Paeds Vivas · child-safety-and-social-paediatrics
Perplexing presentations and diagnostic uncertainty — branching viva
Branching viva on the child whose reported symptoms do not fit any recognised disease: the RCPCH three-level escalation, the three-limb parallel differential, the judicious investigation strategy, the over-investigation spiral, the safety-netted multidisciplinary pathway, and the threshold for a child-protection referral.
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Opening
Examiner: A seven-year-old boy is referred to you after two years of recurrent vomiting, lethargy and fainting episodes. He has been seen at four hospitals, has had repeated blood tests, two endoscopies and a CT, and is on two medications. His parents give different histories. His school attendance is under 30%. His mother is asking you to insert a feeding tube. How do you frame this? [5]
Candidate: I would frame this as a perplexing presentation — a clinical situation in which the reported symptoms, signs and findings are not adequately explained by any recognised disease, but in which there is not yet objective evidence of harm or falsification. The RCPCH describes this as the middle of a three-level escalation: alerting signs raise concern, the perplexing presentation triggers structured assessment, and fabricated or induced illness is the child-protection end. My job is to hold three limbs in parallel — a genuine rare or complex organic disease, a medically unexplained or functional disorder, and a safeguarding concern — and to resist the two opposite errors: dismissing genuine disease, or jumping to an abuse label without evidence. I would not agree to a feeding tube today. [5]
Branch 1 — the balanced differential
Examiner: Walk me through how you build the three-limb differential. [5]
Candidate: For the organic limb, I look for reproducibility on independent observation, objective findings between episodes, a trajectory consistent with a known disease, and a response to disease-directed treatment. For the functional or somatising limb, I look for a consistent functional pattern, a personal or family history of somatisation or anxiety, normal objective findings throughout, and a positive response to a functional explanation and rehabilitation. For the safeguarding limb, I look for symptoms present only in one caregiver's presence, discrepancies across records from different centres, objective absence on separate observation, and escalating, unjustified intervention causing iatrogenic harm. None of these limbs is mutually exclusive — a child may have a real, mild disease overlaid by exaggeration, or a somatising adolescent who is also being harmed. [5] [3]
References8ShowHide
- [1]Bass C; Glaser D Early recognition and management of fabricated or induced illness in children. Lancet, 2014.PMID 24612863
- [2]Flaherty EG; Macmillan HL; Committee On Child Abuse And Neglect Caregiver-fabricated illness in a child: a manifestation of child maltreatment. Pediatrics, 2013.PMID 23979088
- [3]Garralda ME Unexplained physical complaints. Pediatric Clinics of North America, 2011.PMID 21855708
- [4]Wong SH; McClaren BJ; Archibald AD; et al A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy. European Journal of Human Genetics, 2015.PMID 25626706
- [5]Glaser D; Davis P For debate: Forty years of fabricated or induced illness (FII): where next for paediatricians? Paper 2: Management of perplexing presentations including FII. Archives of Disease in Childhood, 2019.PMID 29618483
- [6]Singh H; Thomas EJ; Wilson L; et al Errors of diagnosis in pediatric practice: a multisite survey. Pediatrics, 2010.PMID 20566604
- [7]Jenny C; Metz JB Medical Child Abuse and Medical Neglect. Pediatrics in Review, 2020.PMID 32005682
- [8]Kozlowska K A stress-system model for functional neurological symptoms. Journal of the Neurological Sciences, 2017.PMID 29246603