ume at day 90. Use of an earlier assessment has the potential toexpedite trials and reduce loss to follow-up.

doi:10.1016/j.jocn.2010.07.069

69. Spontaneous intracranial hypotension in childhood: A casereport and review of the literatureEunice K. Chan a, Monique M. Ryan a,b, Bernard Yan c

a Children’s Neurosciences Centre, The Royal Children’s Hospital, VICb University of Melbourne, Murdoch Children’s Research Institute, VICc Melbourne Neurology Group, Faculty of Medicine, University ofMelbourne, VIC

Spontaneous intracranial hypotension results from one or morespontaneous spinal cerebrospinal fluid leaks, and generally presentswith severe and persisting orthostatic headache. Diagnosis can bedifficult as spontaneous intracranial hypotension is very rare inchildhood, and has a wide spectrum of clinical features and neuroim-aging findings. Lumbar autologous epidural blood patch can be help-ful for confirmation of diagnosis and symptom relief. We report a 15-year-old female with typical spontaneous intracranial hypotensionwho experienced immediate resolution of her symptoms followinglumbar autologous epidural blood patch on two occasions, andreview the literature on this well-recognized but probably under-diagnosed headache syndrome in childhood.

doi:10.1016/j.jocn.2010.07.070

70. A case series of intra-arterial embolectomy for acute ischemicstrokeFlorence C.F. Chang a, Tim Harrington a, Ken Faulder a, BrendenSteinfort a, Paul Silberstein a, Carolyn M. Sue a

a Royal North Shore Hospital, NSW

Introduction: Ischemic stroke due to internal carotid arteryocclusion is often refractory to intravenous thrombolysis and gener-ally has a poor outcome with high morbidity and mortality. Patientswith ischemic stroke due to middle cerebral artery stroke that isexcluded from intravenous thrombolysis also has a similar outcome.

Methods: We report a case series of four patients who presentedwith acute ischemic strokes and underwent intra-arterial embolec-tomy with favourable outcomes. All were excluded for intravenousthrombolysis due to either delayed time of presentation (>3 hours)or the presence of at least another exclusion criteria. Eligibility forintra-arterial embolectomy was determined by demonstrating amismatch on CT brain angiography and perfusion scans, thus identi-fying potentially salvageable tissue. Two patients had middle cere-bral artery embolus occlusion and two had internal carotid arteryembolus occlusion. We performed mechanical extraction of theembolus using a Solitaire device with or without penumbra endovas-cular device in selected patients.

Results: All patients had substantial improvement in their clinicalstatus with a mean NIHSS score of 9.5 (range 6–13 and SD = 2.8)before the procedure, a NIHSS score of 2 (range 1–3, SD = 0.8) at24 hours post procedure with a mean difference of 7.5 (range 4–11, SD = 2.8). Two patients developed small and clinically insignifi-cant revascularization hemorrhage.

Conclusion: Intra-arterial embolectomy seems to be a safe andrapid alternative method of vascular recanalization for treatment

of acute ischemic stroke due to embolic occlusion of the ICA/MCA.Further evaluation with randomized controlled trials is warranted.

doi:10.1016/j.jocn.2010.07.071

71. Case report on fatal familial insomnia associated with mye-lodysplasia due to chromosome 20q deletionFlorence C.F. Chang a, Yemima Berman a, Michael Buckland b, NaomiMackinlay a, Karl Ng a

a Royal North Shore Hospital, NSWb Pathology, School of Medical Sciences, University of Sydney, NSW

Fatal familial insomnia is an autosomal dominant neurodegener-ative disorder characterised by insomnia, rapidly progressivedementia, dysautonomia, myoclonus and pyramidal signs. We reporta 60 year old man who presented with an eight month history ofprogressive cognitive decline associated with dysautonomia, anae-mia, hyponatraemia due to syndrome of inappropriate ADH secre-tion, hypersomnia with oneiric behaviours, intermittent diplopia,gait disturbance, myoclonus and well formed visual hallucinations.The anaemia was secondary to myelodysplasia from a 20q chromo-some deletion. The patient’s prion protein genetic sequencingrevealed a D178N mutation on chromosome 20p with codon 129polymorphism that was homozygous for methionine, consistentwith a diagnosis of fatal familial insomnia. This was confirmed onpost-mortem examination of the brain which showed thalamic andinferior olivary nucleus atrophy with severe neuronal loss, gliosisand mild spongiosis, but lack of significant cortical spongiosis andnegative prion protein (3F4 and PrP) immunohistochemistry stain-ing. Hypothalamic changes were also present and may explainSIADH. The patient’s older sister also had rapidly progressive demen-tia with myoclonic jerks, hyponatraemia due to SIADH and anemia.There have been no previous cases described in the literaturebetween the association of prion gene mutation on chromosome20p, and 20q deletion leading to anaemia secondary to myelodyspla-sia. It is unclear if prion protein may have some role in the pathogen-esis of anaemia which appears acquired.

doi:10.1016/j.jocn.2010.07.072

72. Silver syndrome: A case reportDamian Clark, Monique Ryan

Royal Children’s Hospital, VIC

Silver syndrome, or distal hereditary motor neuropathy type V, isa rare dominantly inherited disorder caused by mutations in theBSCL2 gene. Silver syndrome causes a characteristic pattern of dis-tally-predominant upper extremity weakness and wasting, often inassociation with long-tract signs in the lower extremities. We pres-ent a case of Silver syndrome presenting with rapidly progressiveweakness and wasting of the hand musculature in a 13 year-oldboy. Examination revealed marked distal wasting of his hands, withless prominent wasting of the calves and early pes cavus. Sensationwas intact and deep tendon reflexes were universally brisk. Nerveconduction studies were consistent with a moderately severe senso-rimotor axonal neuropathy pattern. Genetic testing revealed thecommon S90L mutation in the BSCL2 gene.

doi:10.1016/j.jocn.2010.07.073

Abstracts / Journal of Clinical Neuroscience 17 (2010) 1610–1638 1631