study of infants, 0 to 12 months, admitted for an apparent life-threatening event (ALTE; 1999-2003). Patients with abusive head trauma were identified at presentation or on follow-up; statistical analysis identified characteristics associated with abusive head trauma. RESULTS: Of 627 patients with ALTE, 48% were male. Nine (1.4%) were diagnosed with abusive head trauma, of whom 5 were diagnosed in the emergency department. All cases detected in the emergency department had physical examination findings indicative of abusive head trauma. Patient age, male sex, or ethnicity were not significantly different between those with and without abusive head trauma. More children with abusive head trauma had a documented 911 call (56% vs 22%, P = .029), vomiting (56% vs 19%, P = .018), or irritability (22% vs 3%, P = .033). Multivariate analysis revealed odds ratio for abusive head trauma were 4.9 with a 911 call (P = .037), 5.3 with vomiting (P = .024), and 11.9 with irritability (P = .0197). CONCLUSIONS: Abusive head trauma is in the differential for infants with an ALTE, although almost half of the cases are missed by current emergency department management. Vomiting, irritability, or a call to 911 are significantly associated with heightened risk for abusive head trauma.