P055 Adams Oliver syndrome with focal epileptiform EEG abnormalities

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    rhabdomyomas(CR) are included in the major features, andthey can lead to the early diagnosis of TSC.Methods: A group of 19 children diagnosed prenatally andpostnatally with CR between January 2000 to December2008 was analysed. All children underwent the followinginvestigations: neurological (including EEG), cardiological,ophtalmological, ultrasound investigation, and all of themhad brain MRI. A long-term neurological follow-up wasstarted. All examinations were focused on early detection ofTSC and its neurological complications, especially epilepsy.Results: 19 children, 9(47%) boys and 10(53%) girls, wereinvestigated. In 11(58%) children CR was diagnosed throughroutine prenatal screening, in 8(42%) children during theperinatal period. In 17(89%) children CRs were multiple, andin 2 (11%) cases they were single. Only 4(21%) children hadcardiac symptoms that necessitated therapy. Two (11%) ofthem required surgical resection of the tumor. TSC diagnosiswas conrmed in 17/19(89%) cases. TSC occurred in allpatients with multiple CR. 14/19(74%) patients developedepileptic seizures (onset of epilepsy between 5 days and 26months of their life).Conclusions:1. TSC diagnosis was conrmed in 89% children with CR.2. TSC occurred in all patients with multiple CR.3. Detailed neurological follow-up of all children with CR

    should start from a neonatal age.4. Epilepsy occurred in children with CR and TSC pre-

    dominantly within the rst 2 years of their life.5. We suggest the earlier start of the antiepileptic therapy will

    have a positive impact on cognitive development of theseTSC children.

    Acknowledgements: Supported by grantsVZMZ64203, IGANR/88893

    P055 Adams Oliver syndrome with focal epileptiform EEGabnormalities

    S. Alagoda1, M. Nagesh2,V. Murugan1 *, D. Allen3. 1Child Health,Southampton General Hospital, Southampton, United kingdom;2St Marys Hospital, Isle of Wight; 3Clinical Neurophysiology,Southampton General Hospital, Southampton, UK

    Background: Adams Oliver syndrome (AOS) is a raresyndrome characterised by aplasia cutis congenita and trans-verse limb abnormalities. Inheritance is usually autosomaldominant but more severe autosomal recessive cases, withCNS involvement have recently been reported. Seizures areassociated with AOS but the electroencephalographic (EEG)ndings are rarely reported in the literature.Case report: A two-year-old female was detected to have alarge scalp and skull defect over the vertex antenataly. Inaddition midline abdominal skin aplasia and characteristicupper and lower extremity abnormalities were noted. Thescalp and skull defect was managed conservatively, withoutcomplication and at 6 months the scalp lesion had healed.Wedemonstrate the antenatal, post-natal and one year followup MR Imaging and CT ndings. She has cognitive andmotor developmental delay. At the age of 18 months, whilstfebrile, she suffered a seizure. No additional underlying causeor intercurrent illness was identied. A convalescent EEGrevealed frequent inter-ictal focal spike wave discharges oververtex, in the region of the healed skull defect.Discussion: Involvement of CNS is rare but recognizedin the recessive form of AOS. Abnormalities includingperiventricular calcication, hypoplastic corpus callosum,microcephaly and epilepsy are described and are demon-strated in this case. Previously reported EEG ndings in theliterature have been normal or have shown non-specicslowing. In this case the underlying cortex at the vertexappeared anatomically normal. However the focality of theepileptiform discharges on EEG and their co-localisation with

    the congenital skull defect raise the possibility of primaryinvolvement of the underling cortex at this site, which mayhave pathophysiological signicance for the understandingof this disorder at the embryological level.Conclusion: This striking EEG pattern has not been describedbefore as a feature of AOS, which may have therapeuticimplications if seizures become intractable.

    P056 Neuroimaging in paediatrics: patterns of usage inmagnetic resonance imaging (MRI)

    L.C. Winckworth1 *, L.M. Bagshaw1, L. Mewasingh1.1Paediatrics, St Marys Hospital, London, United Kingdom;2Imperial NHS Healthcare Trust, London, United Kingdom

    Objectives: Despite i) an increase in demand for MRI by bothclinicians and patients and ii) greater availability of suchimaging, there remains little data on its patterns of use,especially in children.This retrospective study looked at paediatric referrals forbrain and spine MRIs in a tertiary university hospital servinga population of approximately 60,000 children.Methods: All brain and spine MRI scans of children youngerthan 17 years were reviewed over a 6 month period.Data collected included: age of patient, clinical details,the specialty of the referrer, source of the referral (wards,intensive care or outpatient setting) and results of theimaging.Results: A total of 180 separate brain and spine MRIs wereperformed during this period. Most were rst time scans,withonly 13% having had a previous MRI scan.Patient age had an effect on several variables:41% of scans were performed on inpatients, with an inversecorrelation with increasing agescan frequency had a bimodal age distribution, with peaksin children less than 1 year old and between 1115 yearsyield of abnormal scans (after adjustment for total number)showed a trimodal distribution

    38% of scans were abnormal, with the neonatal intensivecare unit having the highest positive predictive rate (76%).Inpatient scans were also more likely to be abnormal thanoutpatient ones (46% vs 33%).There were also differences in referral requests by thedifferent teams/specialists.Conclusions: By identifying trends in neuroimaging referralsand results, predictions can be made about the needs ofchildren as well as specialty areas with high demand forMRIs.This can help in the planning of both local and regionalresources.

    P057 Neurodevelopmental follow-up of children withcongenital kidney disease and chronic renal failure atschool age

    N. Hawellek1, L. Pape1, L. Hoy2, M. Wedekin1, T. Lucke1,S. Illsinger1, A.M. Das1, J.H.H. Ehrich1, H. Hartmann1 *.1Paediatric Nephrology, Hepatology und Metabolic Diseases,Hannover Medical School, Germany; 2Biomathematics, HannoverMedical School, Germany

    Background: Dialysis and transplantation nowadays arestandard therapy for renal failure in infancy. There is littleinformation about the long-term rehabilitation regardingneurodevelopment.Methods: 17 children (13 m, 4 f) with congenital kidneydisease and consecutive renal failure were examined at agesof 6.2 10.8 (mean 8.3) years. Underlying diseases were renaldysplasia (9/17), obstructive uropathy (5/17), and congenitalnephrotic syndrome (3/17). Nine of the 17 children were bornprematurely, 7/17 required articial ventilation during theneonatal period, 15/17 received a kidney transplant at ages


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