Journal of Pediatric Ophthalmology and Strabismus

Short Subjects 

Fabricated or Induced Illness Presenting as Recurrent Corneal Lesions, Cataracts, and Uveitis

Sandra Valeina, MD, MSc; Zita Krumina, MD, PhD; Svetlana Sepetiene, MD; Gunta Andzane, MD; Elize Anna Sture, MD; David Taylor, FRCOphth

Abstract

Two siblings with ophthalmic findings, psychomotor retardation, somnolence, and seizures underwent diagnostic studies, genetic investigations, ultrasonography, biomicroscopy, and posterior and anterior optical coherence tomography. Both siblings experienced eye problems at different times from the age of 6 months to 12 years. The family pedigree and neurological problems (ie, hypotony, seizures, sleepiness, and speech and psychomotor delay) suggested a metabolic or mitochondrial pathology. After exclusion of multiple potential diseases, a fabricated or induced illness was suspected. Fabricated or induced illness can be a cause for unusual clinical findings and should be considered in the differential diagnosis when ocular and other abnormalities cannot be explained after a comprehensive evaluation. The diagnosis of fabricated or induced illness should not be based on exclusion alone but rather on positive findings. [J Pediatr Ophthalmol Strabismus. 2016;53:e6–e11.]

From the Clinic of Eye Diseases, Children's Clinical University Hospital, Riga, Latvia (SV, EAS); Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Riga, Latvia (ZK); Clinic of Ophthalmology, Pauls Stradins Clinical University Hospital, Riga, Latvia (SS); Children's Clinical University Hospital, Riga, Latvia (GA); and Institute of Child Health, University College London, London, England (DT).

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Sandra Valeina, MD, MSc, Clinic of Eye Diseases, Children's Clinical University Hospital, Vienibas gatve 45, LV 1004, Riga, Latvia. E-mail: sandrav@latnet.lv

Received: September 14, 2015
Accepted: January 01, 2016
Posted Online: February 04, 2016

Abstract

Two siblings with ophthalmic findings, psychomotor retardation, somnolence, and seizures underwent diagnostic studies, genetic investigations, ultrasonography, biomicroscopy, and posterior and anterior optical coherence tomography. Both siblings experienced eye problems at different times from the age of 6 months to 12 years. The family pedigree and neurological problems (ie, hypotony, seizures, sleepiness, and speech and psychomotor delay) suggested a metabolic or mitochondrial pathology. After exclusion of multiple potential diseases, a fabricated or induced illness was suspected. Fabricated or induced illness can be a cause for unusual clinical findings and should be considered in the differential diagnosis when ocular and other abnormalities cannot be explained after a comprehensive evaluation. The diagnosis of fabricated or induced illness should not be based on exclusion alone but rather on positive findings. [J Pediatr Ophthalmol Strabismus. 2016;53:e6–e11.]

From the Clinic of Eye Diseases, Children's Clinical University Hospital, Riga, Latvia (SV, EAS); Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Riga, Latvia (ZK); Clinic of Ophthalmology, Pauls Stradins Clinical University Hospital, Riga, Latvia (SS); Children's Clinical University Hospital, Riga, Latvia (GA); and Institute of Child Health, University College London, London, England (DT).

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Sandra Valeina, MD, MSc, Clinic of Eye Diseases, Children's Clinical University Hospital, Vienibas gatve 45, LV 1004, Riga, Latvia. E-mail: sandrav@latnet.lv

Received: September 14, 2015
Accepted: January 01, 2016
Posted Online: February 04, 2016

Introduction

Fabricated or induced illness, formerly known as Munchausen syndrome by proxy, includes illnesses induced by a parent or caretaker. A child is presented for medical assessment and care, usually repeatedly, often resulting in multiple diagnostic investigations that do not show signs of organic disease. Acute symptoms and signs cease when the child is separated from the perpetrator.

In 1951, the term “Munchausen syndrome” was used by Asher1 to describe a persistent pattern seen in adults on presentation to health services with factitious somatic complaints. Literature on fabricated or induced illness in children appeared in the 1960s describing nonaccidental poisoning. In the 1970s, different presentations in children were described2 as a form of child abuse in which parents, by falsification, caused their children repeated harm from hospital procedures—a sort of “Munchausen syndrome by proxy.” The cardinal features were the intentional production or feigning of physical or psychological signs or symptoms in another person who is under the individual's care. The motivation behind the perpetrator's behavior is to assume the sick role by proxy. External incentives for the behavior (such as economic gain) are absent and the behavior is not accounted for by another mental disorder.2

Case Reports

In 2001, a girl aged 1.5 years presented to the Department of Emergency Medicine in Children's Clinical University Hospital, Riga, Latvia, with a red left eye. There was a corneal wound with anterior synechiae and cataract. The mother said that the patient had possibly tripped over a tree branch, but she was not present at the accident. Cataract surgery with intraocular lens implantation was performed and amblyopia treatment initiated. Secondary uveitis with vitreous destruction and fibrosis occurred several times in the early and late postoperative period and was interpreted as post-traumatic complications.

In March 2002, the patient's brother, a premature infant with a birth weight of 1,800 g, underwent screening for retinopathy of prematurity in the same hospital and was diagnosed as having stage 2 retinopathy of prematurity and spontaneous regression. The cornea, lens, and vitreous were clear. At age 7 months he presented for follow-up consultation, and bilateral cataracts were diagnosed. Cataract surgery with intraocular lens implantation was performed. The boy experienced two episodes of secondary uveitis with vitreoretinal destruction and fibrosis during the late postoperative period.

During the first year, there was a slight delay in his psychomotor development, attributed to prematurity, and his examination became increasingly difficult. He started to utter some words but with time his development showed signs of regression. He lost speech and his behavior became increasingly autistic. His mother said he had “seizure-like episodes.” During the next 6 years, he attended pediatric departments with various illnesses (eg, Staphylococcus skin infections, pneumonia, and thrombophlebitis). He was observed and treated in multiple clinics. Numerous studies were performed in Latvia and abroad, but no cause was found for the condition. In 2007, bilateral uveitis, vitreous destructive changes, and further lens and capsular opacification were noted. Both intraocular lenses were removed. In October 2008, the boy was admitted to the Pediatric Intensive Care Unit with pneumonia, pleuritis, pericarditis, and renal failure, and he died at the age of 6 years.

His sister was examined during the same time. She also had mild psychomotor delay. She did well in kindergarten and at school but did not start to speak until the age of 4 years. From time to time, she became lethargic and had seizure-like episodes (as described by the mother). In 2008, when the patient was 9 years old, her visual acuity in the left eye was 20/200, which was explained as post-traumatic amblyopia after corneal lesions, cataract surgery, and secondary uveitis in 2001; her visual acuity in the right eye was 20/20 with myopic correction (−1.50 diopters [D]).

In January 2009, 3 months after her brother's death, the patient suffered sudden loss of vision in her right eye. A corneal lesion, anterior synechiae, and cataract were detected (Figure 1). The mother and the patient denied any injury. After cataract surgery and intraocular lens implantation in the right eye, the patient's visual acuity was 20/30 with an astigmatic correction (−1.50 D cylinder). In July 2009, she was admitted to hospital with sudden intraocular hemorrhages in the right eye. Slit-lamp examination demonstrated two peripheral stromal and endothelial corneal lesions (Figure 2). The blood in the anterior and posterior chambers resolved in 7 days and she was discharged from hospital with visual acuity of 20/30.


External photograph of the patient's right eye in January 2009.

Figure 1.

External photograph of the patient's right eye in January 2009.


Slit-beam photograph of the patient's right eye cornea in July 2009.

Figure 2.

Slit-beam photograph of the patient's right eye cornea in July 2009.

In October 2009, the patient was admitted to the Children's Clinical University Hospital with an intraocular pressure of 36 mm Hg, hemophthalmus, secondary uveitis, and, after 10 days, retinal detachment of the right eye (Figure 3). After successful topical anti-glaucoma therapy, systemic corticosteroids were started and vitreoretinal surgery performed. The right eye recovered better than expected. After the blood absorption and corneal edema reduction, slit-lamp examination showed new corneal and iris lesions (Figure 4). The patient's visual acuity improved to 20/40 and occasionally 20/50 with hyperopic correction (+8.00 D).


Slit-lamp digital photograph of the patient's right eye with corneal lesions, hyphema, and iris lesions in October 2009.

Figure 3.

Slit-lamp digital photograph of the patient's right eye with corneal lesions, hyphema, and iris lesions in October 2009.


Slit-beam photograph of iris lesions in the patient's right eye in October 2009.

Figure 4.

Slit-beam photograph of iris lesions in the patient's right eye in October 2009.

There were continued suspicions of and investigations for the conditions including muscle biopsy (normal) for inherited metabolic or mitochondrial disease, which included those for seizures, mental retardation, and eye involvement and those associated with both the cause of death of the younger sibling and the cause of the girl's eye lesions.

In October 2011, the mother said that the patient had had a fever with drowsiness and after 2 days her left (amblyopic) eye was irritated. Slit-lamp examination showed multiple corneal lesions with hyphema (Figures 56). She was admitted to hospital and anterior segment optical coherence tomography showed full-thickness corneal injuries (Figures 78). The epithelial defects had reepithelialized and the differing repair of the corneal wounds suggested different ages. Underlying damage to the iris was found. With topical steroids and antibiotic drops, she showed improvement while she was in hospital but the lesions reappeared shortly after discharge.


Slit-lamp photograph of the patient's left eye with corneal lesions and hyphema in October 2011.

Figure 5.

Slit-lamp photograph of the patient's left eye with corneal lesions and hyphema in October 2011.


Slit-beam photograph of the patient's left eye with multiple corneal lesions in October 2011.

Figure 6.

Slit-beam photograph of the patient's left eye with multiple corneal lesions in October 2011.


Anterior segment optical coherence tomography of the patient's left eye with corneal lesions in November 2011.

Figure 7.

Anterior segment optical coherence tomography of the patient's left eye with corneal lesions in November 2011.


Anterior segment optical coherence tomography of the patient's left eye with iris lesions in November 2011.

Figure 8.

Anterior segment optical coherence tomography of the patient's left eye with iris lesions in November 2011.

Suspicions were raised about fabricated or induced illness and child abuse and were reported to the State Inspectorate for the Protection of Children's Rights, led by a psychotherapist. The investigation showed that every time before new lesions appeared, the mother, who was a nurse, told the family physician about seizures, and intravenous diazepam or phenobarbital was prescribed. Five diazepam ampoules (2 mL/10 mg), syringes, needles, and a tourniquet were found in the mother's car. She had sedated the patient and used a hypodermic needle to cause the eye injuries of different depth. In court, the mother said that she had also caused similar lesions to the eyes and heart of her son and daughter who had already died. In the investigation before trial, the mother confessed that she had artificially induced thrombophlebitis with necrosis in the lower and upper extremities by catheterizing peripheral veins. This caused long-term, artificially induced infectious pericarditis and pneumonitis with later multi-organ failure. The mother inserted a hypodermic needle in the heart and eventually injected potassium chloride 7.45% solution—the cause of death of the younger boy. The mother was arrested and a criminal action was started. In 2013, the mother was sentenced to life imprisonment for the murder of two children and the mutilation of the patient.

The patient's family history (Figure 9) revealed that the mother's first daughter from another father died suddenly at the age of 3 years after admission to the Pediatric Intensive Care Unit of Children's Clinical University Hospital with unexplained myocarditis and pericarditis. The first child's father did not live with the family and did not visit his daughter. The second and the third child's father said that the mother did not allow him to see his children. He was alcoholic, lived separately, and had not seen the children since 2002. The mother grew up in an orphanage and was adopted as a teenager.


Family tree of the patient's family.

Figure 9.

Family tree of the patient's family.

Discussion

In 1998, Levin3 published a list of signs raising the possibility of Munchausen syndrome by proxy, many of which were found in our cases (Table 1).


Detailed Explanation of Munchausen Syndrome by Proxy

Table 1:

Detailed Explanation of Munchausen Syndrome by Proxy

There are several reports of anterior segment involvement associated with child abuse or with the related fabricated or induced illness. The essential feature in fabricated or induced illness is that the perpetrator becomes a psychological beneficiary of the abusive actions, otherwise it is the more common, but no more or less serious, child abuse.

Such cases are rare in the literature. In one study, a 5-month old infant had five episodes of swollen, erythematous eyelids with areas of crusting and bleeding, conjuctival injections, and recurrent keratoconjunctivitis.4 Multiple dermatology, gastroenterology, otolaryngology, infectious disease, allergy, and immunology consultations and examinations were performed for repeated crusting and ulceration of the face, cutaneus erosions of the ear lobe, otitis media, and lesions in oropharynx and esophagus. Atypical mucocutaneous lesions that reappeared after discharge raised suspicion of induced injuries. Child protection procedures led to the mother admitting that she had inflicted the injuries.

Taylor and Bentovim described two siblings with nonaccidentally inflicted chemical eye injuries.5 The brother and sister had mostly bilateral recurrent lower half, ultimately blinding, keratoconjunctivitis. The girl also had skin lesions and psychiatric disturbances, suggesting self-inflicted injuries. The parents denied inflicting injuries, suggesting that building work at home induced the irritation. Both parents had psychiatric disturbances.

Ong et al. described two unrelated children with bilateral recurrent inferior half ocular lesions.6 Additional signs suggesting child abuse in these cases included parietal fractures, subdural effusions, and femur and tibia fractures.

In a report by Voutilainen and Tuppurainen, a young girl suffered repeated self-inflicted ocular injuries with chemicals and mechanically with a safety pin.7 Neurological and cardiovascular examinations were performed without positive results. Apparently causeless reappearance of ocular lesions and the patient's unconcerned attitude to her illness suggested a self-inflicted injury. After year-long examinations and treatment, the patient revealed her efforts to escape an incestuous relationship with her father, which led to psychiatric disorders and self-inflicted injuries.

Another report described a teenage girl who presented with multiple central corneal punctures in both eyes.8 After exclusion of trauma, general health assessment, and analysis of the family background (she was living with her divorced mother, stepfather, and four brothers), the medical team suspected self-inflicted injuries.

Tournel et al. examined a boy aged 3 years who was admitted to hospital with genital injuries to previous phimosis surgery wounds and with bilateral conjuctivitis and corneal perforations.9 There was no trauma history and no relationship found between the genital injuries and the conjuctivitis with corneal perforations. Ocular lesions recurred three times with improvement made during the hospitalization and exacerbation occurring shortly after discharge. Investigations revealed that injuries were inflicted by the mother's boyfriend who wanted to live alone with the boy's mother.

A detailed explanation of fabricated or induced illness is included in the Serious Case Report to Cumbria Child Protection committee of events leading to the death of Michael.10 It concerns the case of a 7-year-old boy killed by his mother's overdosing of epilepsy drugs.

In all of these reports, similarities to our cases can be found. Typically, ocular lesions are bilateral with anterior segment involvement; they are recurrent and resolve better than expected with minimal treatment during hospitalization. Despite a traumatic appearance, there is no clear history of trauma. Usually, the lesions recur shortly after discharge from hospital. In some cases, there are symptoms from multiple organ systems, patients are examined and treated in different departments, and no cause is found. Parents and children deny trauma and psychiatric disturbances, and a history of difficult family relationships is common.

Conclusions

Our cases showed a wide range of ocular injuries during 9 years in two siblings with fabricated or induced illness.

Physicians rightly believe in people, especially parents, because they normally know and love their children. It is essential to listen to and hear the parents because it helps physicians understand and treat patients. However, there are cases when the parents maltreat their children, which sometimes manifests in a form of violent cruelty. In all cases, health care professionals must always be aware of the possibility of fabricated or induced illness and child abuse and do their best to recognize the symptoms and signs of potential abuse early in the examination, however rare and irrational such actions may seem.

References

  1. Asher R. Munchausen's syndrome. Lancet. 1951;1:339–341. doi:10.1016/S0140-6736(51)92313-6 [CrossRef]
  2. Meadow R. Munchausen syndrome by proxy: the hinterland of child abuse. Lancet. 1977;2:343–345. doi:10.1016/S0140-6736(77)91497-0 [CrossRef]
  3. Levin AV. The ocular findings in child abuse. In: Focal Points: Clinical Modules for Ophthalmologist. [online module]. San Francisco: American Academy of Ophthalmology; 1998. Available at: http://www.aao.org
  4. Baskin DE, Stein F, Coats DK, Paysse EA. Recurrent conjunctivitis as a presentation of munchausen syndrome by proxy. Ophthalmology. 2003;110:1582–1584. doi:10.1016/S0161-6420(03)00489-5 [CrossRef]
  5. Taylor D, Bentovim A. Recurrent nonaccidentally inflicted chemical eye injuries to siblings. J Pediatr Ophthalmol. 1976;13:238–242.
  6. Ong T, Hodgkins P, Marsh C, Taylor D. Blinding keratoconjunctivitis and child abuse. Am J Ophthalmol. 2005;139:190–191. doi:10.1016/j.ajo.2004.06.089 [CrossRef]
  7. Voutilainen R, Tuppurainen K. Ocular münchhausen syndrome induced by incest. Acta Ophthalmol (Copenh). 1989;67:319–321. doi:10.1111/j.1755-3768.1989.tb01879.x [CrossRef]
  8. Ang M, Chee SP. An unusual case of self-inflicted penetrating needle injury to both eyes. Graefes Arch Clin Exp Ophthalmol. 2006;244:1696–1697. doi:10.1007/s00417-006-0301-y [CrossRef]
  9. Tournel G, Desurmont M, Bécart A, Hédouin V, Gosset D. Child barbarity and torture: a case report. Am J Forensic Med Pathol. 2006;27:263–265. doi:10.1097/01.paf.0000233532.18076.14 [CrossRef]
  10. Public Report to Cumbria Child Protection Committee: serious case review of events leading to the death of Michael who was a victim of fabricated or induced illness (FII) (formerly known as Munchausen syndrome by proxy). In: Working Together (pt 8). 2014. Available at: http://www.cumbria.gov.uk/eLibrary/Content/Internet/327/3823713560.pdf

Detailed Explanation of Munchausen Syndrome by Proxy

Signs Raising Possibility of Munchausen Syndrome by ProxyaCurrent Case
Disorder that is difficult to diagnose and patient does not respond to treatment in predictable mannerRepeated traumatic cataracts with anterior synechiae without well-founded history
Does not fit into any known diagnostic categoryRepeated unclear corneal lesions
Intermittent and unpredictable symptomsRepeatedly new anterior segment lesions
ChronicNew symptoms for girl from age 1.5 to 11 years, for her brother age 7 months to 6 years
“Never seen a case like this before”Investigations of inherited metabolic or mitochondrial disease with mental retardation, seizures, and specific anterior segment alterations
Mother overly involved with child's care (eg, speaks for the child, never leaves bedside, father absent or uninvolved, and overly bonded maternal-child relationship)Mother's close and sometimes predominant relationship with children, with unusual feeling about age-appropriate upbringing (eg, dressing and attitude to children) at times as observed by physicians; father was never seen in hospital, had no interest in children, and was alcoholic according to mother
Mother social and inappropriately happy during hospitalization (eg, bonds with ward staff and is at ease with bad news)Mother willingly told of and explained new symptoms, with little concern about new exacerbations, as observed by physicians
Siblings with unexplained illnessTwo spontaneous miscarriages, causeless illnesses, and unclear death of two siblings at young age
Mother with prior access to or experience in health care systemMother was pediatric nurse, educated, and conversant, as described by physicians

10.3928/01913913-20160122-01

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