Abstract
St Andrew’s day, Paediatric Symposium, Royal College of Physicians of Edinburgh 9 Queen street, Edinburgh, EH2 1JQ, Friday 22 November 2019
Organised in association with The Royal College of Paediatrics and Child Health The Royal College of Physicians of Edinburgh The Royal College of Physicians and Surgeons of Glasgow The Scottish Association of Community Child Health.
Abstracts for research and audit presentations
A longitudinal study of body composition in glucocorticoid treated boys with Duchenne muscular dystrophy
1School of Medicine, University of Glasgow
2Developmental Endocrinology Research Group, RHC, Glasgow
3Paediatric Neurosciences Research Group, RHC, Glasgow
4Department of Human Nutrition, University of Glasgow
Background
Obesity is frequently observed in boys with Duchenne Muscular Dystrophy (DMD), and this is exacerbated by long-term glucocorticoid (GC) therapy. The underlying condition is however associated with progressive muscle wasting. The use of body mass index (BMI) to assess body composition in children with chronic conditions like DMD is controversial since it does not distinguish lean and fat mass. To date, there is no longitudinal study assessing body composition in DMD with appropriate comparison with a group of healthy control.
Objectives
(a) To evaluate DXA based assessment of lean mass index (LMI; lean mass/height2), fat mass index (FMI; fat mass/height2) and trunk fat: total fat in DMD over 12 months.
(b) To investigate the utility of body mass index (BMI) for assessment of fat mass in DMD.
Results
At baseline, median age was 10.6 years (5.0, 16.8) with median duration of 5.8 years (0.2, 13.4) of glucocorticoid therapy. At baseline, height-SDS was −2.5 (−6.9, +0.32) and was significantly lower at follow-up (p < 0.0001). At baseline, BMI-SDS was +2.5 (−0.9, +3.9) [vs zero, p < 0.0001] and there was no significant difference at 12 months [p = 0.10]. At baseline, FMI-SDS was +2.8 (−0.2, +8.2)[vs zero, p < 0.0001] and
Conclusion
GC-treated DMD patients have high fat mass when adjusted for height compared to healthy controls with evidence of increased central adiposity. With follow-up, significant increase in fat mass and reduction in lean mass were observed which were not reflected by changes in BMI. However, a high BMI is indicative of high fat mass in these boys and can be used in clinic.
Interpretation of haemolysed bilrubin samples in jaundiced neonates
Princess Royal Maternity Hospital, Glasgow
Objective
Jaundice is common in the newborn and often involves repeated blood sampling. Results of haemolysed capillary samples are not routinely issued to the clinician, leading to re-sampling and further distress for babies and parents. We sought to ascertain the impact of haemolysed bilirubin samples, and to investigate if accessing these results could reduce repeat sampling.
Aim
To ascertain the frequency of haemolysed bilirubin samples, and whether access to the haemolysed result could be clinically useful.
Methods
Serum bilirubin levels were ascertained by Abbott Architect analysers, generally from capillary samples. When samples were declared haemolysed (haemolysis index (HI) >10 g/L) results were manually extracted from the analysers. Comparisons were made between haemolysed results and the next non-haemolysed sample. Results were plotted on NICE bilirubin charts and case notes reviewed to see if there would have been a difference in management had haemolysed results been used.
Results
Over a five week period 424 bilirubin results were requested, of which 25 (5.6%) were haemolysed. Six haemolysed samples could not be recovered and one patient’s notes were unavailable. Therefore 18 samples were able to be correlated with clinical practice. These 18 haemolysis “events” were from 12 different patients: 7 patients had 1 haemolysed sample, 4 had 2 and 1 had 3. The median gestation was 36 + 3 (range 29 + 5–40 + 3) with a median age of 3 days (range 0–9). At time of sampling 7 babies were receiving phototherapy and 4 were awaiting rebound bilirubin levels following cessation of phototherapy. Most patients were in postnatal wards.
Median HI was 14.2 g/L (range 10.9–74.6g/L); 57.9% were within 10.1–15 g/L. Haemolysis caused a generally modest negative interference on total bilirubin, median change −11.3% (range −51.5–+4.9%) and a positive interference on conjugated bilirubin, median change +12.3% (range −31.1–+2164%). Retrospectively plotting haemolysed results, 16 (88.9%) had the same outcome as the non-haemolysed result. The two haemolysed results which would have resulted in different management were sufficiently unexpected to have alerted the clinician to the need for repeat sampling.
Conclusions
We propose that if 12% added to a haemolysed bilirubin value does not affect management, and the value is not unexpected, there is no need to repeat blood sampling immediately. A raised conjugated fraction cannot be assumed to be true, and needs repeated. Access to haemolysed bilirubin values has potential to initiate (or not) treatment promptly and safely, helping to avoid repeat sampling and prevent delays in the treatment of neonatal jaundice.
Antibiotic resistance – running out of choices
1Department of Paediatrics, University Hospital Crosshouse
2Department of Microbiology, University Hospital Crosshouse
Background
Antimicrobial resistance is increasing worldwide. This is particularly evident in urinary tract infections (UTIs) where many pathogens are now non-susceptible to commonly used antibiotics. Antimicrobial stewardship involves “implementing local antimicrobial guidance in line with national guidance and informed by local prescribing and resistance patterns. In our district general hospital, paediatric antibiotic choice is largely guided by advice from our tertiary referral centre which recommends co-amoxiclav as the first line oral agent for UTIs.
Aims
To collect local resistance data and audit the management of urinary tract infections in a district general hospital, and to create local antimicrobial guidance and a patient care pathway for the management of urinary tract infections.
Method
An electronic clinical record system was used to identify all Gram-negative urinary isolates from paediatric patients at University Hospital Crosshouse between January and September 2018. Patient records were obtained for isolates resistant to any of the commonly used first-line antibiotics. Data collected included empirical antibiotic choice, time taken to review urine culture results and documentation and communication of results. Empirical antibiotic use was compared to the tertiary centre guidelines.
Results
130 urinary pathogens were cultured of which 98 were Gram-negative. The Gram-negative isolates had a resistance rate of 30% to trimethoprim, 38% to co-amoxiclav and 6% to cefotaxime. 58% (53/91) of the E. coli pathogens were non-susceptible to one of trimethoprim, co-amoxiclav or cefotaxime. This correlated to 51 patient episodes. Full records for review were available in 80% of cases (41/51). Of the patients treated with empirical antibiotics only 45% were treated as per tertiary centre guidance. Median number of days to review a result was 3 days (range 2–32). In 5 (12%) episodes there was no documentation that urine culture results had been reviewed at all. Antibiotic prophylaxis was prescribed in 43% (6/14) of patients aged under 1 year.
Conclusions
The high level of resistance to commonly used empirical antibiotics, poor adherence to tertiary centre guidelines and inconsistent documentation indicate the need for local guidance. Where there are high levels of resistance, rapid review of urine culture results is required with clear guidance and pathways to achieve this, which had not been present in our centre. Practices which contribute to antibiotic resistance such as widespread prophylaxis also require to be addressed.
Prevalence and pattern of prenatal alcohol exposure determined by alcohol biomarkers in newborn blood spot screening cards
PICU, Royal Hospital for Children, Glasgow
Fetal alcohol spectrum disorder (FASD) is the commonest preventable cause of neurodisability but is under-diagnosed. Earlier diagnosis helps prevent secondary effects of FASD, resulting in better educational attainment, less interface with judicial services and earlier recognition of other healthcare issues. Maternal self-report of prenatal alcohol exposure (PAE) is negligible despite approximately 1 in 7 women in Scotland drinking alcohol in pregnancy, as determined by alcohol biomarkers in meconium (Abernethy et al) Phosphatidylethanol (PEth), a direct metabolite of ethanol can be measured from newborn dried blood spot cards. In adults, PEth is 100% specific for alcohol exposure and has been shown to be positive in blood samples for up to 12 days after a single drink. Blood spots cards are collected from almost all infants in the UK on the fifth day; as these cards are routinely stored it might be possible to carry out retrospective testing when FASD is suspected.
Objective
To investigate the potential utility of newborn blood spot cards for the detection of PAE to determine prevalence.
Methods
840 mother and infant dyads were recruited over an 11-month period to provide infant meconium and blood spot samples. The latter were collected coincident with routine newborn screening, onto a second card when the original heel prick bleeding allowed. Mothers completed a confidential health questionnaire after delivery and maternal and infant demographics were collected. Samples were frozen and analysed at the University of Padova. REC approval was given for the study, and all mother gave written informed consent.
Results
Additional dried blood spot cards were collected from 510 infants, of which 502 (98.5%) were analysable for PEth. 216 (43.0%) samples were positive for PEth and in 148 (29.5%) the concentration was >20 ng/ml, indicative in adults of significant alcohol exposure. In the entire recruited cohort, 13.8% of mothers admitted to alcohol consumption beyond 20 weeks of pregnancy, 14.5% of meconium samples were positive for ethylglucuronide and 39.6% positive for fatty acid esters.
Conclusions
Analysis of newborn blood screening cards for PEth is feasible. There is a need for further data correlating PEth values in the newborn with other biomarkers and cut off values as used for adults may overestimate PAE.
Prospective trial of nabilone for gastrointestinal dystonia. A single centre case series
Royal Hospital for Children, Glasgow
Background
In children with severe neurodisabling conditions the clinical constellation of pain behaviour, retching, bloating, abdominal distension and constipation/pseudo-obstruction can be referred to as gastrointestinal dystonia (GID).The evidence base for effective therapies are very limited and symptoms can remain disabling even after post-pyloric (jejunal) feeding. Nabilone is a synthetic analogue of the active component tetrahydrocannabinol (THC) found in medicinal cannabis. It has a licence in paediatrics for the treatment of severe chemotherapy induced nausea. Since medical cannabis has also been implicated in the treatment of pain, spasticity, gastrointestinal upset and for appetite stimulation, it has been hypothesised as a potential agent to treat GID. To date there is no published work reporting Nabilone for this indication.
Aims
To quantitatively assess the effect of Nabilone on patients with severe and disabling GID, sing validated Quality of Life measures.
Methods
Patients with global neurodisability and ongoing symptoms of GID despite adequate trials of standard antacids, antiemetics, laxatives, jejunal feeding and blended diet were reviewed at a multidisciplinary complex feeding clinic. This included input from a neurodisability consultant, gastroenterologists and paediatric surgeons. All members of MDT were in agreement that trial of Nabilone treatment was merited. A treatment protocol for administration was devised. Nabilone was incremented in 250ug doses to a dosage 500ug twice daily for patients <18kg and 500ug three times daily for those 18–27kg. Parents completed the age appropriate Quality of Life Questionnaire (PedsQL version 3.0, GI specific questions) and a sleep diary prior to treatment and again one month after stable dose. Differences in Peds QL sub-scores before and after treatment were analysed using a paired test.
Results
Three patients were treated (all male, aged 2 to 4–9 years, weight 10.5-18kg). In all three patients, parents and clinicians perceptions were that treatment had improved symptoms. 3/3 had an increase in their Peds QL scores post treatment. The most significant increases in median scores were in the domains ‘stomach discomfort when feeding’ (5 to 85 (p < 0.006)) and ‘nausea and vomiting’ (6.25 to 56.25 (P = 0.02)). One patient had sleep disturbance before treatment this improved on treatment.
Conclusion
Despite the limitations of this small group of patients in an open observational setting, Nabilone was well tolerated and showed promise in treating GID. In particular symptoms of nausea and retching improved. The authors advocate assessment of GID in a wide MDT setting, with input from Gastroenterology, Surgery and Neurodisability. Objective tools have limitations in capturing efficacy of interventions for GID due to diffuse and complex symptoms.
Feeding behaviours in healthy UK children aged 6–24 months: development of the international complementary feeding evaluation tool (ICFET)
University of Glasgow
Department of Human Nutrition, Glasgow Royal Infirmary
Introduction
Child and parental feeding behaviours that develop during the weaning process may be important determinants of child growth and development. As yet there is no standardised validated tool for the measurement of food refusal and undereating in infants and toddlers.
Aims
This study assesses the use of the International Complementary Feeding Evaluation Tool (ICFET) as a self-completion questionnaire for parents of infants and toddlers. It aims to evaluate the internal consistency of scales measuring feeding behaviour, use these to develop a scoring system for feeding behaviours in this age group and explore how they vary with age and size of the child. This normative data will form the basis for reference use in future clinical practice.
Methods
This was a cross-sectional observational study in children aged 6–24 months. Parents and their children were recruited through mother and toddler groups in Glasgow. Feeding behaviours (avidity (enthusiasm for food), aversion, parental anxiety and response to food refusal), as well as meal frequency and dietary intake were assessed by parental report using the ICFET. Anthropometrical parameters (weight, length and body mass index (BMI)) were also measured.
Results
Data for 97 children (and 96 parents) were collected from visits to 14 Glasgow mother and toddler groups. Median (IQR) meal frequency of plated foods was 3 (2-3) times per day and 2 (2-4) and 4 (3-5) times per day for finger foods in children aged 6–8 and 9–24 months respectively. These frequencies met or exceeded recommendations by the World Health Organisation. Items within the sub-scales for avidity, aversion and parental anxiety were mainly well intercorrelated, as were the force-feeding variables, although rare. The scales were used to develop continuous scores for 6–12 month and 13–24 month old children. There were significant differences between the two age groups in mean avidity and aversion scores (p = 0.015 for both). Anxiety and force-feeding scores did not differ significantly between age groups. Only the parental anxiety score significantly correlated with BMI Z-score (r=-0.244, p = 0.026). Dietary diversity was high, with most food types fed on a daily basis. This was comparable to the results of the Scottish Maternal and Infant Nutrition Survey.
Conclusions
The ICFET provides a useful picture of eating and feeding in children who are undergoing the weaning process. Scoring systems for avidity, aversion, parental anxiety and force-feeding have been developed and used to create normative data for a healthy Glasgow population.
Abstracts for clinical case presentations
An unusual cause for reduced consciousness and vomiting
NHS Lothian
A 10 year-old boy was brought to hospital by ambulance with vomiting and reduced consciousness. He was reported to have had toothache for the past two weeks and his dentist had advised rinsing with cold water for the pain, so he had been drinking large volumes. His past medical history included anxiety and obsessive-compulsive disorder, with some autistic features. On arrival to the emergency department he had a fluctuating consciousness level, GCS 7–14, and he was bradycardic. Blood gas analysis revealed a serum sodium level of 126 and potassium level of 3.1, with a blood glucose of 8.5. A CT head scan showed signs consistent with early raised intracranial pressure, and possibly subdural haemorrhage.
The differential diagnosis at this point was wide and included infection, toxin ingestion, an Addisonian crisis or dilutional hyponatraemia. The patient was treated with IV cefotaxime, aciclovir and dexamethasone and was admitted to HDU for close monitoring and fluid management.
Over the first night he was very unsettled. He had a large diuresis and IV fluids were adjusted to achieve a slow rise in his serum sodium. On laboratory blood testing his white cell count was slightly raised at 16.1 with a neutrophilia, while his CRP level was <1. His serum sodium was 123, with a potassium level of 2.6, and a low plasma osmolality. Urine samples showed a low urine sodium.
The patient was managed with input from the acute medical, high-dependency, endocrine, neurology and ophthalmology teams. Further investigation included a lumbar puncture, MRI head scan and short synacthen test. He made good clinical progress over the following days and his electrolytes normalised. All culture results were negative, imaging was unremarkable, and endocrine tests revealed no underlying abnormality. The final diagnosis was dilutional hyponatraemia due to excessive water intake as a consequence of his toothache.
The learning points from this case are how to approach the child with a reduced consciousness level and electrolyte derangement, the differential diagnoses, and how these should be investigated both at presentation and in the coming days. An additional consideration is how we communicate health advice to children with obsessive-compulsive or autistic features, since this boy seems to have translated his dentist’s advice regarding cold water into an extreme behaviour that resulted in him becoming seriously unwell.
Bilateral extensive deep vein thrombosis in a child
Forth Valley Royal Hospital
Objective
To describe an unusual presentation of extensive bilateral deep vein thrombosis (DVTs) in a previously well child, and to highlight the importance of considering this rare diagnosis in children. We believe paediatric clinicians currently have a low index of suspicion of this condition and that, through discussion at this year’s Scottish Paediatric Society Symposium, this index of suspicion can be increased.
Results
The child’s D-Dimer was raised and a Doppler ultrasound confirmed bilateral extensive DVTs. A subsequent MRI showed extensive bilateral DVTs extending into the infrarenal inferior vena cava to confluence with the renal veins with blood shunting via the lumbar vessels. The child was started on enoxaparin and TED stockings and is under fortnightly monitoring for anti Xa levels. The child’s anti Xa levels are now within therapeutic range and Protein C genetics are currently outstanding.
Discussion
DVTs are rare in children with a prevalence of 0.7–4.9/100,000 children per year. This number is increasing as more children are surviving previously fatal conditions. This case highlights that, although rare, DVTs must be considered in children who present with leg pain. Specific discussion around this case focuses on the importance of revisiting the examination and initial diagnosis given that the working diagnosis changed significantly throughout the child’s admission. The majority of guidance on diagnosis and management is extrapolated from adult data. This further complicates a diagnosis that is already low on the clinician’s differential.
It’s not all in your head
University Hospital Crosshouse
Rainbow House Child and Adolescent Mental Health Service University of Glasgow
We describe Chronic Paroxysmal Hemicrania (CPH), part of the Trigeminal Autonomic Cephalalgias (TAC’s), in the context of Severe Learning Disability, Autism, Bipolar Disorder and Catatonia.
A child diagnosed with disintegrative psychosis aged 3, and revised to autism with Bipolar Disorder, had been on Carbamazepine with Risperidone with poor mood control. Withdrawal of Risperidone produced tardive oro-motor dyskinesia responsive to Clonidine. Aged 11, when mood improved on Aripiprazole, Carbamazepine was withdrawn. He then presented with episodes of distress preceded by withdrawal, unilateral, but not side-locked, facial flushing. There was also additional flushing of neck, back and wrists. Behaviours included hitting wrists off walls, chewing of hard objects and requesting pressure to his head. Episodes occurred 8 – 9 times a day, lasting 2 – 60 minutes. He showed rhinorrhoea and tearing, attributed to crying, during events. The attacks self-terminated.
Imaging and EEGs were normal. Pharmacological trials included Paracetamol and Diclofenac (the latter helping somewhat). Amitriptyline, Gabapentin, and Oxcarbazepine made his mood worse or did not help. Morphine reduced the incidence of attacks. Re-introduction of Carbamazepine resulted in improvement at 30 mg/kg/day but did not eliminate pain. Sequencing of SCN9a was normal. A plan to wean Morphine alongside a trial of Indomethacin, initially at 25 mg twice daily was successful after increasing the dose to 50 mg twice daily. Episodes ceased, including all autonomic features. Exacerbation at 4 weeks occurred in context of an intercurrent illness and was managed with an additional dose of Indomethacin.
CPH is underreported in the paediatric age group. In our case of facial and jaw pain, our patient’s inability to describe events, and an additional psychiatric diagnosis added complexity. The possibility of pain as a cause for early psychotic breakdown in a developmentally vulnerable child cannot be excluded. Criteria emphasising side-locked headache or facial pain and autonomic features, and not recognising features occurring more widely may also delay recognition in children.
An unusual cause of encephalopathy
Royal Hospital for Sick Children, Edinburgh
The aetiology of encephalopathy is varied and often a diagnosis can be difficult to reach. This case outlines the presenting features of one cause of encephalopathy to be considered as part of a differential diagnosis.
A 13 year old girl presented with sudden loss of consciousness, seizures, confusion and disorientation. Initial investigations included screening for infection and a CT head. Seizures were managed with IV diazepam and she required intubation and ventilation for low GCS. She was commenced on intravenous antibiotics and aciclovir. After sedation was stopped she had a persisting abnormal behaviour. MRI head was normal and laboratory investigations on blood and CSF did not suggest an infective cause. Incidentally she was found to have a diffuse neck swelling which was thought to represent thyroid goitre on MRI scan. Her thyroid function showed mild primary hypothyroidism and anti-TPO antibodies were later found to be positive.
Management for Steroid responsive encephalopathy with associated autoimmune thyroiditis (SREAT) was pursued and she responded well to intravenous steroids.
SREAT is an autoimmune encephalopathy with unknown pathogenesis. Common clinical features in paediatrics include encephalopathy, behavioural disturbance, cognitive dysfunction and seizures. It is rare in paediatrics but perhaps under diagnosed. Females are most commonly affected with a median age of onset in childhood cases of 12–14 years. Investigations will reveal a normal or non-specific MRI brain, normal or generalised slowing of EEG, raised CSF protein and no indication of infection. Raised anti-TPO antibodies are found in the serum but titres do not correlate with severity of disease.
A diagnosis can be made in the presence of neurologic and/or psychiatric dysfunction with abnormally elevated thyroid antibodies. There should be an absence of other identifiable causes of encephalopathy by laboratory and neuroimaging investigations and good corticosteroid responsiveness. The majority of patients are euthyroid and can have normal thyroid function tests. Management of SREAT includes high dose intravenous corticosteroids followed by a weaning course of oral prednisolone over several weeks. Patients can relapse requiring further steroid courses and consideration should be given to other immune modulating drugs such as methotrexate, cyclosporin or azathioprine. Plasmaphoresis and immunoglobulin have also been shown to be effective. Treatment of thyroid dysfunction alone has not been shown to be of benefit.
The list of differential diagnoses in the child with encephalopathy is long. SREAT should be considered for any encephalopathic child who does not have any identifiable cause on first line testing.
‘Sleeping beauty syndrome’: an adolescent diagnostic dilemma
Royal Hospital for Sick Children, Edinburgh
Background
Kleine-Levin syndrome (KLS), also known as ‘Sleeping Beauty syndrome’, is a rare disorder with estimated prevalence 1–2/million. It is a clinical diagnosis of exclusion, defined by intermittent episodes of hypersomnia, at times accompanied by cognitive/behavioural abnormalities, hyperphagia and hypersexuality.
Case
A normally well 14-year-old girl presented with four days of acute confusion, visual hallucinations and lethargy. Baseline observations and physical examination were normal. She underwent multiple investigations which excluded infection, metabolic, endocrine and autoimmune pathology. Cranial imaging and EEG were normal. Antibiotics and antivirals were administered until cultures/PCR were negative. Specialty consults with neurology and mental health were sought and excluded primary neurological and psychiatric disorders.
Symptoms persisted for five days before resolving rapidly, and the patient was discharged with follow-up. She remained well for three weeks. Since initial presentation she has had four further episodes of hypersomnolence and behavioural changes, lasting 8–9 days each with symptom-free intervals between, each occurring prior to menstruation.
Multidisciplinary advice was sought, and a diagnosis of KLS proposed. Further investigation and assessment is ongoing with sleep specialists, CAMHS and paediatrics. She is on a trial of oral contraceptive pill in an attempt to ameliorate any hormonal influence.
Discussion
KLS has typical onset in adolescence, with males four times more likely to be affected than females. The disease typically lasts longer in females and those with less frequent episodes in the first year of presentation.
The aetiology is unknown; it can be precipitated by infections and head trauma. There is currently no confirmed efficacious treatment, although antidepressants and mood stabilisers may be used. Prognosis is uncertain, but case reports suggest that symptoms wane in severity with time, with spontaneous resolution more likely in those with adolescent onset.
Diagnosis of KLS can take months, as symptoms are non-specific and episodic. Patients present to multiple specialties and may be misdiagnosed with functional/bipolar/psychotic disorders.
Our case highlights diagnostic difficulty in cases of confusion/behavioural change. Significant challenges exist around differentiation between organic, functional and psychiatric disorders, particularly at first presentation. Common investigations can rule out many diagnoses, but it is essential to keep an open mind when cases don’t fit into a neat diagnostic category.
The early diagnosis reached here has potentially saved the patient and family the trauma of being mislabelled with a psychiatric/functional disorder. Appropriate support from medical, social and educational perspectives can now be offered to optimise development, functioning and future prospects.
Weight loss in an overweight child – more than meets the eye
Forth Valley Royal Hospital
Objective
To describe an atypical presentation of autoimmune hepatitis in an overweight boy. This patient initially presented with persistent cough, though was found significant unexplained weight loss, without crossing centile lines.
Case report
The patient described is a 12 year old boy, who presented to clinic with nocturnal cough. During the appointment it was established he had a 6 kilogram (kg) weight loss over a period of several months. He described an intermittent history of diarrhoea, constipation, and abdominal pain. This had resolved at the time of the clinic appointment, and with a soft non tender abdomen, and no organomegaly, was not investigated further.
The patient subsequently presented to the ward three months later with a lower respiratory tract infection, in the context of ongoing abdominal symptoms, and weight loss now totalling 10 kg over 6 months. Despite this weight loss, he remained in the 91st to 98th centile for his age. On examination he had scattered wheeze and a 1 cm palpable liver. A Chest X-Ray showed left basal inflammatory changes, and a throat swab was positive for Group A Streptococcus, for which he was treated with courses of Clarithromycin and co-amoxiclav. Bloods taken on this admission showed a transaminitis. Consequentially, he had an abdominal ultrasound, which showed hepatosplenomegaly, with a slightly fatty appearance of the liver. He had an extensive liver screen during this admission, and was discharged pending outpatient follow up.
The patient has since been seen in clinic, and parental concern about weight loss remained in spite of a healthy appetite and varied diet. He had 2 cm hepatomegaly and transaminases remain grossly deranged. He described easy bruising, though had an unremarkable coagulation screen. A faecal Calprotectin obtained at this appointment was raised at >750, and Anti-Nuclear Factor was positive at a titre of 1/640 in keeping with autoimmune hepatitis with superimposed inflammatory bowel disease. Since this appointment he has been seen by a tertiary gastroenterology team, and awaits colonoscopy and a liver biopsy for definitive diagnosis.
Discussion
This case raises the importance of investigating significant weight loss in a larger patient, even in the absence of crossing centiles. Furthermore, this case highlights the importance of detailed history taking in a patient presenting with a cluster of symptoms. Finally, we believe this highlights the importance of recognising increasing parental concern, particularly in the absence of a clinical diagnosis.