Perplexing presentations and diagnostic uncertainty — formative SAQs

SAQ 1 (10 marks)

A six-year-old girl is referred to the general paediatric clinic by her general practitioner. Over three years she has seen fourteen specialists across three hospitals for episodic vomiting, limpness and low blood sugars. No episode has ever been reproduced during a ward admission. Her mother reports that the episodes are becoming more frequent and is requesting a feeding tube and a port for blood draws. The child's school attendance has fallen below 40% and she has lost touch with her friends. Her growth has fallen two centile spaces. On examination today the child looks well, is engaging and cooperative, and has no abnormal findings. [5] [1]

1. Define a perplexing presentation, state how it differs from fabricated or induced illness, and explain why the distinction matters for your immediate management. (3) [5]
2. Outline your structured assessment and investigation strategy, naming the three limbs of the differential you would hold in parallel. (4) [5] [6]
3. Describe how you would manage this child in the short term, including the role of the multidisciplinary team, the safety-net you would give the family, and the threshold for a child-protection referral. (3) [1] [7]

Model answer — SAQ 1

(1) Definition and distinction (3). A perplexing presentation, in the RCPCH framing, is a clinical situation in which a child's reported symptoms, signs or test results are not adequately explained by any recognised disease, but in which there is not yet objective evidence of harm or of falsification. It is deliberately a description of the child's circumstances, not a diagnosis, and not a label applied to a caregiver. Fabricated or induced illness (FII) describes the situation in which there is likely falsification or induction of illness that is causing, or risks causing, harm, and which is therefore a child-protection concern. The distinction matters because a perplexing presentation triggers structured assessment, support and safety-netting — not a child-protection referral — whereas FII triggers the safeguarding pathway. Jumping straight to an FII label without objective evidence of harm is one of the two cardinal errors of premature closure; equally, dismissing the picture as benign is the other. [5]

(2) Assessment and investigation (4). The first job is to gather and verify information rather than to generate new data: obtain the prior records from every centre and every specialist the child has attended, because discrepancies live in the historical record, and take a history from multiple informants including the child directly. Examine the child thoroughly and document findings factually, including any discrepancy between the reported state and the observed state. The three limbs I hold in parallel are: a genuine rare or complex organic disease (metabolic, endocrine, neurological); a medically unexplained or functional disorder; and a safeguarding concern. I investigate judiciously — every test linked to a named item on the differential, justified and time-limited. For the organic limb, given the multisystem and atypical picture, I would seek a single metabolic or genetics opinion rather than ordering a sequence of system-specific screens. I would not order a blanket screen, because that is how the investigation spiral begins. The Singh multisite survey found that the commonest process breakdown in paediatric diagnostic error is failure to gather information through history, examination and chart review — so comprehensive records review is the evidence-based first step. [5] [6]

(3) Short-term management (3). I would identify one named consultant to own the child's care, hold the records and coordinate a single shared plan — fragmentation across multiple teams and centres is the structural enabler of harm in this territory, and a single owner is the structural antidote. I would not agree to a feeding tube or a port for blood draws without a clear, named clinical indication, because the accumulating medical intervention may itself be the mechanism of harm. I would give the family an explicit safety-net: what to watch for, when to return, and a fixed review date — because uncertainty with a dated plan is the correct working state, while uncertainty without one is not. I would involve the multidisciplinary team — psychology, dietetics, school liaison, social work — and arrange separate observation of the child where clinically and ethically appropriate, since symptoms that resolve in the caregiver's absence fundamentally reshape the differential. I would make a child-protection referral when, and only when, I form a reasonable belief that the child has suffered or is at risk of significant harm; the trigger is a reasonable belief, not diagnostic certainty, and I would not confront the caregiver before the safeguarding plan is in place. [1] [7]

SAQ 2 (10 marks)

A fourteen-year-old boy presents with daily episodes of shaking and unresponsiveness that have been occurring for six months. He was initially investigated with a prolonged EEG, an MRI brain and a full metabolic screen — all normal — and was started on two antiepileptic drugs by a neurologist at another hospital, with no improvement and significant side effects. His mother has given up work to care for him. He has not attended school for four months. On direct questioning he describes full awareness during the episodes. His examination is normal. [3] [8]

1. What is the most likely diagnosis, and how is it distinguished from epileptic seizures? Outline the key features that support a positive diagnosis. (3) [8] [3]
2. Describe the management plan you would propose, including the role of medication, rehabilitation and the return-to-function strategy. (4) [3] [8]
3. Explain how you would convey the diagnosis and the plan to the boy and his mother, and how you would address the mother's concern that the team is "giving up on finding the real cause". (3) [5] [6]

Model answer — SAQ 2

(1) Diagnosis (3). The most likely diagnosis is non-epileptic attack disorder (functional seizures), a medically unexplained or functional neurological disorder. It is distinguished from epileptic seizures by preserved awareness during the episodes (which this boy describes), variable and asynchronous motor features, a gradual rather than abrupt onset and offset, absence of postictal confusion, closed eyes during the event, and a normal interictal and ictal EEG. The features supporting a positive diagnosis are the consistent functional pattern, the normal investigations across EEG, MRI and metabolic screening, the lack of response to antiepileptic drugs, the clear psychosocial precipitant of school absence and family disruption, and the fact that functional symptoms are real, experienced bodily symptoms — not feigned, and not organic in the conventional sense. The Kozlowska stress-system model explains how autonomic, HPA-axis and immune activation in a vulnerable individual produces real, disabling physical symptoms. A functional diagnosis is made by its positive pattern, not by exclusion. [8] [3]

(2) Management (4). The first step is to withdraw the antiepileptic drugs carefully and under supervision, because they are causing side effects without benefit and their continuation reinforces a disease framing that the functional diagnosis has displaced. The core treatment is coordinated rehabilitation: physiotherapy for any functional motor component, clinical psychology to address the precipitating stress and to teach regulation strategies, and an explicit, graded return-to-function plan covering school, friendships and daily activity. I would name a single consultant to coordinate the plan and hold the shared record, and I would convene the multidisciplinary team early — psychology, physiotherapy, school liaison, and the GP. I would hold the organic limb in mind, because functional and organic disease can coexist, but I would not re-investigate once the functional pattern is clear: further investigation "to be sure" is the commonest cause of iatrogenic harm in the functional limb. The diagnosis itself, when explained positively and credibly, is the first treatment — many children improve once they understand their symptoms are real, are not dangerous, and are treatable. [3] [8]

(3) Communication (3). I would convey the diagnosis honestly and positively: these are real seizures, they are happening because the nervous system is overloaded, they are not epilepsy, they are not dangerous, and they respond to rehabilitation — not to more tests or more drugs. I would acknowledge the mother's fear directly and avoid the language of "giving up": explaining that we have completed a careful workup, that the functional diagnosis is itself a diagnosis with a treatment, and that continuing to search for a rare organic cause would expose her son to the harm of further unnecessary investigation. The Glaser and Davis framework emphasises that uncertainty conveyed with a clear, dated, named plan is therapeutic, while uncertainty without a safety-net is not. I would set an explicit review date, give a safety-net for what would prompt reconsideration of the organic limb, and involve the mother as a partner in the rehabilitation plan. The Singh survey reminds us that failure to communicate findings and plans is a contributor to diagnostic error and harm, so I would document the conversation and the plan and share them with the GP and the neurology team. [5] [6]