Irish Journal of Medical Science Abstracts of the ...

Irish Journal of Medical Science Abstracts of the Irish Paediatric Association May 2005 Volume 174 Issue 2 e3 LONG CHAIN FATTY ACID OXIDATION DEFECTS IN PAEDIATRIC PRACTICE: IMPORTANCE OF ASCERTAINMENT AND TREATMENT OPTIONS B. Hayes, A. Murphy, S Ryski, B Lynch, E.P. Treacy Childrens University Hospital,Temple Street, Dublin. Mitochondrial β oxidation has a major role in energy production particularly during fasting. More than 20 enzyme and transport defects of mitochondrial oxidation of saturated fatty acids are known. Long chain fatty acid oxidation defects include deficiency of the trifunctional protein (rare) or more commonly defects of the long chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD). These long chain defects have variable presentations, they may present in the neonate or infant with sudden death, hepatopathy (Reyes Disease), hypoketotic hypoglycaemia, rhabdomyolysis, myopathy, cardiomyopathy and late complications such as peripheral neuropathy, pigmentary retinopathy, retinal degeneration and progressive visual loss. The correct ascertainment at presentation is not only life saving but allows for the appropriate dietary and other intervention with other therapeutic agents such as supplementation with Docosohanoic Acid (DHA ) which may have major effects on outcome. We present 3 cases of long chain fatty acid oxidation defects ascertained in our practice who have shown significant benefits from treatment: Case 1. Female, currently aged 15 years. Presented at 4 months of age with vomiting, lethargy, hepatomegaly and non-ketotic hypoglycaemia.Hypertrophic cardiomyopathy was noted at 6 months of age. LCHAD was subsequently diagnosed with homozygosity for the common LCHAD mutation G1328C. Cardiomyopathy resolved with dietary intervention (low fat, high carbohydrate diet, unwell regime). At 14 years of age manifestations included pigmentary retinopathy, progressive visual loss. DHA was started at 14 years resulting in stabilizing of visual function. Case 2. Female currently aged 14 years. She presented at 8 weeks of age. Referred for screening for a possible fatty acid oxidation defect as a sibling died following an acute collapse at 8 weeks of age. She subsequently had a metabolic decompensation and respiratory arrest with a viral infection. DNA analysis subsequently demonstrated heterozygosity for the LCHAD mutation (G1528C). Cardiomyopathy and pigmentary retinopathy were present at age 5 months. She has had recurrent episodes of rhabdomyolysis Peripheral neuropathy is currently evident. She has had intensive dietary intervention since diagnosis and is now progressing well. Case 3. Male currently aged 12 years. He presented at aged 15 months with muscle weakness and delayed motor milestones. Ataxia was noted at 6 years of age. The initial symptoms were suggestive of hereditary sensory motor neuropathy. At age 10 he had an acute episode of rhabdomyolysis, CK 26,000 with hallucinations. Enzymatic analysis demonstrated a moderate trifunctional protein deficiency, and a mutation of the B subunit (341 A→G). During the last 6 months he has shown marked improvement in mobility and general strength with a low fat diet, medium chain fat and DHA supplementation. In summary these 3 cases illustrate the clinical heterogeneity of Long Chain Fatty Acid Oxidation Defects and opportunities for effective management if ascertained.

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Irish Journal of Medical Science Abstracts of the Irish Paediatric Association May 2005 Volume 174 Issue 2 e3 ADMINISTRATION OF INTRAMUSCULAR BENZYLPENICILLIN IN CASES OF PAEDIATRIC MENINGITISARE WE GIVING THE JAB??? Drew RJ, Weerakoon G, Anas S, Sharif F Department of Paediatric Medicine, Health Service Executive, Midland Area, Midland Regional Hospital, Mullingar, Co. Westmeath BACKGROUND Meningitis can be a potentially fatal disease and early recognition and management is essential 1. Long term it can have a serious adverse effect on a child’s development. If meningitis is contracted during infancy it can cause a ten-fold increase in the risk of moderate or severe learning impairment by five years of age 2. The administration of benzylpenicillin before transfer to hospital has been shown to be of benefit 3. However, previous studies have shown that only 85% of general practitioners actually carry parenteral benzylpenicillin in their emergency bags 4. An earlier trial has shown an administration rate of 32% in cases of paediatric meningococcal disease; and on further analysis it was shown that the administration rate was 82% in cases referred to as “meningococcal disease” by the GP and only 20% in cases referred to as “meningitis” 5. METHOD This was a retrospective review of all cases of diagnosed meningitis (both bacterial and viral) between January 2000 and December 2004 and these were reviewed to determine the pre-hospital administration rate of intramuscular benzylpenicillin and the rate of transfer to hospital by ambulance. These charts were then reviewed using a standard questionnaire sheet and the transfer letter from the general practitioner was also reviewed. Only children who were referred by a general practitioner were included in the analysis. The headings under which the charts and letters were reviewed were age of presentation, symptoms and signs, administration of benzylpenicillin, ambulance transfer and microbial results (e.g. PCR, CSF and blood cultures etc.) RESULTS In total there were 75 cases of meningitis identified, of which 26 (34.6%) were bacterial and 49 (65.4%) were viral. Out of these charts, 67 (89.3%) could be traced with an average age of 55 months. Forty-four of the 67 (65.6%) had been referred by general practitioners. In only four (13.3%) of the 30 transfer letters had the word “meningitis” actually been mentioned. All of these children had been given parenteral benzylpenicillin and half of them had been transferred to hospital by ambulance. Of these 44 cases, twenty (45.5%) had bacterial meningitis and 24 (54.4%) had viral meningitis. In total only seven (15.9%) children were given intramuscular benzylpenicillin, five had bacterial meningitis and two had viral meningitis. With respect to ambulance transfer, only five (11.3%) of the 44 children were transferred by ambulance. Eighty percent of these were cases of bacterial meningitis and eighty percent were also given intramuscular benzylpenicillin. CONCLUSION 5 The rate of administration of intramuscular benzylpenicillin in our study was broadly similar to that of the UK . While the administration rate was 100% in cases were the GP wrote the word “meningitis”, only 20% of children with confirmed bacterial meningitis referred by GPs had received pre-hospital antibiotics. This suggests that in overt cases of meningitis antibiotics were being given, but a large number of cases of meningitis were not being initially treated as meningitis. These children therefore were not receiving the needed intramuscular benzylpenicillin. Reference: 1. Heydermen et al. J. infection 2003; 46: 75-77 5. FAI Riordan et al. BMJ 1996;313:1255-6 2. H Bedford et al. BMJ 2001; 323:1-5 3. 4.

K Cartwright et al. BMJ 1992; 305: 143-7 4. MJ Colbridge et al. BMJ 1995; 310:29-30

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Irish Journal of Medical Science Abstracts of the Irish Paediatric Association May 2005 Volume 174 Issue 2 e3 PANDAS (PAEDIATRIC AUTOIMMUNE NEUROPSYCHIATRIC DISORDER ASSOCIATED WITH STREPTOCOCCAL INFECTION): CASE REPORT SUPPORTING THE ROLE OF TONSILLECTOMY IN TREATMENT Lynch N, Mc Menamin J, Deiratany S, Kelly VB Department of Neurology, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12 Presentation: A six-year-old boy presented with a short history of right sided facial weakness, a facial tic and erratic right upper limb movements, particularly on exertion. He had previously been well, apart from a history of sore throat ten days before the onset of symptoms. Investigations: MRI brain revealed a subtle area of increased signal in the centrum semi-ovale on the left. This was not thought to be of high significance. MR angiogram was normal. Given the history of sore throat anti- streptolysin O titres and anti- DNAse B levels were checked. Both were significantly elevated at 640 (n=200) and 360 (n=240) respectively. Throat culture yielded a light growth of beta-haemolytic Group A Streptococcus. Management: The boy was treated with a course of oral penicillin, and there was a complete resolution of symptoms. Following discharge, he had one further episode of symptoms associated with an intercurrent streptococcal throat infection which was again treated with oral penicillin. He subsequently had a tonsillectomy, and has had no further symptoms. Discussion: A diagnosis of PANDAS (Paediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection) was made in this boy as he fulfilled the diagnostic criteria. The diagnostic criteria for PANDAS1 are: 1. Presence of OCD or tic disorder, or both 2. Paediatric onset 3. Episodic course with abrupt onset of symptoms or dramatic exacerbations 4. Temporal association between exacerbations and group A beta haemolytic strep (GABHS) infections 5. Association with neurological abnormalities during symptom exacerbations The role of penicillin prophylaxis for PANDAS is doubtful2 and immunomodulatory therapy such as plasma exchange or intravenous immunoglobulin3 have been criticised for being risky and invasive. Two papers in the literature support tonsillectomy as having a role in PANDAS. Both describe siblings with OCD or tics and recurrent GABHS infections who respond to tonsillectomy.4’5 We present a patient who responded dramatically to penicillin treatment at his initial presentation, had another episode associated with GABHS infection, and has had a complete resolution of symptoms following tonsillectomy.

1 Swedo et al: Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections: Clinical description of the First 50 Cases. Am J Psychiatry. 1998 Feb;155(2):264-71 2 Garvey MA, Perlmutter SJ, Allen AJ. A pilot study of penicillin prophylaxis for neuropsychiatric exacerbations triggered by streptococcal infections. Biol Psychiatry 1999;45(12):1564-71 3 Perlmutter SJ et al. Therapeutic plasma exchange and intravenous immunoglobulin for obsessive compulsive disorder and tic disorders in childhood. Lancet 1999 Oct 2;354(9185):1153-8. 4 Heubi C, Shott SR. PANDAS: pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections--an uncommon, but important indication for tonsillectomy. Int J Pediatr Otorhinolaryngol. 2003 Aug;67(8):837-40. 5 Orvidas LJ, Slattery MJ. Pediatric autoimmune neuropsychiatric disorders and streptococcal infections: role of otolaryngologist. Laryngoscope. 2001 Sep;111(9):1515-9 3

Irish Journal of Medical Science Abstracts of the Irish Paediatric Association May 2005 Volume 174 Issue 2 e3 SEVERE ANAEMIA WITH INTACT SURVIVAL SECONDARY TO MASSIVE FETOMATERNAL HAEMORRHAGE J.S. Woodside, C.W.B. Corkey Department of Paediatrics,Daisy Hill Hospital,Newry. INTRODUCTION Massive fetomaternal haemorrhage defined as more than 150ml fetal red blood cells in maternal blood is rare but has perinatal mortality rate of up to 40% and risk of neurological sequelae amongst survivors. We report two cases with intact survival. CASE REPORT Both infants were born at term to Rhesus positive mothers by emergency caesarian section due to decreased fetal movements and unfavourable CTGs. Both had good apgar scores but were noted to be very pale on delivery. The first infant had a cord haemoglobin of 4.6g/dl & responded well to blood transfusion. He went on to develop acute tubular necrosis on day 2 life which settled spontaneously with conservative management. The second infant had a cord haemoglobin of 2.57g/dl & also made a rapid recovery with blood transfusion. She developed no further problems. Maternal Kleihauer estimated a fetomaternal haemorrhage of 800ml which was not felt to be an accurate count. Both infants are showing no signs of any long term sequelae at follow up with normal growth and development. DISCUSSION From literature searches our second case would seem to be amongst one of the lowest reported haemoglobins with intact survival. Ladhani & Fox report a case with intact survival and a haemoglobin of 2g/dl. It is not known how low a haemaglobin a fetus can tolerate but it is known they can tolerate an acute blood loss of 40% of their blood volume. Massive fetomaternal haemorrhage can have devastating consequences and more information is needed on the long term outcome of survivors. REFERENCES 1.Ladhani S, Fox G. Massive foetomaternal haemorrhage associated with favourable outcome after two years. Acta Paediatr 91:983-985.2002 2.Giacoia G P. Severe fetomaternal hemorrhage:a review. Obstet Gynecol Surv 1997;52:372-80.

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Irish Journal of Medical Science Abstracts of the Irish Paediatric Association May 2005 Volume 174 Issue 2 e3 SCREENING FOR PATENT DUCTUS ARTERIOSUS IN 24-30 WEEK INFANTS M. WALSH1, 2D COLEMAN, W. GORMAN1, J. MURPHY1, A. TWOMEY1 1 National Maternity Hospital, Holles st. Dublin 2 2 Cardiac Department, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 2 Background : Eighty percent of preterm infants with hyaline membrane disease will have a duct that is patent during the first four post natal days, however only about a third of these infants will develop a shunt large enough to cause symptoms. We typically look for bounding pulses and a murmur however these can be absent in 15% and 20% of cases respectively. Also it has been shown that the clinical signs of a duct can lag up to 72 hours behind the echocardiographic features. The degree of constriction of the duct in the first few postnatal hours predicts persistent patency. It also predicts other morbidities including pulmonary haemorrhage and IVH. It has been shown that it is possible to accurately predict ductal patency by performing an echocardiogram in the first 48 hours of life, by experienced neonatal echocardiographers. Aims : The aim of this study is to perform an echocardiogram on all infants 114. Mean GA 29.9wks, mean BW 1188g. A striking finding was that 31 (86%) were girls. Being attentive, cooperative, enthusiastic, organised and methodical were universal characteristics for these bright children. The cognitive parameter Mental Developmental Index (MDI) results were Mean 121 (Range 115-138) showed greater acceleration than the motor one Psychomotor Developmental Index (PDI) Mean 105 (Range 77-129). Conclusions: Our findings show that VLBW infants can be bright. Most are girls. The neonatal factors that contribute to their accelerated development give an insight into what aspects of neonatal care are likely to be important for longterm outcome.

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Irish Journal of Medical Science Abstracts of the Irish Paediatric Association May 2005 Volume 174 Issue 2 e3 NEURODEVELOPMENTAL OUTCOME OF NEONATAL HYPOGLYCAEMIA IN A TERTIARY LEVEL NEONATAL UNIT. Healy F, White MJ Department of Neonatology, Coombe Women’s Hospital, Dublin. Aims The objective of this study was to review the short and intermediate term outcomes of cases of neonatal hypoglycaemia admitted to our neonatal unit under a particular service over a 30 month period (January 2001-June 2003). Methods Patient charts were studied retrospectively, recording gestation, birth weight, apgars, cause of hypoglycaemia, management and duration of admission. All follow up neurodevelopmental assessments were noted up to June 2003. Results 73 infants were admitted with true blood glucose