Poster Abstracts


Abdulla C1, Telfer P2

1BHR University Hospitals, London, United Kingdom

2Barts & London Hospitals NHS Trust London, United Kingdom

Introduction: Stroke is among the top ten causes of death in childhood. the incidence of stroke is around 2 per100,000-population (approximately 30–40 cases per year in RCH Melbourne)1 majority ends up in long term neuro-disabilities.

Stroke Prevention Studies on Sickle Cell Disease (SCD) children, has helped in primary prevention of stroke in children by early identification of cerebral arterial blood flow changes using TCD Scanning. TCD scanning with treatment is cost effective 2

In Australia, SCD, although uncommon is now increasing because of the migration of genetically susceptible population. TCD scanning is used in Australian Intensive Care Units. This presentation is to share our experience to explore the use of TCD scan to prevent stroke in high risk Australian children.

Methods: All SCD children who had TCD scan during the period 2004–2009 in Royal London Hospital were analysed retrospectively.

Results: A total of 360 children between 2 and 16 yrs. old had TCD scanning; 6% had high velocities (high risk) of which 3% showed silent/+ clinical signs of infarction. Blood flow velocity of children on treatment returned to normal standard.

Conclusion: TCD is a useful investigation tool in early recognition and prevention of stroke in high risk SCD children. Use of TCD scanning can be explored in all high risk children for stroke in Australia.


1. Stroke Foundation Fact Sheet – Dr.Mark Mackay, Paediatric Neurologist, Director Children's Stroke Program, Children's Neuroscience Centre, Royal Children's Hospital Melbourne.

2. The clinical effectiveness and cost-effectiveness of primary stroke prevention in children with sickle cell disease: a systematic review and economic evaluation. MG Cherry, J Greenhalgh etc.


Alhucema P1, Greenway A1, Campbell J1

1The Royal Children's Hospital (RCH), Melbourne, Victoria, Australia

Background: Vitamin B12 (vit-B12) or cobalamin is essential for normal blood and neurological development. Early recognition and treatment is important and therefore a sensitive marker to assess vit-B12 status is essential. A new method to detect levels involves active vitamin B12 (Holotranscobalamin) instead of total serum vit-B12. This is suggested to be a more sensitive marker and may provide an earlier marker of deficiency (1) (2)

Objective: To review the clinical presentation and risk factors for a population of children with low active vitamin B12 (active-B12). Are we detecting patients with subclinical or early deficiency by utilizing a more sensitive assay?

Methods: This is a descriptive retrospective analysis of children with measured low active-B12 over a 3 year period at RCH, Melbourne.

Results: The total low active-B12 results were 109. Children at higher risk for developing vit-B12 deficiency were: ≤ 1 year of old and patients with malabsorption >1 year old. Our study suggests active-B12 is a more sensitive assay, with 49.5% of patients being asymptomatic; 23.3% with macrocystosis on film and only a quarter with evidence of tissue deficiency, however this cannot be accurately concluded until we have established a paediatric reference range for serum homocysteine and all children with low active-B12 are investigated for signs of tissue deficiency with total homocysteine and methylmalonic acid.


1. Nexo E, Hoffmann-Lucke E. Holotranscobalamin, a marker of vitamin B-12 status: analytical aspects and clinical utility. The American journal of clinical nutrition. 2011;94(1):359S365.

2. Herrmann W, Obeid R, Schorr H, Geisel J. Functional vitamin B12 deficiency and determination of holotranscobalamin in populations at risk. Clinical chemistry and laboratory medicine: CCLM / FESCC. 2003;41(11):14781488.


Paget SP1,2, Caldwell PHY2,3, Murphy J4, Lilischkis KJ5, Morrow AM1,2

1Kids Rehab, The Children's Hospital at Westmead, New South Wales, Australia

2Sydney Medical School, University of Sydney, New South Wales, Australia

3Centre for Kidney Research, The Children's Hospital at Westmead, New South Wales, Australia

4Service Improvement Unit, The Children's Hospital at Westmead, New South Wales, Australia

5Kids Research Institute, The Children's Hospital at Westmead, New South Wales, Australia

Background: Whilst clinicians are often cited as being in the best position to identify research priorities, their research participation is poor, particularly in paediatrics. An online questionnaire was sent to clinicians working at our hospital to explore attitudes to research participation1. The low response rate (17%) prompted us to conduct focus groups to better understand the factors involved.

Aims/Objectives: To improve understanding of the factors influencing and inform strategies to improve research participation in clinicians at a tertiary children's teaching hospital.

Methods: Six focus groups (two each for doctors, nurses and allied health professionals (AHPs)) were conducted between December 2010 and April 2011. Audio recordings of the focus groups were transcribed and the data analysed using Excel. Thematic analysis was conducted through an inductive process based in grounded theory, and passages of text were coded according to theme using the constant comparative method. Additional analysis examined differences in responses between professional groups.

Findings: Forty clinicians participated in the focus groups (17 doctors, 12 nurses and 11 AHPs). Research participation was identified as important but a core part of workload. Factors influencing research participation were grouped into three major themes (Personal, Cultural and Logistic). Professional groups differed in the content of subthemes. Solutions suggested for increasing research participation were grouped into seven subthemes (culture change, relevance, protected time, communication and collaboration, accessible funding, information and education, and research mentors / champions).

Conclusions: The results of this study provide a useful insight into the factors influencing clinicians' research participation. Differences between professional groups suggest that a one-size-fits-all approach will not be sufficient to improve research participation across all groups.


1. Paget SP, Lilischkis KJ, Morrow AM, Caldwell PHY. Embedding research in clinical practice: differences in attitudes to research participation among clinicians in a tertiary teaching hospital. Intern Med J. 2014; 44:8689.


Didsbury M1, Kim S1,2, Medway M1, Tong A1,2, Craig J1,2, Wong G1,2

1Sydney School of Public Health, The University of Sydney, Sydney, New South Wales, Australia

2Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia

Introduction: Quality of life (QoL) is a critical outcome in the management of chronic diseases in children. The aims of this study were to summarise the association between social disadvantage of the caregivers and the quality of life of children with chronic disease; and to determine the specific social and economic factors that impact on the QoL of these children.

Methods: We systematically reviewed all studies that had measured and reported on the association between at least one measure of social disadvantage in caregivers and at least one QoL measure in children with asthma, chronic kidney disease (CKD), type 1 diabetes and epilepsy. MEDLINE, Embase and PsycINFO were searched to January 2014. These conditions were included as they represent the four most prevalent and debilitating non-communicable childhood diseases.

Results: From 7748 records, 24 eligible cross-sectional studies were identified and included (n = 5,969; 5 asthma [n = 462], 3 CKD [n = 593], 10 Epilepsy [n = 1450], 6 T1D [n = 3464]).

Overall, 19 (79%) studies reported a significant association between at least a single SES determinant and QoL across all disease groups. Significant factors included the level of parents' education, family income, parents' occupation, level of health insurance and the parents' marital status. Children with type 1 DM whose mother had completed higher school certificate experienced better overall QoL compared to those who completed primary education (standard mean difference (SMD) 0.52, 95% CI: 0.01 to 1.03, I2 = 85%, P = 0.05). Household income did not have a significant impact on QoL (SMD: 0.50, 95% CI: −0.37 to 1.37, I2 = 85%, P = 0.26).

Conclusion: Among children with chronic diseases, those who are from economically disadvantaged backgrounds reported poorer quality of life than their wealthier counterparts. Strategies to improve the socioeconomic gradient of the caregivers may prevent or reverse the unfavourable health outcomes in children with chronic illness.


Bret Hart

Unity of First People of Australia, Western Australia, Australia

A recent return to the Kimberley after an absence of 3 decades gave the impression that Aboriginal health has deteriorated despite more resources being allocated over the same period.

This prompted a review and confirmed that there is no shortage of evidence and reports regarding the poor state of ATSI people compared to other Australians over many years. This is realised in ATSI communities with one describing a “Dark Cloud” overshadowing future prospects for their health and the health of their children. This concept is consistent with Jilek's syndrome of ‘anomic depression’ induced by the loss of a community's socio-cultural identity. This was before the concept of ‘biological embedding’ was conceived and predated an appreciation of the epigenetic influence of past trauma. “The stolen generation” exacerbated their adverse past history. Also the social determinants of health are compromised in many ATSI people. All these factors help explain why improving ATSI health has been a challenge and will be in future due to the foetal and childhood origins of adult disease.

With most of the multiple determinants of ATSI health lying outside the health care system, any improvement will require a new coordinated multisectoral approach. This whole of government response is the basis of ‘Health in All Policies (HiAP)’ – a growing movement in Europe and the USA. As the Prime Minister has taken responsibility for Indigenous Affairs, he is uniquely placed to instruct his Ministers and their departments to ensure their policies and programs are ATSI health enhancing.

By selecting the early years as a priority and adopting an ATSI HiAP approach, there is the potential to prevent further transgenerational transmission of trauma and disadvantage and to finally achieve the elusive goal of improving Aboriginal health.


John B Myers

Wellspring's Universal Environment P/L, Balaclava, Victoria, Australia

Aim: To promulgate a GST that provides a unifying theory of understanding of biological response including behaviour, disease, aging, epi-genetics and evolution.

Introduction: Claude Bernard is considered the father of physiology. His theory/concept of the constancy of the milieu interieur helps to explain the migration of sea animals to land, as fluid bathing cells within the organism is composed of water and sodium primarily as found in sea.

Methods and Results: Experimental findings in humans showed that plasma sodium concentration remains constant to within or <1% on a two week diet of added sodium, whereas cell sodium increased by 30%.

Discussion: On the basis of these results Myers (Medical Hypotheses.1982;9:241–57) proposed a general biological theory (General Systems Theory (GST)) termed “the constancy of the milieu exterieur”, which is the same as Claude Bernard's except viewed from the cellular perspective rather than the multi-cellular organism's, based on two assumptions of biological response. A. Innermost membranes maintain the fluids external to that membrane within an optimal range. This occurs at all outer levels of biological organisation. B. A persistent disturbance of the external fluid at any biological level of organisation will result in change in the inner fluids. According to Hochachka and Somero, physiological response may be rapid (escape) or occurs by adaptation. Thus adaptation may be adequate and appropriate leading to evolution if breeding and survival is enhanced, and epi-genetics in utero; to disease if adaptation is either inadequate or inappropriate; to aging if the change in environment is not sensed i.e. not responded to; and to death if the environmental change is sudden or overwhelming. Likewise, behavioural response is an attempt to control the external environment. Ethical response reflects appropriate and/or adequate inner change and adequate or appropriate response to environmental changes/challenges.

Conclusion: GST provides a general understanding of biological responses.


Vicki Burneikis

Central Coast Local Health District, New South Wales, Australia

Aim: To ascertain whether sending text messages to parents' mobile phones the week before routine paediatric outpatient appointments can reduce rates of non-attendance.

Method: For 23 weeks, from the start of school term 3 to the end of term 4 of 2013, text message reminders were sent to parents or carers whose children had appointments in 12 randomly selected weeks, but not the remaining 11 weeks. Those not sent text messages received no reminders, but all appointments were written on cards at the time of booking (typically 3–6 months prior). The time taken to send the messages was recorded.

Results: 93 parents received text messages, and of these 84 children (90%) attended appointments. 82 parents received no confirmation, and of these 58 (71%) attended appointments. Text messages took an average of 45 seconds each to send.

Analysis and Conclusion: Text messages improved attendance from 71 to 90% (chi squared = 10.9, p < 0.01). The Number Needed to Text to get one extra attendance (NNT) was 5.1, meaning just under 4 minutes of work led to one more attendance. Average revenue generated per patient was estimated from the previous years' income as $110, making text messages an extremely cost effective intervention.


Kaur N1, McCrossin T2

Introduction: Allergies are the fastest growing chronic diseases in Australia1. Food-induced anaphylaxis has doubled in the last 10 years and 10% of Australian infants have proven food allergy2. Deaths due to anaphylaxis, especially food related, occurring in community highlight the issue of increased awareness and anaphylaxis education of patients by health professionals.

Aim: We hypothesized that Anaphylaxis education of staff using Adrenaline auto-injectors would improve patient care and surveys were used to evaluate knowledge retention.

Methods: Quality improvement methodology was used. Multi-voting by a team of medical and nursing staff from paediatrics and emergency identified the categories for inadequate education which were: lack of confidence and knowledge of access to resources, Lack of education and inadequate equipment. Education sessions for staff highlighting the different techniques to use Adrenaline auto-injectors and raising awareness of resources such as ASCIA website were undertaken over a period of 8 weeks. Anaphylaxis education Kits including Adrenaline auto-injector trainers were developed. The effectiveness of sessions was measured by a pre and post education survey.

Results: A total of 55 staff participated in the study, which included (medical-38%,nursing-42% , medical and nursing students -18%).The confidence in writing an anaphylaxis action plan increased from pre-education 34% to post education-89%. The confidence in demonstration of adrenaline auto-injector use increased from 51% to100%. The post education experience showed improved patient education and demonstration of auto-injector use.

Conclusion: Anaphylaxis education led to significantly improved knowledge and skills of staff which improved patient care. Follow up at 12 months will study knowledge retention and use of anaphylaxis education kits.


Australasian Society of Clinical Immunology and Allergy1 (ASCIA), Allergy and Immune Diseases in Australia report 20132


Noovao RJ, Graham D

Waikato Hospital, Hamilton, New Zealand

Background/Aims: Fragile X Syndrome (FXS) is the most common monogenetic cause of Intellectual Disability and Autism Spectrum Disorder currently known. Genetic testing is however expensive and produces a low yield of positive results. This study sought to identify potential methods that could reduce testing costs without jeopardising prompt and accurate diagnosis.

Methods: A three-tiered approach involved a local 200-child clinical audit, an Australasia-wide questionnaire responded to by 224 paediatricians and a systematic review of the literature to identify a FXS screening checklist to assist in reducing the number of unnecessary FXS tests requested.

Results: The clinical audit showed that the majority (86%) of Waikato paediatricians used appropriate indications when requesting FXS tests. However, there was potential to reduce testing costs by 24% by using ‘best practice’ guidelines, a stepwise approach to investigations or a second review before requesting investigations in cases of diagnostic doubt.

The clinician questionnaire revealed over-investigation of children with Attention Deficit Hyperactivity Disorder or Specific Learning Disorders alone by some clinicians, while others under-investigate girls and those with mild Intellectual Disability. The questionnaire also demonstrated that 60% of clinicians would consider using a FXS screening checklist, provided certain conditions were met.

Lastly, a systematic review of the literature suggested the possibility of reducing FXS testing costs by up to 60% in boys. However, due to borderline validity and generalisability, such a checklist would need a rigorous local trial to ensure that diagnostic accuracy is upheld before its use could be recommended. No valid checklists can currently be recommended for girls.

Conclusion: Adherance of all practitioners to ‘best practice’ guidelines, a stepwise approach to investigations, re-review of patients in whom there is diagnostic doubt and a locally validated FXS screening checklist in boys all have potential to improve diagnostic efficiency and cost utility in the investigation of FXS.


Zurynski Y1,2, Deverell M1,2, Christodoulou C2,3,4, Leonard H5,6, Phu A1,2, Dalkeith T2,3, Johnson SLJ2, Elliott E1,2,4

1Australian Paediatric Surveillance Unit

2Sydney Medical School, The University of Sydney

3Western Sydney Genetics Program

4Sydney Children's Hospitals Network

5University of Western Australia

6Telethon Institute for Child Health Research

Background: There are over 8000 different rare diseases. Most have onset in childhood, are chronic, complex, and require frequent specialist care. Few studies have analysed the impact of rare childhood diseases on health services.

Aims/Objectives: We aim to describe health service use in a large group of Australian children living with rare diseases.

Methods: A survey was sent to families who have children aged <18 yrs with a rare disease. The survey asked about health services use over the last 12 months. Families were recruited from the Steve Waugh Foundation, The SMILE Foundation, the Association of Genetic Supports of Australasia and the Genetic Metabolic Disorders Service, at the Children's Hospital at Westmead. Surveys were completed by a parent or carer.

Findings: 443 surveys have been completed. The 443 children represented ∼300 different rare diseases; 24 had no final diagnosis. The children were evenly distributed across age groups (median 9 yrs) and 95% were Australian born. In the last 12 months 367 patients visited a general practitioner and accounted for a total of 3011 visits; 260 patients visited a paediatrician- total 1057 visits. Other specialists were also frequently accessed: geneticists (151 patients; 363 visits), surgeons (131 patients; 382 visits), and neurologists (127 patients; 343 visits). There was a substantial number of visits to allied health professionals: occupational therapists (183 patients; 1737 visits); physiotherapists (178 patients, 2566 visits) and speech pathologists (154 patients, 2060 visits). 242 patients had at least one hospital admission.

Conclusions: The use of primary care, specialist and allied health services is very high and the associated costs are likely to be significant. We are currently analysing the cost impacts of rare childhood diseases on in-patient services. Families called for integrated multidisciplinary clinics to avoid fragmentation of care, to save costs to the family and to improve their experiences.


Malcolm John

Bay of Plenty District Health Board, Whakatane, New Zealand

Background: Short audits are quick and yield useful insights to inform practice. Paediatricians are presented with 15–30 three monthly benzathine penicillin IM prescriptions in District Nursing Service (DNS) folders to sign at the end of a working day. Prescribing becomes an audit window giving insight into primary, secondary and tertiary prevention of Acute Rheumatic Fever (ARF) and Rheumatic Heart Disease (RHD).

Objectives: To audit the ARF cohort from three rural towns, for improvable elements, either causal pathway, co-morbidities, confounding factors for patient diagnosis. To audit analgesia, and factors in “Bicillin” adherence for secondary prevention, and clinical follow-up as contributors to timely management, surgery when indicated, moderating morbidity and mortality.

Methods: Benchmarks are Cardiac Society ANZ endorsed National Heart Foundation (NHF), ARF guidelines/ algorithms on treatment of Group A Streptococcus pharyngitis, diagnosis/management ARF, clinical follow-up intervals by cardiac severity. Follow-up appointments offered, and attended, were compared to standard and clinician recommendation. Reviewing clinician contacted patient's whanau (extended family) clerical staff, medical and nursing clinicians, as indicated.

Conclusions: Short audits with ARF RHD focus conducted over 5 years confirmed ARF distribution by age, ethnicity, geography, and deprivation decile. ARF was associated at times with non presentation for sore throats, short treatment prescribed and adherence issues. Some RHD patients presented in cardiac failure with preceding sub-clinical ARF. At times diagnosis was delayed by non-admission, confusing co-morbidity, non-steroidal use, undue orthopaedic focus, and limited echocardiograph access. Clinician turnover, unfamiliarity, non-adherence to NHF guidelines impacted on diagnosis and management. Clinical Follow-up duration was limited, sometimes with long intervals, (some not on IM Penicillin). Complex concurrent family challenges were ameliorated by whanau family support. Rapid audits while prescribing “Bicillin”, address aspects of ARF/ RHD quality improvement.


Michelle Nicholson1, Isobel Heyman2, Benjamin Baig2, David Dossetor1, Clara Marecos3, Manju Kurian3, Mary-Clare Waugh1, Ruth Evans1, Joshua Burns1, Russell Dale1

1The Children's Hospital at Westmead, New South Wales, Australia

2South London and Maudsley NHS Foundation Trust, UK

3Great Ormond Street Hospital for Children NHS Foundation Trust, London UK

Background: Although it has been well described that children Tourette Syndrome have higher rates of psychiatric comorbidities than community controls, there is little known about the mental health problems that affect children with non-Tourette movement disorders.

Objective: The aim of this study is to describe the prevalence of psychiatric co-morbidities in children (5–16 years) with movement disorders from an Australian clinic population and to compare this rate with normative data using the same psychiatric assessment tool.

Methods: Children were recruited through secondary and tertiary clinical settings when they attended for review with a Paediatric Neurologist or Rehabilitation Specialist.

Participation in the study required completing a detailed psychiatric assessment questionnaire called the DAWBA (Development and Wellbeing Assessment) tool.(1)

The DAWBA is a screening questionnaire that collates information relating to emotional and behavioural symptoms and their impact and derives DSM-IV psychiatric diagnoses.

Approximately half (51%) of children in the study had Tourette disorder. The remaining 49% had other movement disorders including dystonia (n = 38), chorea (n = 13), tremor (n = 3), stereotypy (n = 3), myoclonus (n = 2), mirror movements (n = 1), and psychogenic (n = 1).

Results: The rate of DSM-IV psychiatric disorders in the Tourette group was 26%. In the non-Tourette group the rate was a similar 29%. These figures represent an almost three fold increased prevalence compared to population rates of 9.5% found in a UK community cohort of 7912 children.(1).

Conclusion: This study suggests that children with movement disorders other than Tourette Syndrome are almost three times more likely to meet threshold for a psychiatric diagnosis than children in the general population. These preliminary findings contribute to an important aspect of movement disorder phenomenology.


1. Goodman A, Heiervang, E., Collishaw, S., Goodman, R., The ‘DAWBA bands’ as an ordered-categorical measure of child mental health: description and validation in British and Norwegian samples. Soc Psychiatry Psychiatr Epidemiol. 2011;46(6):521532.


Trainee name: Julia Parmeter

Supervisor names: Dr Catherine Allgood, Dr Raymond Chin, Professor John Whitehall

Hospital: Campbelltown Hospital, NSW.

Description of Case

We present the case of a neonate born with normal Apgars to a mother with ICP who developed

biventricular failure, acute renal vein thrombosis and hyperbilirubinaemia requiring exchange transfusion within the first few days of life.

The neonate was delivered by Caesarian section at 36 weeks gestation from a mother ICP because of decreased foetal movements and non-reassuring cardiotocography. The mother had pruritis from

25 weeks gestation and was treated with ursodeoxycholic acid from 30 weeks gestation. Maximal bile acids were 40 μmol/L at 32 weeks gestation and were associated with mildly elevated liver enzymes. The birth weight was 3401 g and Apgars were 9 and 9 at 1 and 5 minutes respectively. Respiratory distress developed at two hours of age with haemoglobin 198 g/L, white cell count 20.5 x10∧9/L, platelets 94 x10∧9/L and metabolic acidosis (pH 7.27 pCO2 42, HCO3 18.9, BE -7.7). Broad- spectrum antibiotics were commenced.

At 25 hours of age the baby developed haematuria and hepatomegaly was noted, but there were no cardiac murmurs and peripheral pulses were normal with a blood pressure 80/67 mmHg (75% centile). The chest xray was unremarkable. Ultrasonography revealed left renal vein thrombosis (RVT). At 32 hours of age echocardiography revealed biventricular failure with an ejection fraction of

15%. He was intubated, and transferred for tertiary care, including clexane and inotropy. By Day 5, cardiac function was normal, but hyperbilirubinaemia developed (peak bilirubin 461 μmol/L) and exchange transfusion was required. Subsequent progress was uneventful. Thrombophilia screen done subsequently was normal.

Issues of Interest in the Case

  1. What caused the renal vein thrombosis? None of the classical causes are present including perinatal asphyxia and the thrombophilia screening is normal. Is renal vein thrombosis an unreported complication of ICP, or did an undetected cardiomyopathy cause renal vein thrombosis?
  2. What caused respiratory distress? Did excess bile acids, as has been reported in the literature?
  3. What caused the cardiomyopathy? ICP is associated with sudden foetal death, arrhythmias and mitochondrial suppression but why was presentation delayed? Was there failure from in- utero bile acids despite normal Apgars and cardiac signs? Did renal vein thrombosis lead to cardiomyopathy?
  4. Did hepatocyte damage impairing conjugation from the raised bile acids along with absorption of thrombus cause hyperbilirubinaemia?
  5. We propose ICP caused cardiomyopathy with secondary respiratory distress, acidosis and RVT and advise early echocardiography.


Sgarlata J1, Edwards M1,2, Allgood C1, Bent G1, Whitehall J1,2

1Campbelltown Hospital, New South Wales, Australia

2University of Western Sydney, New South Wales, Australia

Introduction: An alert, well grown 5 month old infant presented to Campbelltown Hospital, Sydney SW, with minimal cough for two weeks. Although not ‘sick’, she had severe tuberculosis, providing warnings: it can occur with minimal contact, in an ethnic community lesser known for tuberculosis (TB), and, without any major clinical signs, be widespread to include meningitis and be complicated by sudden demise.

History: She was born in Campbelltown to Tongan parents but a maternal cousin from Victoria visited for three individual weeks, as recently as 2 months ago. The cousin had sputum positive TB.

On admission, she was afebrile, RR 66, HR 140, saturations 96% in air with mild recession. She had decreased air entry on the right, and hepatosplenomegaly. CXR revealed right-sided consolidation, bilateral nodules and a widened pericardium. Hb was 108 g/L, WCC 15.8x 109/L, CRP 36 mg/L. Community acquired pneumonia was diagnosed and treated with penicillin and subsequently cefotaxime and lincomycin, without success. Fever rose to 39.3oC and work of breathing increased.

On day 2, ultrasound confirmed hepatomegaly with multiple hypo-echoic foci (to 1 cm) and uncomplicated splenomegaly.

Suspecting TB or malignancy, she was transferred to a tertiary centre where gastric aspirate AFB and positive PCR confirmed TB and four drug therapy was commenced. QuantiFERON-TB Gold In-Tube was later positive.

LP revealed one polymorph, three monocytes and four indeterminate cells. Glucose was 3.1 and protein was 0.5. No AFB. PCR negative. Two days later she collapsed with reduced consciousness. CT showed multiple tuberculoma with mild hydrocephalus and meningeal enhancement. She improved with steroids and was discharged in 2 weeks without discernible neurological signs.

Discussion: Paucity of clinical signs was indirectly proportional to gravity. The case demonstrates the higher rate of TB in children of migrant parents, though Tonga is not highly burdened.


Whitehall JS1,2, Vosu J1, Allgood C1,2, Mendoza-Cruz C2, Dunstan R1,2, Burgess T3, Edwards MJ1,2

1Department of Paediatrics, School of Medicine, University of Western Sydney

2Department of Paediatrics, Campbelltown Hospital, NSW Australia

3Molecular Cytogenetics, Victorian Clinical Genetics Services, Murdoch Children's Research Institute

Introduction: A baby girl born weighing 2155 gm at 37 weeks gestation was referred for genetic assessment because an elevated risk for trisomy 18 had been found on first trimester screening, she had poor postnatal growth and had hypertension and hypercalcaemia treated with a low calcium formula. There were no other hazards during the pregnancy and no relevant family history. At age 3 months the weight 3.48 kg was far below the 3rd percentile, length 54.2 cm was between the 1st and 3rd percentile and head circumference 38.5 cm was between the 3rd and 25th. One ear was outstanding from the scalp, and there was bilateral 5th finger clinodactyly otherwise there were no morphological features of a syndrome. A search of the literature identified a child with uniparental disomy of chromosome 7, Russell-Silver syndrome and hypercalcaemia5.

Methods and Results: CGH microarray (Agilent) was normal. Parathormone levels were normal or elevated at the time of hypercalcaemia. Illumina HumanCoreExome-12 v1.1 single nucleotide polymorphism microarray was performed on DNA from the patient, showing she had a long continuous stretch of homozygosity of chromosome 7q21.11q36.1 (nucleotides 80,474,046–151,846,195). SNPTrio analysis of the patient and her parents showed that both copies of chromosome 7 were maternally inherited. The patient's mother had normal calcium levels on several occasions during pregnancy.

Conclusion: This is the second child with Russell-Silver syndrome and hypercalcaemia reported to be associated with uniparental disomy of chromosome 7, although the previous patient had suppressed PTH levels, in contrast to the parathormone levels in our patient.

5Reference: Stark Z et al (2010). Atypical SilverRussell Phenotype Resulting From Maternal Uniparental Disomy of Chromosome 7. Am J Med Genet 152A:23422345.


Ho D1, Whitehall J1, Maday J2, Edwards M1

1University of Western Sydney, New South Wales, Australia

2Campbelltown Hospital, New South Wales, Australia

Acute respiratory distress is a major cause of infant mortality. In developed countries, bubble CPAP is employed with Fisher&Paykel (F&P) devices, costing up to AUD$8000 for installation and AUD$200 for consumables. Cheaper CPAP is needed for developing countries We compared CPAP from F&P with an over-the-counter fish tank pump (FTP).

Methods: Pressures generated by FTP and F&P at various flow rates were measured. The FTP system includes: fish-tank-pump (Sunsun Air Pump HP-1116), 11 mm diameter tubing, Teleflex Hudson RCI nasal cannula and a water bottle. F&P readings were obtained from a hospital set-up which correlated with data from their product brochure1. The water level gauge was set at 5 cm and 10 cm to create corresponding system pressures. The pressures were measured at the CPAP nasal cannula using a Fluke 922 Airflow Meter.



Table 1: CPAP generated by F&P and FTP at various flow rates and gauge depths

Water Gauge set5 cm10 cm
Flow Rate [L/min]F&P1FTPF&P1FTP

Discussion/Conclusion: FTP generated consistent and comparable pressures with F&P (Pearson correlation coefficient 0.997) at a unit cost of approximately AUD$50, which is also less than a recent ‘cheap’ African system (USD$350/unit)2. FTP does not require hospital gas. It draws room air with attendant warmth and humidity, and worked efficiently for over 14 days. Oxygen can be added using a T-piece connected to the input tubing.


1. Bubble CPAP system set-up guide. Fisher & Paykel Healthcare; 2011. Available from:

2. Brown et al. A high-value, low cost bubble (CPAP) for low resource settings. PLOS One. 2013. 8 (1). E53622


Whitehall JS1,2, Karunaratne N1, Ambler R3, Chaseling R4, Edwards MJ1,2

1Department of Paediatrics, School of Medicine, University of Western Sydney

2Department of Paediatrics, Campbelltown Hospital, NSW Australia

3Mount Druitt Hospital, Sydney, NSW, Australia

4Neurosurgery, Children's Hospital, Westmead NSW Australia

Introduction: Atresia of the foramen of Magendie causes Blake pouch cyst (BPC), a posterior dilatation of the fourth ventricle, sometimes leading to non-communicating hydrocephalus involving all ventricles. A 5-year-old girl presented for genetic assessment of hydrocephalus with BPC, diagnosed by MRI for ataxia, speech problems and macrocephaly, and treated by ventriculoperitoneal shunt. The pregnancy was conceived by donor-egg IVF, previous embryos having died early in culture. A child of the egg donor had an unspecified bowel problem. Vaginal bleeding occurred in the first trimester, weight gain was 7 kg, fetal ultrasound at 26 weeks showed renal pelvis dilatation but was normal at 36 weeks. Birth weight at 36/40 was 3.41 kg (90th percentile), an ectopic anus was repaired at 4 months. The patient had recurrent febrile and possible afebrile seizures and urinary tract infections but postnatal renal ultrasound was normal. Spinal MRI of the spine was normal.

Methods and Results: Weight and height were above the 99th percentile, head circumference 55.2 cm was further above the 99th percentile. There were no features of VACTERL syndrome apart from the ectopic anus. CGH microarray and chromosome breakage studies for Fanconi syndrome were normal

Conclusion: The differential diagnosis included VACTERL with hydrocephalus, Townes-Brock, Currarino, Pallister-Hall syndromes and Fanconi anaemia. This patient has no known syndrome. BPC has been reported with biliary atresia in one boy, but not with ectopic anus. There has been little mention of BPC in the genetic literature. It is thought to be a sporadic abnormality with no significant recurrence risk for siblings.


Whitehall JS1,2, Allgood C1,2, Legendre M3, Burgess T4, Edwards MJ1,2, Chin R1,2, Dunstan R1,2, Freelander M1,2, Amselem S3, Morgan L5, Pervez T1

1Department of Paediatrics, School of Medicine, University of Western Sydney

2Department of Paediatrics, Campbelltown Hospital

3U.F. de Génétique, moléculaire, Hôpital Armand Trousseau, Paris, France

4Molecular Cytogenetics, Victorian Clinical Genetics Services, Murdoch Children's Research, Institute

5Department of Thoracic Medicine, Concord Hospital

Background: PCD is an autosomal recessive disease with disrupted ciliary structure and/or function in several organs, including chronic sinopulmonary disease. 50% of patients have situs inversus/dextrocardia because of random determination of situs. A full term boy weighing 3725 gm after an uncomplicated pregnancy had Apgar scores of 9/1 and 9/5. His parents were first cousins of Lebanese ancestry. His P6G9 mother had a cousin with dextrocardia. He had mucopurulent rhinorrhoea and tachypnoea treated with oxygen from age 31 hours for 7 days. Chest X ray showed dextrocardia and situs inversus.

Methods: Nasal cilia were obtained using a cytology brush. Ciliary motility was assessed via light microscopy and photometry; ciliary ultrastructure was assessed using electron microscopy. Illumina HumanCoreExome – 12 v1.1 was used for the SNP microarray. Sanger sequencing of LRRC6 coding exons and flanking intronic sequences.

Results: All cilia were completely immotile with a deficiency of inner and outer dynein arms. A younger brother with chronic lung disease of prematurity had normal ciliary structure and function: SNP microarray identified long contiguous stretches of homozygosity (LCSH) in him, a 12-year-old unaffected brother, and the proband with PCD. Autozygosity mapping identified unique regions of homozygosity in the proband. One of these included the LRRC6 gene (chromosome 8q23.3-q24.3), whose mutations were found in 2012 to cause ciliary dyskinesia1. Sequencing identified a homozygous or hemizygous c.230dupA (p.Asn77Lysfs*3) mutation in exon 3. Both parents were heterozygous for the mutation.

Conclusion: SNP array is a very effective method for identifying areas of homozygosity that simplify the search for mutations in consanguineous families with autosomal recessive diseases.


1. Kott E, Duquesnoy P et al. (2012). Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet. 91(5):958964