73. Developmental Hip abnormalities in paediatric CMT

73. Developmental Hip abnormalities in paediatric CMTDamian Clark, Monique Ryan

Royal Children’s Hospital, VIC

Charcot-Marie-Tooth disease (CMT) affects 1 in 2 500 children.Common orthopaedic complications of CMT include pes cavus andscoliosis. Developmental hip abnormalities are seen in a proportionof patients but their incidence and pathogenesis is poorly under-stood. We reviewed clinical findings and hip X-rays in a large cohortof children with CMT in order to determine the incidence and sever-ity of hip abnormalities in this population. These findings will beused to establish hip screening guidelines in children diagnosed withinherited neuropathies.

doi:10.1016/j.jocn.2010.07.074

74. Intravenous lignocaine infusion for prolonged, resistantheadacheJessica Dyson a, Andrew R Hughes b, Christian Lueck b

a Australian National University, ACTb The Canberra Hospital and Australian National University, ACT

Objective: Intravenous infusion of lignocaine is often used in neu-rological practice to treat prolonged, resistant headache despite thelack of evidence of benefit from randomised controlled trials. Never-theless, some concern remains regarding its safety. We thereforeperformed a retrospective chart review of our centre’s experienceover a 2 year period.

Methods: Single-centre retrospective chart review of patientstreated with lignocaine infusions at The Canberra Hospital from 1/7/05 to 30/06/07, inclusively. Data collected included type of head-ache, efficacy of treatment, and any adverse events.

Results: Twenty-one infusions were given to 15 patients over thetwo year period. Seventeen of the infusions were for a diagnosis ofmigraine or status migrainosus. Complete pain relief occurred in48%, partial relief in 38%, but 14% reported no improvement. Twoinfusions were terminated due to minor side effects. No majoradverse events were recorded.

Conclusion: Our data suggest that lignocaine infusions may wellbe an effective treatment for prolonged resistant headache. Wefound that it was well tolerated and had minimal side effects. How-ever, a prospective randomised controlled trial is required to demon-strate its effectiveness.

doi:10.1016/j.jocn.2010.07.075

75. Transient ischaemic attack mimic secondary to acute con-vexity subarachnoid haemorrhageDeborah K Field a, Timothy J. Kleinig b

a Flinders Medical Centre, SAb Royal Adelaide Hospital, SA

Transient ischaemic attack (TIA) mimics are important to iden-tify, as misdiagnosis can lead to inappropriate management as wellas exposing patients to unnecessary risks and costs. Convexity sub-arachnoid haemorrhage (SAH) has recently been recognised as acause of recurrent aura-like symptoms and TIA mimic. Recurrentaura-like episodes occur in cerebral amyloid angiopathy (CAA) andthis condition has been the cause or presumed cause in the majorityof reported cases. It has been postulated that subarachnoid blood

triggers cortical spreading depression with subsequent aura. Wedescribe 2 patients who presented with recurrent stereotyped tran-sient neurological symptoms, in the setting of acute convexity SAH.In one patient SAH occurred secondary to central venous sinusthrombosis. In the other, SAH was due to extension of a traumaticsubdural haematoma. Amyloid angiopathy is not a necessary pre-condition for cortical SAH to cause recurrent TIA-like episodes.

doi:10.1016/j.jocn.2010.07.076

76. Susac’s syndrome responds to the Tumour Necrosis Factor(TNF) inhibitor, infliximabTodd A. Hardy, Roger Garsia, G. Michael Halmagyi, Simon J.G. Lewis,Brian Harrisberg, Michael Fullham, Michael Barnett

Concord Hospital, NSW

Susac’s syndrome is the clinical triad of encephalopathy, branchretinal artery occlusions and sensorineural hearing loss. It is believedto be an immune-mediated endotheliopathy of small vessels. Wereport a 23 year-old female who presented with a seventeen-dayhistory of retro-bulbar headache, photophobia and vomiting on abackground of recent termination of pregnancy. Her initial examina-tion revealed encephalopathy without fever or meningism. She dete-riorated rapidly with worsening cognition, drowsiness, urinaryincontinence and a generalized seizure. Brain MRI showed multiplefoci of restricted diffusion and abnormal T2 signal in the deep whitematter and right corpus callosum. In addition, there were nodularareas of leptomeningeal enhancement, particularly over the cerebel-lum. CSF contained 8 lymphocytes and markedly elevated protein(2.9 g/L). Relevant infective and autoimmune investigations werenegative. PET showed marked hypermetabolism in the right cerebel-lar hemisphere and left parahippocampal gyrus. Brain biopsyrevealed mild, non-specific perivascular inflammation. Sheresponded well to corticosteroids but further deteriorated and, forthe first time, complained of deafness and tinnitus. Audiometryshowed bilateral moderate low frequency hearing loss. Ophthalmicexamination and fluoroscein angiography revealed branch retinalarterial occlusions in both eyes confirming Susac’s syndrome. Thepatient exhibited dramatic improvement within twenty-four hoursafter receiving a single dose of the tumour necrosis factor (TNF)inhibitor monoclonal antibody, infliximab (5 mg/kg). She was subse-quently treated with intravenous immunoglobulin, cyclophospha-mide, aspirin and nifedipine with sustained benefits at fourmonths. This is the first report that infliximab may be a usefuladjunct to existing therapy in Susac’s syndrome.

doi:10.1016/j.jocn.2010.07.077

77. Respiratory involvement in inherited neuropathies inchildrenKatherine B. Howell, Manuel Soto Martinez, Damian Clark, JohnMassie, Monique M. Ryan

Royal Children’s Hospital VIC

Children with severe neuromuscular disorders are at risk ofrestrictive lung disease. The frequency and severity of this complica-tion in children with inherited neuropathies is unknown. We under-took a clinical audit aiming to understand the extent and spectrumof, and risk factors for, respiratory impairment in inherited neurop-athies in children. Children with a genetically confirmed and/or clin-

1632 Abstracts / Journal of Clinical Neuroscience 17 (2010) 1610–1638