Difficult diagnosis of factitious disorder

Abstract

Factitious disorder imposed on another, or medical child abuse, has been rarely reported to have primary ocular presentations. We report an unusual and difficult diagnosis of factitious disorder imposed by a mother on her infant resulting in bilateral blindness. An infant was referred with a history of recurrent periorbital cellulitis and sanguineous discharge associated with seizure-like episodes. Symptoms have been going on for more than 14 months, and child had been treated by different physicians from different specialties without a clear ophthalmic diagnosis. The right eye was previously enucleated at an outside hospital for secondary complications of similar symptoms. He was admitted for exhaustive diagnostic tests and multiple surgical treatments, and his hospital stay was complicated with multiple corneal perforations and apnoeic episodes despite optimal treatment. After suspicion of factitious disease, continuous electroencephalography and video monitoring revealed evidence of the mother inflicting physical harm to her child.

Background

Factitious disorder imposed on another (FDIA) is a form of medical child abuse, characterised by the intentional infliction or fabrication of a disability or illness in a patient by their caregiver.¹ Diagnosis is difficult and often delayed, which contributes to significant morbidity and mortality. It is even more challenging in the paediatric population, where the medical history is mainly derived from the parents and potential perpetrators.² Ocular injury as a result of FDIA is very rare and hardly ever the primary medical presentation.³ We report a unique case of FDIA with chronic bilateral recurrent ocular injury that was induced and perpetuated by a mother on her infant, and resulted in bilateral blindness. This case report complies with the tenets of the Declaration of Helsinki and Health Insurance Portability and Accountability Act Regulations.

Case presentation

An infant was referred to our tertiary care centre for a 3-week history of left preseptal cellulitis. His mother reported recurrent bouts of periorbital swelling and serosanguinous discharge resistant to antibiotic therapy. These symptoms occurred in an increasing frequency for the past 14 months and in conjunction with generalised seizure-like tonic episodes followed by cyanotic spells as reported by the mother. The patient received outpatient care by multiple physicians of different specialties including neurologists and ophthalmologists. He was maintained on antiepileptic medications and received multiple courses of topical and systemic antibiotics. His right eye was enucleated 7 months prior to presentation at another hospital for secondary complications of similar symptoms. Chart review of outside hospital records was pertinent for diagnosis of corneal perforation with chronic retinal detachment, and histopathological examination showed chronic inflammation.

The patient was under the care of his mother. As per her description, she was living in very poor conditions and had limited support. There were no perinatal complications, and the family denied any other systemic complaints, trauma or environmental exposure. Social history was also investigated and the family denied any signs of neglect or abuse.

Investigations

Examination under anaesthesia revealed left periorbital swelling, severe bulbar conjunctival injection, chemosis, subconjunctival haemorrhages, along with scarring and contraction with hooding over the superior cornea suspicious for ligneous conjunctivitis (figure 1). Corneal examination showed an inferior epithelial defect from the 3’ o’clock to the 6’ o’clock position reaching limbus, along with stromal thinning. Stromal infiltrates and corneal haze were noted to be involving the inferior corneal hemisphere reaching pupil. Corneal swabs and scrapings for smear and bacterial, fungal, viral and amoebic cultures were taken. The remainder of ophthalmic examination including eyelid margin, skin and palpebral conjunctiva were otherwise unremarkable, without any sign of scarring or trachoma.

Figure 1.

Clinical photography demonstrating: (A) left periorbital swelling and intact eyelid skin. (B) Left severe conjunctival chemosis. (C) Left conjunctival haematoma with prominent scarring and fibrosis, along with inferior corneal epithelial defect and infiltrate.

The patient was admitted for monitoring and further workup and was started on fortified topical and intravenous antibiotics. Orbital imaging including CT scan, MR angiography were pertinent for left preseptal diffuse oedema with contrast enhancement and orbital fat streaking (figure 2). The left eye appeared shrunken and deformed with enophthalmos and deranged intraocular contents. Conjunctival biopsy showed diffuse fibrosis and non-specific inflammation with mixed polymorphonuclear leucocytes, lymphocytes and blood extravasation. There were no signs of amyloid or eosinophilic deposits. Workup including complete blood count, C reactive protein, erythrocyte sedimentation rate, antinuclear antibodies, plasminogen, anti-double stranded DNA, antineutrophil cytoplasmic antibodies, swab cultures, gram stain and electroencephalography (EEG) were all negative.

Figure 2.

(A) Axial orbital CT scan showing left preseptal soft tissue oedema and diffuse enhancement. (B) T2-weighted orbital MRI showing left preseptal oedema and faint intraconal fat streaking and mixed vitreous dark filling defects due to coarse calcifications. (C) T1-weighted orbital MRI showing left preseptal eyelid soft tissue oedema with heterogeneous areas of increased signal, depending on the degree of calcification and haemorrhage, also noted is left hypointense well-circumscribed lesions.

Differential diagnosis

The leading differential included vasculitis, vitamin A deficiency, trachoma and ligneous conjunctivitis. Hospital stay in the paediatric intensive care unit was complicated by recurring apnoeic episodes and progressive corneal melting followed by perforation despite fortified topical antibiotics and steroids. A tectonic corneal graft was applied, and the patient’s poor visual prognosis was discussed with his mother who appeared distraught and asked to do whatever it takes to save her child’s eye, and even expressed willingness to donate one of her eyes if it helps him. Child abuse was suspected by the primary care team given the lack of improvement and the child’s worsening condition despite aggressive management. Furthermore, no seizure episodes were observed during the child’s hospital stay; however, he developed apnoeic episodes that were unwitnessed by the nursing staff. After the suspicion was raised, a multidisciplinary care meeting including ophthalmologists, child psychiatrists and neurologists was organised, and the decision was made to subject patient to 24-hours EEG and CCTV monitoring. On reviewing the video recording, the mother was seen blocking the camera view a few seconds before a new apnoeic episode started, and there was a significant delay until she called for help even after the vital signs monitor alarm sounded.

Outcome and follow-up

The mother was referred for psychiatric evaluation after refusing to disclose any information and resisting cooperation with the law enforcement authorities. No suspicious instruments or chemicals were found in her possession. A child psychologist confronted the mother with evidence and the mother confessed to suffocating the child and repeatedly injuring his eyes. She did not disclose the mechanism of injury nor her reasons for doing that. The child was immediately put under custody of child protection services. His ophthalmic condition significantly improved after separation from his mother, with gradual resolution of periorbital swelling and conjunctival chemosis.

The patient did not have any apnoeic or seizure-like episode again during the rest of his hospital stay and at 3 months follow-up. He eventually had poor vision in the left eye with a final visual outcome of no light perception secondary to severe ocular injury. The patient’s grandmother was granted legal custody of the child and a no-contact order was placed against the mother who is currently receiving mental health treatment.

Discussion

The first case description of ‘Munchausen syndrome by proxy’ was by Meadow in 1977.⁴ This rare and radical condition of abuse has been redefined as ‘Factitious disorder imposed on another’ in the fifth edition of the diagnostic and statistical manual (DSM-V). The DSM-V specifies four diagnostic criteria including falsification of symptoms or induction of injury on another. It also stresses on the presence of deceptive behaviour and the absence of a clear external reward.¹ Although FDIA is a form of child abuse, a clear distinction should be made between FDIA and other forms of child abuse that do not meet the above diagnostic criteria, especially in regard to the perpetrator’s motives and incentives. Medical child abuse (MCA) is a broader term used in paediatric literature and describes unnecessary and harmful medical care done at the instigation of a caretaker.⁵ The MCA may be driven by various intentions including pure financial gain. In contrast, although no longer a requirement for diagnosis, the principal motive in FDIA is for the perpetrator to assume the sick role by proxy to satisfy their own desire for sympathy and medical attention.⁶ Other forms of child abuse may involve the eye including direct physical abuse; however, ocular injury as a result of fabricated illness is very rare, more difficult to diagnose and usually associated with severe consequences.³

The diagnosis of FDIA in children can be challenging and there remains a significant delay before this diagnosis is made considering that the perpetrators are also the custodians and source of medical history.² A wide range of clinical presentations of FDIA have been reported in the literature, including seizures, bleeding, fever, rash and others. Physicians often engage in extensive and expensive work-ups in an attempt to find rational medical explanations, which eventually leads to a delayed diagnosis that is estimated at around 15–21.8 months from symptom onset.^{7 8} No specific behavioural pattern has been shown to reliably identify perpetrators of medical child abuse; however, common repetitive features, although subjective, may serve as early warning signs. In many cases, the perpetrator was found to be overly attached to the medical staff, unconcerned with the delay in diagnosis, unusually familiar with medical terminology and welcoming to more invasive procedures.^{9 10} In our case, the mother did not demonstrate any of this behaviour, and her conduct was like any genuinely worried parent. This behaviour made it further difficult for the medical staff to detect any signs of abuse or deceit from the caregiver.

Gold-standard tests used to confirm suspicions of medical child abuse are covert video surveillance and separation test, where the condition improves after separation from the caregiver.⁶ In most cases, diagnosis is impossible, or at worst delayed, without video evidence.¹⁰ In our case, the mother was aware that she was being monitored and attempted to conceal the evidence by blocking the camera view. The video evidence in this case, although circumstantial, was highly probative and confirmed by a positive separation test, since the child’s condition greatly improved after he was separated from his mother. Although no direct evidence was obtained, but the authors believe the likely mechanism of injury to the eyes was mechanical, which explains many of the signs including scarring and subconjunctival haemorrhages and goes along with likely mechanical obstruction of airways.

Ophthalmic injuries associated with FDIA are rare and hardly ever the primary medical presentation. Although there are multiple reports of ophthalmic self-induced factitious disorders, there are only few other reported cases of FDIA with primary ocular manifestations.^11–13 In all these cases, the patients’ mother was the perpetrator and diagnosis was only established after hospital admission and extensive multidisciplinary evaluation. Two cases similarly involved recurrent conjunctivitis^{11 12} and one involved recurrent corneal lesions, cataracts and uveitis in two siblings.¹³ A very interesting observation that illustrates a similar behavioural pattern is that in the cases reported by Valeina et al—similar to our case—the victims had associated history of seizures-like episodes along with the eye involvement.¹³ Other similar features include bilateral involvement, episodic exacerbations and unpredictable nature of symptoms. Only one of the aforementioned cases was similarly associated with bilateral irreversible vision loss.⁸ Previous reports have identified signs alerting to FDIA, mostly a difficult diagnosis, case never seen before, chronic intermittent and unpredictable symptoms, and mother social and inappropriately happy during hospitalisation.⁹ In our case, the patient’s mother was overly involved in her child’s care; however, she had a congruent affect and even offered to donate one of her eyes to save her child’s vision. Another interesting observation is that in all previous reports of ophthalmic related abuse, the patients’ condition improved during hospitalisation and recured or worsened after discharge. In our case, the injuries continued to be inflicted during hospitalisation, despite being in a monitored room with an open-bed arrangement separated by curtains. A recent review on medical child abuse found that in up to 54% of cases, perpetrators continue abuse during hospitalisation.⁶ Other cases of FDIA have been reported with associated rare ophthalmic manifestations that appeared after different primary presentations such as unexplained bleeding¹⁴ and systemic autoinflammatory disease.¹⁵

There is no single behaviour or personality profile that perpetrators of FDIA fit into; however, virtually all of them—like our case—were found to be biological mothers of the victims.^{7 16} Personality disorders, depression and factitious disorder imposed on self were the most frequent psychiatric disorders among abusers.⁶ The patient’s mother was living in very poor conditions, marginalised and faced with unrivalled amount of psychological strain which may have been aggravating factors. Furthermore, most perpetrator mothers have been shown to have a common history of loneliness, isolation and psychological disturbance, most commonly depression.¹¹ Nonetheless, FDIA has been shown to be present in all ethnic groups, socioeconomic status and educational backgrounds.¹⁷

Learning points.

In conclusion, the described case of factitious disorder imposed on another (FDIA) aims to alert medical practitioners, especially ophthalmologists, to the complex clinical presentations and prospects of this illness in susceptible individuals. The diagnosis of FDIA is challenging, which is why ophthalmologists should be aware of this condition to identify similar patients at the earliest stage and prevent potentially dreadful outcomes.

• Ophthalmic injuries may be the primary medical presentation of FDIA.

• FDIA can lead to bilateral irreversible blindness.

• Healthcare providers should not assume that perpetrators will cease the abuse once the victim has been hospitalised.

Ethics statements

Patient consent for publication

Consent obtained from parent(s)/guardian(s).