70. A case series of intra-arterial embolectomy for acute ischemic stroke

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

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

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.2010.07.069

doi:10.1016/j.jocn.2010.07.071

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

71. Case report on fatal familial insomnia associated with myelodysplasia due to chromosome 20q deletion Florence C.F. Chang a, Yemima Berman a, Michael Buckland b, Naomi Mackinlay a, Karl Ng a

a

Children’s Neurosciences Centre, The Royal Children’s Hospital, VIC University of Melbourne, Murdoch Children’s Research Institute, VIC c Melbourne Neurology Group, Faculty of Medicine, University of Melbourne, VIC b

Spontaneous intracranial hypotension results from one or more spontaneous spinal cerebrospinal fluid leaks, and generally presents with severe and persisting orthostatic headache. Diagnosis can be difficult as spontaneous intracranial hypotension is very rare in childhood, and has a wide spectrum of clinical features and neuroimaging findings. Lumbar autologous epidural blood patch can be helpful for confirmation of diagnosis and symptom relief. We report a 15year-old female with typical spontaneous intracranial hypotension who experienced immediate resolution of her symptoms following lumbar autologous epidural blood patch on two occasions, and review the literature on this well-recognized but probably underdiagnosed headache syndrome in childhood. doi:10.1016/j.jocn.2010.07.070

70. A case series of intra-arterial embolectomy for acute ischemic stroke Florence C.F. Chang a, Tim Harrington a, Ken Faulder a, Brenden Steinfort a, Paul Silberstein a, Carolyn M. Sue a a

Royal North Shore Hospital, NSW

Introduction: Ischemic stroke due to internal carotid artery occlusion is often refractory to intravenous thrombolysis and generally has a poor outcome with high morbidity and mortality. Patients with ischemic stroke due to middle cerebral artery stroke that is excluded from intravenous thrombolysis also has a similar outcome. Methods: We report a case series of four patients who presented with acute ischemic strokes and underwent intra-arterial embolectomy with favourable outcomes. All were excluded for intravenous thrombolysis due to either delayed time of presentation (>3 hours) or the presence of at least another exclusion criteria. Eligibility for intra-arterial embolectomy was determined by demonstrating a mismatch on CT brain angiography and perfusion scans, thus identifying potentially salvageable tissue. Two patients had middle cerebral artery embolus occlusion and two had internal carotid artery embolus occlusion. We performed mechanical extraction of the embolus using a Solitaire device with or without penumbra endovascular device in selected patients. Results: All patients had substantial improvement in their clinical status 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) at 24 hours post procedure with a mean difference of 7.5 (range 4– 11, SD = 2.8). Two patients developed small and clinically insignificant revascularization hemorrhage. Conclusion: Intra-arterial embolectomy seems to be a safe and rapid alternative method of vascular recanalization for treatment

a b

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

Fatal familial insomnia is an autosomal dominant neurodegenerative disorder characterised by insomnia, rapidly progressive dementia, dysautonomia, myoclonus and pyramidal signs. We report a 60 year old man who presented with an eight month history of progressive cognitive decline associated with dysautonomia, anaemia, hyponatraemia due to syndrome of inappropriate ADH secretion, hypersomnia with oneiric behaviours, intermittent diplopia, gait disturbance, myoclonus and well formed visual hallucinations. The anaemia was secondary to myelodysplasia from a 20q chromosome deletion. The patient’s prion protein genetic sequencing revealed a D178N mutation on chromosome 20p with codon 129 polymorphism that was homozygous for methionine, consistent with a diagnosis of fatal familial insomnia. This was confirmed on post-mortem examination of the brain which showed thalamic and inferior olivary nucleus atrophy with severe neuronal loss, gliosis and mild spongiosis, but lack of significant cortical spongiosis and negative prion protein (3F4 and PrP) immunohistochemistry staining. Hypothalamic changes were also present and may explain SIADH. The patient’s older sister also had rapidly progressive dementia with myoclonic jerks, hyponatraemia due to SIADH and anemia. There have been no previous cases described in the literature between the association of prion gene mutation on chromosome 20p, and 20q deletion leading to anaemia secondary to myelodysplasia. It is unclear if prion protein may have some role in the pathogenesis of anaemia which appears acquired. doi:10.1016/j.jocn.2010.07.072

72. Silver syndrome: A case report Damian Clark, Monique Ryan Royal Children’s Hospital, VIC Silver syndrome, or distal hereditary motor neuropathy type V, is a rare dominantly inherited disorder caused by mutations in the BSCL2 gene. Silver syndrome causes a characteristic pattern of distally-predominant upper extremity weakness and wasting, often in association with long-tract signs in the lower extremities. We present a case of Silver syndrome presenting with rapidly progressive weakness and wasting of the hand musculature in a 13 year-old boy. Examination revealed marked distal wasting of his hands, with less prominent wasting of the calves and early pes cavus. Sensation was intact and deep tendon reflexes were universally brisk. Nerve conduction studies were consistent with a moderately severe sensorimotor axonal neuropathy pattern. Genetic testing revealed the common S90L mutation in the BSCL2 gene. doi:10.1016/j.jocn.2010.07.073