Abstract
Abstracts for Research and Audit Presentations
St Andrew’s Day Paediatric Symposium: Royal College of Physicians and Surgeons of Glasgow, 232–242 St Vincent Street, Glasgow G2 5RJ, Friday, 25 November 2016
Royal College of Physicians and Surgeons of Glasgow, Glasgow, UK
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Caffeine for apnea during prostaglandin infusion
Neonatal Unit, Royal Hospital for Children, UK
Affiliation: NHS Greater Glasgow and Clyde, NHS Grampian
Abstract
Background
The use of PGE1 (prostaglandin E1) infusion in duct-dependent congenital heart disease (CHD) has been associated with side effects like apnea. The apneas can be recurrent/severe, warranting intubation. Infants transported from peripheral centers with CHD are commenced on PGE1 infusion and many of them are intubated prophylactically. Until now, there is no intervention that has been studied for the prevention of PGE1-induced apnea.
Objective
Our study objective was to identify whether the administration of caffeine reduced the number and/or severity of apnea in infants receiving PGE1 infusion.
Population
We included all infants with duct-dependent CHD with a gestational age of ≥34 weeks and on both prostaglandin and caffeine treatment. Those infants who were intubated electively or perioperatively or had central nervous system pathologies were not included in the analysis.
Methods
We conducted a retrospective cohort study (January 2010 to December 2015) in a regional referral tertiary level Neonatal intensive care. Using Heart-suite (local Pediatric cardiology database) and Neonatal Badger (National neonatal database), we identified all potential subjects.
Results
We identified 316 infants with a diagnosis of duct-dependent CHD. Transposition of the great arteries was the commonest diagnosis. Nineteen infants were identified as being on PGE1 and caffeine. Two were excluded due to prematurity and five due to incomplete data. Only 12 infants were available for analysis. Among these, six were ventilated, and therefore excluded from analysis. The remaining six infants had multiple apneas on the day prior to starting caffeine, but had significant reduction in any apneas and apneas requiring stimulation/suction 24 h after receiving the loading dose of caffeine. This effect on apnea persisted up to three days after initiation of caffeine.
A prospective whole Scottish population study of genetic and immune causes of epilepsy and complex febrile seizures in children under three years of age: the Genetic and Autoimmune Childhood Epilepsy (GACE) Study
1Paediatric Neurosciences Research Group, Royal Hospital for Children, UK
2School of Medicine, University of Glasgow, UK
3Nuffield Department of Clinical Neurosciences, University of Oxford, UK
4West of Scotland Regional Genetics Service, Glasgow, UK
5Paediatric Neurosciences, Royal Hospital for Sick Children, UK
6Department of Paediatric Neurology, Tayside Children’s Hospital, UK
Affiliation: Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Children, Glasgow
Abstract
Objectives
The Scottish Genetic and Autoimmune Childhood Epilepsy (GACE) study takes a prospective population-based approach for the investigation of new onset epilepsy and complex febrile seizures, allowing us to estimate the degree to which genetic and autoimmune aetiologies contribute. We expect to recruit >300 cases over three years (2014–2017).
Population
All children under three years of age in Scotland presenting with new-onset epilepsy or complex febrile convulsions.
Method
Patients are recruited from all 21 centres seeing children with febrile or afebrile seizures in the Scottish National Health Service. We use multiple sources to identify cases. Inclusion criteria are as follows: any child under the age of 3 years (<3 y) with newly diagnosed epilepsy; any child <3 y presenting with febrile or afebrile status epilepticus (seizure >10 min); any child <3y presenting with ≥2 febrile or afebrile seizures within a 24-h period; any chills with recurrent (2 or more) prolonged (10 min or longer) febrile seizures; any child with neonatal seizures continuing beyond day 28 of life. Exclusion criterions are as follows: structural/metabolic aetiology already established. Consent is taken for genetic testing (104 gene epilepsy panel), autoimmune testing (10 autoantibodies), and clinical follow-up. Data are stored on a national web-based clinical system.
Results
We present preliminary results. As of September 2016, we have recruited 216 patients, of whom 154 (71%) had been given a diagnosis of epilepsy by the time of recruitment. The incidence of epilepsy <3 y (without an established structural/metabolic cause) in Scotland is 1 in 788 live births. So far, 20% of those cases tested have a positive genetic aetiology and 7% have antibody positivity for pathologically relevant epitopes. The most frequently occurring genetic aetiology is SCN1A mutation (seven cases). All SCN1A-positive cases had suspected Dravet syndrome at recruitment. The incidence of SCN1A-positive Dravet syndrome in this population is 1 in 17,300 live births.
Conclusions
Positive genetic and autoantibody test results occur in a significant proportion of children <3 y presenting with new onset epilepsy and complex febrile seizures. Prospective follow-up of this cohort will reveal the extent to which aetiology correlates with prognosis and guides management.
Clinical epidemiology of non-epidemic adenovirus respiratory infection in a paediatric population
RHSC Edinburgh, Department of Virology, NHS Lothian University of Edinburgh, UK
Abstract
Background
Epidemiological data on long-term respiratory disease associated with adenovirus infection focus on severe outbreaks of epidemic strains. We wished to understand the range of respiratory disease caused by Adenovirus associated with endemic infection. This knowledge may help to identify those at risk of longer term respiratory ill health, with a focus on Bronchiolitis Obliterans.
Aim
The aim of this study was to determine the epidemiology and clinical outcomes of non-epidemic adenovirus respiratory mono-infection and also co-infection with Respiratory Syncytial Virus (RSV) in the paediatric population.
Methods
A 111-month retrospective analysis from 2005 until 2014 was performed to evaluate the epidemiology of PCR-identified infection in 1576 patients under 16 years old. PCR identifies all Adenvirus serotypes. Longer term outcomes of infected children under the age of 2 years (n = 393), diagnosed at RHSC Edinburgh, were established. Finally, a randomly selected cohort of patients co-infected with adenovirus and RSV were compared with the long-term outcomes of mono-infection.
Results
Adenovirus is more prevalent in males (57%, n = 894) and was most commonly identified in patients less than 2 years (72.59%, n = 1144). The highest level of care required by children with Adenovirus mono-infection was the emergency department (37.4%, n = 147), children’s medical ward (57.51%, n = 226), or high dependency/intensive care (5.09%, n = 20). In children less than two years with Adenovirus mono-infection, requiring admission to hospital (62.59%, n = 246), medical admission length was 2 days (IQR = 2 days, mean = 2.82 days). Supplemental Oxygen was required by 24.39% (n + 60) of children admitted to hospital, and 58.52% (N = 230) of children admitted to hospital with Adenovirus mono-infection re-attended hospital with respiratory symptoms in the future; 19.08%, n = 75 of admitted children had follow-up in a medical out-patients clinic for a respiratory cause. Readmission and follow-up were seen more frequently in children with the following characteristics: longer admission length, a requirements for oxygen or ventilation and the need for ward or intensive care admission. Co-infection with adenovirus and RSV resulted in significantly higher admission lengths (p < 0.0001) and oxygen requirements (p < 0.0005).
Conclusions
Adenovirus is a significant respiratory pathogen in children under two years, associated with longer term morbidity. Children with more severe disease have increased later morbidity and future research will consider the risk of longer term effects on respiratory health.
Childhood narcolepsy – presentation, investigation, therapy and outcomes
1School of Medicine, University of Glasgow, UK
2Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Children (RHC), UK
Abstract
Objectives
To review the changing demographics, investigations and therapies in childhood narcolepsy over a 20-year period.
Population
The study cohort consisted of 40 children diagnosed with narcolepsy in Glasgow between 1996 and 2016, representing the majority of cases of childhood narcolepsy in Scotland in this period.
Method
This was a retrospective case note review in which data were collected on general patient demographics, symptoms at onset, symptom progression over time, diagnostic assessment, evidence of H1N1 infection or vaccination prior to development of narcolepsy, and the efficacies and side effects of drug therapies.
Results
The median age of symptom onset was eight years. Excluding four children symptomatic from birth, 55.6% were diagnosed within 12 months of symptom onset. An increasing annual number of diagnoses was noted – two children were diagnosed between 1996 and 2000, five in 2001 and 2005, nine in 2006 and 2010, 21 in 2011 and 2015, and three thus far in 2016. All children reported excessive daytime sleepiness. Prior to diagnosis, 67.5% had cataplexy, increasing to 90% thereafter. Of 38 children followed up, disturbed night-time sleep (92.1%), hypnagogic/hypnopompic hallucinations (92.1%) and sleep paralysis (47.4%) were common. Psychological and behavioural comorbidities were prevalent in the cohort (87.5%). Recent data from 35 patients revealed 60% were overweight/obese, whilst 27 of 39 children (69.2%) reported weight gain or increased appetite. CSF hypocretin-1 results indicative of narcolepsy (<110 pg/ml) were reported in 14/15 (93.3%). All 29 of the children with documented HLA-typing were HLA-DQB1*0602 positive. Multiple sleep latency testing was diagnostic of narcolepsy in 28/33 (84.9%). Polysomnography was normal in 33/35 (94.3%), with two children exhibiting sleep apnoea. Routine blood tests revealed anaemia in 5/37 (13.5%). EEG and brain imaging were invariably normal. The following subjective drug efficacy rates were reported – sodium oxybate (81.8%, 9/11), dexamphetamine sulphate (76.9%, 10/13), modafinil (36.8%, 14/38), methylphenidate hydrochloride (30.8%, 8/26). Scheduled napping was beneficial in 100% (29/29).
Conclusions
The number of patients diagnosed with childhood narcolepsy in Glasgow has increased in recent years. However, there was insufficient data to conclude if there was a significant link between H1N1 vaccination and the development of childhood narcolepsy, as has previously been suggested. Psychological difficulties and weight gain are notable comorbidities of narcolepsy. The sensitivities of diagnostic tests and efficacies of therapies are highly variable. A personalised, multidisciplinary approach is important to maximise long-term outcomes.
Acknowledgments
EEG Department and Sleep Laboratory Service at the RHC, Glasgow.
Radiologically confirmed fractures in a Scottish Nationwide cohort of boys with Duchenne muscular dystrophy
1Developmental Endocrinology Research Group, Department of Paediatric Endocrinology, The Royal Hospital for Children Glasgow/The University of Glasgow, UK
2Paediatric Neurosciences Research Group, Department of Paediatric Neurology, Royal Hospital for Children Glasgow, UK
3Scottish Muscle Network, Queen Elizabeth University Hospital West of Scotland Genetic Services, UK
4Department of Paediatrics, Forth Valley Royal Hospital, UK
5Department of Paediatric Neurology, Royal Hospital for Sick Children, UK
6Department of Paediatrics, Crosshouse Hospital, UK
7Department of Paediatrics, Raigmore Hospital, UK
8Department of Paediatrics, Ninewells Hospital/Armistead Child Development Centre, UK
9Department of Paediatrics, Royal Aberdeen Children's Hospital, UK
Abstract
Background
Published studies of radiologically confirmed fractures in sufficiently large cohorts of boys with Duchenne muscular dystrophy (DMD) are limited.
Objective/population
To determine the incidence of fractures in a contemporary cohort of 91 boys with DMD managed in all Scottish centres.
Method
Radiologically confirmed fractures were classified into vertebral fracture (VF) and non-VF in a retrospective audit of all boys currently managed in Scotland. The probability of fractures was determined by Kaplan–Meier plot.
Results
At last assessment at a median age of 11.2 years (range, 2.3,18.9), 45/91(50%) were non-ambulant. Of 91, 51(56%) were on glucocorticoid (GC) at last assessment, 11/91(21%) were GC naïve, 23/91 (25%) were previously treated with GC and in 6(7%), this information was unavailable. By last assessment, 43 boys (47%) had sustained fractures. On Kaplan–Meier analysis, 50% of the cohort had sustained a fracture by the age of 10.2 years and 75% had sustained a fracture by 12.8 years. Non-VF occurred in 36/91 (40%). Seven (8%) of those boys who sustained non-VF were GC-naïve, median age of 3.5 years (2.0, 10.1). Symptomatic VFs were reported in 8/91(9%). In those who were started on GC, there was a period of 2.3 years before the first symptomatic VF was diagnosed and 50% had sustained VF by 8 years after start of GC (95%CI: 6.3, 9.6). Multivariate analysis including boys currently and previously treated with GC showed that no single clinical factor (age at starting GC, duration GC, age lost ambulation) was associated with fractures.
Conclusion
In this study of a contemporary nationwide cohort of boys with DMD, it is clear that radiologically-confirmed non-VFs can occur irrespective of GC therapy, whereas there is a latency period of two years before the detection of the first symptomatic VF. An effective bone protection is urgently required. International collaborative studies on long-term fracture outcome, and well-designed trials of protective bone therapies in DMD boys are needed. The outcome measures for such bone-targeted therapy should be based on fracture reduction rather the indirect bone densitometric measurements alone. The data gleaned from this large national cohort will inform the design of future interventional studies of bone protective therapy powered on fracture reduction.
Clinical profile of Mycoplasma pneumoniae infection and its treatment in children
1Wolfson Medical School Building, University of Glasgow, UK
2Royal Hospital for Children, Glasgow, UK
Abstract
Objective
To produce a clinical profile of Mycoplasma pneumoniae infection (MPI) in children and adolescents.
Population
A total of 88 children and adolescents (<16 years) with MPI were included in analysis (43 males, 45 females), with 51% aged <5 years.
Methods
The West of Scotland Regional Virus Laboratory provided a list of 120 samples that tested positive for M. pneumoniae between 21 August 2015 and 30 March 2016 from a total of 4430 samples. Clinical details were examined in Portal.
Results
The most common symptoms were cough (89.8%) and fever (77.3%), coryza or sore throat (67%), and reduced appetite (63.6%). 59.3% of patients had concurrent viral or bacterial respiratory infections on PCR. 63.6% of patients suffered from two or more of vomiting, pain, reduced appetite and lethargy. Rash was also common (36.4%). Wheeze was present in 50% of patients, and crepitations in 62.5%. Children aged <5 made up 61.4% of patients with concurrent infections and experienced more signs and symptoms except pain and rash. 75.6% of children aged <5 had oxygen saturations <96% versus 57.1% of children aged ≥5, and more therefore required treatment with oxygen (60% vs. 30.2%). In line with empirical prescribing policies, more children aged ≥5 received Macrolide antibiotics (65.1%) than those aged <5 (48.9%). Two cases of Stevens-Johnson Syndrome had “strong” PCR results, but the weak/strong split had no other clinical significance. 53.5% of patients aged ≥5 were treated empirically with Macrolides as the empirical prescribing policy suggests for lower respiratory tract infections in this patient group. 41% were referred to hospital by a GP following several ineffective courses of antibiotics, most commonly oral Amoxicillin (42%). Only 5 children received Macrolides from their GP. 43.2% were not prescribed Macrolides, and 31.8% were not treated with Macrolides or steroids, the treatments shown to be effective, and still recovered. Only 9/17 patients remaining in hospital when PCR results reported M. pneumoniae had ineffective antibiotics stopped.
Conclusions
The clinical profile for an MPI in children included expected signs and symptoms (cough, fever, etc.), with atypical features such as pain and rash. Children aged <5 were more often brought to hospital and overall experienced more symptoms than older children. It is unclear whether Macrolides are required for treating MPI, as many patients prescribed ineffective antibiotics recovered without further intervention. As only 52.9% of ineffective antibiotics were stopped following PCR results, it appears that these have little impact on clinician prescribing.
Abstracts for clinical presentations: repeated cerebellar ataxia in type 1 diabetes
Ninewells Hospital, UK
Abstract
Case
A 17-year-old boy with type 1 diabetes presented with a week’s history of progressive unsteadiness while walking and slurred speech. He had a mild generalised headache and complained of dizziness. On examination, he had gait ataxia, dysarthria, past-pointing and lateral nystagmus. There was no optic nerve swelling or papilloedema. Magnetic resonance brain imaging, cerebro-spinal fluid (CSF) examination for cells, protein, culture and viral studies were normal. Urine toxicology showed no abnormality. He had an identical presentation, when he was eight years old with onset of symptoms again over the course of a week. The working diagnosis was post-viral cerebellitis, although there was no imaging or CSF laboratory evidence corroborating this. He made a complete recovery over several months. He subsequently developed type 1 diabetes at the age of 12 years and this has been well controlled with insulin pump treatment. Anti-GAD (glutamic acid decarboxylase) antibodies measured at diagnosis were 43 µ/ml (normal range 0–1). In view of the association of anti-GAD antibodies in diabetes and in neurological disease, the titre was repeated. This was markedly raised at 9313 µ/ml in serum and 1419 µ/ml in CSF. He is currently being treated with intravenous immunoglobulin with an unclear prognosis.
Discussion
There are many case reports in adults linking type 1 diabetes with anti-GAD antibodies and a spectrum of neurological disease. However, there are to our knowledge no published cases of anti-GAD-associated cerebellar ataxia in a child or in an adolescent nor of this occurring in episodes some nine years apart. We have no laboratory evidence to implicate anti-GAD antibodies in this patient’s first episode of ataxia but the presentations are remarkably similar. The pathogenesis remains a debated issue, particularly as these are intra-cellular antibodies and distinguishing between the isoforms of the diabetes-specific and neurology-specific anti-GAD are difficult. Gold standard treatment and prognosis for our adolescent are also unknown.
When adolescents refuse consent
Department of Paediatrics, Wishaw General Hospital, UK
Abstract
Consent is vital to every medical act, without which our healing art becomes criminal assault. In paediatrics, this has become increasingly complex as the rights of the child has evolved through a patchwork of precedent and statute. This case explores consent and capacity in an adolescent patient refusing life-saving intervention in the context of the Scottish legal framework.
WG is a 15-year-old girl who attended the Emergency Department overnight with her mother. She reported polydipsia, polyuria and significant weight loss. She had glycosuria and ketonuria. She has autoimmune hypothyroidism but had not attended clinic for several years. A diagnosis of type 1 diabetes mellitus was suspected.
WG refused any blood tests, including capillary blood glucose (CBG), due to a severe needle phobia. Since she was not clinically in diabetic ketoacidosis, it was agreed that she could attend paediatrics, the following morning with her mother and adult sister. Again WG refused the blood tests despite a clear explanation of the risks, including that of death. She eventually agreed to a trial of oral sedation with midazolam to facilitate venepuncture, which was unsuccessful. Her family were present and supportive of our efforts.
Legal advice was sought from a medical defence union. In Scotland, children attain competence at 16 years old, but may be judged competent at a younger age. Since WG is 15 years old, she most likely had attained competence. A parent cannot overrule a competent child’s decision. Therefore, if she has capacity, then a court order would be required, but if not then parental consent would be sufficient. They also suggested consulting the hospital legal department, who informed us that this was outwith their remit. We later found that the central legal office advise on these issues.
Psychiatry assessed WG and found that her ability to consent was impaired by her deranged metabolic state. Venepuncture was performed with written consent from both parents. The diagnosis of diabetes was confirmed and insulin was started. Within 24 h, her CBG had normalised and she was checking it herself. She had begun learning to self-administer insulin.
Key messages
Capacity to consent is act specific, and may be affected by disease processes. In Scotland, competent children can consent or refuse treatment. Parental rights cannot override their decision. The Central Legal Office, rather than the hospital legal department, is a useful contact. Defence Unions and GMC publications can provide advice.
A complicated ADEM: a demonstration of the importance of clinical assessment
1Department of Paediatric Neurology, Royal Hospital for Children, UK
2Institute of Neurological Sciences, Queen Elizabeth University Hospital, UK
Abstract
Aims
We present an unusual case of acute disseminated encephalomyelitis (ADEM), complicated by raised intracranial pressure with need for urgent neurosurgical intervention and the lessons that can be learnt from this.
Case
A 5-year-old boy presented to a district general hospital with a cluster of seizures involving pupillary dilatation, loss of awareness and behavioural arrest. Inter-ictally, he seemed emotionally labile. Lumbar puncture and CT brain were normal and he was discharged after three days. He gradually improved but was never felt to be back to normal. Three weeks, later he developed headache and irritability. Following review by local paediatric services, concerns were raised regarding encephalopathy and transfer was arranged to paediatric neurology. Examination showed an irritable child, with absent deep tendon reflexes and upgoing plantar reflexes. He had elevated CSF protein. Imaging revealed extensive inflammatory change within brain, cerebellum and spine consistent with ADEM. He was commenced on high-dose steroid. He remained mildly encephalopathic, and he was noted to be reluctant to swallow, seemingly reflecting a degree of bulbar dysfunction. He required treatment for neuropathic pain.
On day 4 of treatment, he became suddenly comatose due to raised intracranial pressure and was intubated and ventilated. Although there was no substantial change to the neuroimaging, in light of this acute clinical deterioration, he was taken to theatre for a foramen magnum decompression with good effect, and was extubated the following day. However, he remained encephalopathic and was started on three days intravenous immunoglobulin; thereafter showing a slow but steady improvement. He was discharged three weeks after admission. He was subsequently reported to have myelin oligodendrocyte glycoprotein (MOG) antibodies in blood taken at the time of admission.
Discussion
The case is notable for the unusual neuroimaging and for requiring neurosurgical intervention. The images of the inflammatory changes within the brain and spinal cord are striking, and it is interesting to compare the neuroimaging with the clinical sings of encephalitis and the clinical evidence of spinal cord involvement, which although relatively subtle was clearly demonstrable. The clinical deterioration due to raised intracranial pressure was unexpected and demonstrates the need for alertness to changes in the clinical condition. Additionally, the decision to take the child to theatre was based largely on the clinical picture rather than the neuroimaging, and good clinical assessment was a key. The positive test for anti-MOG is also of interest and we discuss the relevance of this finding.
Sodium, sepsis and steroid hormones
Department of Paediatrics, Crosshouse Hospital, UK
Abstract
A 5-week-old baby presented to the paediatric ward with a history of progressive weight loss. Antenatal history and detailed scan were unremarkable. He was exclusively breast fed, and appeared to be feeding well, with plentiful maternal milk supplies. On clinical examination, he was well, with normal observations. He was passing normal stool and urine volumes and had a normal urinary stream.
Initial bloods showed profound hyponatraemia (Na 119), hyperkalaemia (K + 5.7) and hypochloraemia, with low bicarbonate (13). Provisional diagnosis was of hypoadrenalism or CAH; however, short synacthen test was normal and hydrocortisone replacement failed to improve his electrolyte imbalance.
Clean catch urine taken on admission revealed >2000 WBC and bacteruria. Urgent ultrasound demonstrated severe left-sided hydronephrosis and hydroureter with normal right kidney and bladder. He was subsequently catheterised, treated for urinary sepsis and given additional sodium. Repeat ultrasound the following day showed reduction in the left-sided dilatation. Urgent MCUG demonstrated no significant reflux on either side with an apparently normal posterior urethra and normal bladder function. He responded well to treatment with rapid improvement in electrolytes. He was transferred for emergency cystoscopy which demonstrated posterior urethral valves which were ablated.
His admission aldosterone level was 45 times the upper limit of normal confirming the diagnosis of transient pseudohypoaldosteronism secondary to urosepsis and obstructive uropathy.
This case demonstrates an unusual consequence of relatively common urinary tract pathologies, namely infection and obstruction. It also shows how a logical diagnostic approach to profound electrolyte disturbance will reveal the diagnosis. Transient pseudohypoaldosteronism is rare but recognised in the literature, and although not fully understood, it is thought that aldosterone resistance is induced by sepsis and obstruction leading to excessive sodium loss. In cases of severe electrolyte disturbance, it is pertinent to think of renal tract as well as endocrine aetiology.
A rare complication from a common problem – Mycoplasma pneumoniae lower respiratory infection complicated by splenic infarction
Department of Paediatric Respiratory & Sleep Medicine, Royal Hospital for Children, UK
Abstract
A previously healthy 15-year-old girl presented with pyrexia, cough and exertional dyspnoea. She was febrile and had chest signs suggestive of a right-sided pneumonia. A chest radiograph confirmed this diagnosis, and she was commenced on IV cefuroxime. A throat swab was PCR positive for Mycoplasma pneumonia, and a three-day course of oral azithromycin was commenced. On day 3 of admission, her symptoms progressed, and repeat chest radiograph showed extensive fluid collection on the right side of the thorax. A chest ultrasound scan demonstrated a 4 cm deep effusion. Two surgical chest tubes were inserted and 1 l of haemoserous fluid was drained. A diagnosis of parapneumonic effusion was made and the chest drains remained in place until day 7. She developed a fever on day 9 and clindamycin was commenced. On day 10 of treatment, she remained febrile and began to complain of severe left-sided abdominal pain radiating to the shoulder tip - with an opiate patient controlled analgesia system required to achieve pain relief. Given ongoing fevers, a repeat chest radiograph and chest ultrasound were performed, but these did not show re-accumulation of effusion. An abdominal ultrasound demonstrated evidence of infarction of most of the spleen, which was confirmed on MRI. Subsequent blood results showed positive anticardiolipin antibodies.
Splenic infarction is a rarely reported association of Mycoplasma infection that is thought to be caused by the generation of autoantibodies including anti-phospholipid and anti-cardiolipin antibodies that lead to a hypercoaguable state that results in infarction secondary to thrombus.
The diagnosis was written in the walls
Neurology Department, Royal Hospital for Children, UK
Affiliation: Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Children, Glasgow
Abstract
A 2-year 4-month-old girl presented with a six-day history of vomiting and lethargy. On examination, she was initially found to be pale and lethargic, but she had no focal neurology. She had a sudden deterioration showing signs of raised intracranial pressure with apnoeas, hypertension and bradycardia. She was intubated as an emergency and a CT head demonstrated signs of cerebellitis and obstructive hydrocephalus. An extra-ventricular drain was inserted and she was admitted to PICU. The patient developed seizures which were resistant to multiple drug treatments and an EEG was very abnormal with burst suppression. At this point, the main differential diagnosis was a post infectious cerebellitis or an autoimmune encephalitis. She was treated with methylprednisolone and IVIG accordingly. Her seizure control gradually improved allowing extubation and after two weeks in PICU she was discharged to the ward.
The patient made slow gradual improvement whilst still having intermittent seizures. There were no past medical problems, but the patient was almost exclusively breast fed with a ferritin of 26. Extensive neuroimmunological investigations were performed, all of which were negative. Blood for heavy metals revealed that the blood lead level was very high at 68 µg/100ml (normal – <10 µg/100 ml). This provided a surprising diagnosis of lead encephalopathy secondary to PICA.
Her parents had witnessed the patient eating wallpaper and a public health assessment of the home revealed high levels of lead in the kitchen wallpaper. Chelation therapy was commenced and has continued following discharge as her blood lead level continues to be high. The patient has made a remarkable recovery. She is almost seizure free and is now back to her normal self with no discernable neurological deficit.
PICA is not an uncommon paediatric problem and although it is poorly understood, it does not usually have severe consequences and resolves with treatment of the underlying cause. Lead encephalopathy is rare with only a handful of reported cases. The main cause of lead toxicity in children is ingestion and children are more susceptible to toxicity than adults. Lead toxicity at high levels can result in encephalopathy, seizures, coma and death.
This case highlights how PICA can have devastating consequences and that lead toxicity, although rare, should be kept in mind when a child presents with anaemia and neurological changes, particularly cerebellitis.