42. Distal aortic occlusion presenting as an acute paraplegia
1
1 Menzies Research Institute, University of Tasmania, Hobart, Australia 2 Murdoch Children’s Research Institute, University of Melbourne, Melbourne, Australia 3 Faculty of Medicine (Neurology), University of British Columbia, Vancouver, Canada Introduction: Previous studies have shown a protective associa- tion between Vitamin D and the onset of Multiple Sclerosis (MS) but the effect on MS clinical course has been little studied. Among peo- ple with Relapsing-Remitting Multiple Sclerosis (RRMS), various sea- sonal increases in the relapse rate have been reported. We recently observed that, at the population level, the monthly relapse rate was lower in late summer and that higher ambient ultraviolet radi- ation was associated with a reduced monthly relapse rate 1.5 months after, consistent with a role for UVR-generated Vitamin D. At the individual level however, no study has investigated whether Vitamin D levels have an effect on clinical manifestations of MS. Our aim here was to investigate the association of Vitamin D on indi- vidual relapse rates. Methods: A cohort of 142 participants (106 Female, 36 Male) with clinically-definite RRMS living in Southern Tasmania was fol- lowed prospectively from 2002-2005. Levels of serum 25-hydroxyvi- tamin D 3 (25OHD) were measured at biannual review and from these, 25OHD values at the midpoint of each interval were estimated using a sinusoidal model. The associations between 25OHD and re- lapse rates were measured using random-effects Poisson regression. All associations were adjusted for age, gender, pregnancy and use of immunomodulatory medications. Results: There was a strong and statistically significant dose- dependent protective effect of 25OHD on individual relapse rates, with a 9.6% reduction (95%CI: 1.4-17.2%) in relapse rates per 10nmol/L increase in serum 25OHD levels (p = 0.023). For those with 25OHD levels at or above 40nmol/L, relapse rates were 33.6% lower (95%CI: 1.4-55.3%) relative to those with 25OHD below this level (p = 0.043) and for those at or above 80nmol/L, relapse rates were 56.8% lower (95%CI: 11.7-78.8%) relative to lower levels (p = 0.021). Conclusions: These data show for the first time that there is a strong inverse prospective association between 25OHD levels and subsequent relapse rates among people with RRMS. doi:10.1016/j.jocn.2009.07.065 41. Novel mutation in the CLCN1 gene causing myotonia con- genita (Thomsen’s disease) Kumar Kishore 1 , Ng Karl 1 , Vandebona Himesha 1 , Laing Nigel 3 , Sue Carolyn 1,2 1 Department of Neurology, Royal North Shore Hospital, Sydney, Australia 2 Department of Neurogenetics, Royal North Shore Hospital, Sydney, Australia 3 Molecular Neurogenetics, Royal Perth Hospital, Perth, Australia Background: Myotonia congenita is a neuromuscular condition that causes symptoms of muscle stiffness. It is typically associated with mutations in the muscle chloride channel gene (CLCN1). Aim: To report a 61 year old man with myotonia congenita and a novel mutation in the CLCN1 gene. Case History: A 61 year old man complained of muscle stiffness involving the hands and legs since childhood which improved with activity. He also noticed that after he gripped an object forcefully he had trouble letting go. For example, he would have trouble releas- ing his grip from the oars after rowing. On examination, he had a myopathic facies and percussion myotonia involving the abductor pollicis brevis muscles. There was evidence of muscular atrophy par- ticularly involving the posterior compartment of the right lower leg. Electromyography demonstrated short-lasting discharges akin to complex repetitive discharges. Standard nerve conduction, low fre- quency repetitive stimulation, and long and short exercise tests including the cooling test were within normal limits. There was intermittent mild elevation of creatine kinase. Results: DNA was extracted from blood and direct sequencing identified a novel heterozygous G to A nucleotide substitution at po- sition 1652 in exon 15 of the CLCN1 gene. This mutation changes a highly conserved amino acid glycine to aspartic acid at codon 551. Conclusions: We conclude that this novel chloride channel mutation has caused myotonia congenita in this patient. Further studies on additional family members would help to assess the path- ogenicity of this mutation. doi:10.1016/j.jocn.2009.07.066 42. Distal aortic occlusion presenting as an acute paraplegia Hardy Todd, Teisseyre Marcin, Shaffi Mohamed Neurology Department, Nepean Hospital, Penrith, NSW, Australia Aortic disease is an uncommon but nevertheless important cause of lower limb neurological presentations. We report a case of an 87 year old ex-smoker who presented with the sudden onset of bilateral lower limb weakness and paraesthesia associated with severe lower back pain radiating to the thighs and urinary retention. Prior to pre- sentation, he was living and mobilising independently at home. His only medical history was of hypertension and an appendicectomy more than fifty years ago. Examination revealed a flaccid paraparesis with absent lower limb reflexes and downgoing plantars. His sensory examination showed a sensory level to both light touch and pin- prick to the mid-thighs. Proprioception was impaired in the great toes. In addition, his feet were cool to touch with delayed capillary return. His femoral, popliteal and pedal pulses were absent. An ECG showed sinus rhythm. Urgent MRI of the whole spine showed no spinal cord or cauda equina pathology. A CT angiogram of the chest and abdomen revealed an infrarenal aortic aneurysm and com- plete occlusion of the distal aorta with only minor collateral flow dis- tally. There was no evidence of aortic dissection. Unfortunately, his condition evolved over several hours in the emergency department resulting in complete paralysis of the lower limbs. After consultation with the vascular surgery team it was decided that the risk versus benefit profile of surgical intervention was too great and he was managed palliatively, dying in hospital two weeks later. Our case demonstrates the importance of considering aortic pathology in pre- sentations of neurological problems involving the lower limbs. It also highlights the need for urgent surgical referral in these patients which may alter prognosis. doi:10.1016/j.jocn.2009.07.067 43. Substantial Under-Provision of TIA Services in New Zealand Wallace Brownlee 1 , Lucy Fergus 1 , John Gommans 2 , John Fink 3 , P Alan Barber 1 1 Department of Neurology, Auckland City Hospital, Auckland, New Zealand Abstracts / Journal of Clinical Neuroscience 16 (2009) 1514–1546 1539
-
Upload
todd-hardy -
Category
Documents
-
view
214 -
download
0
Transcript of 42. Distal aortic occlusion presenting as an acute paraplegia
1 Menzies Research Institute, University of Tasmania, Hobart, Australia2 Murdoch Children’s Research Institute, University of Melbourne,Melbourne, Australia3 Faculty of Medicine (Neurology), University of British Columbia,Vancouver, Canada
Introduction: Previous studies have shown a protective associa-tion between Vitamin D and the onset of Multiple Sclerosis (MS) butthe effect on MS clinical course has been little studied. Among peo-ple with Relapsing-Remitting Multiple Sclerosis (RRMS), various sea-sonal increases in the relapse rate have been reported. We recentlyobserved that, at the population level, the monthly relapse ratewas lower in late summer and that higher ambient ultraviolet radi-ation was associated with a reduced monthly relapse rate 1.5months after, consistent with a role for UVR-generated Vitamin D.At the individual level however, no study has investigated whetherVitamin D levels have an effect on clinical manifestations of MS.Our aim here was to investigate the association of Vitamin D on indi-vidual relapse rates.
Methods: A cohort of 142 participants (106 Female, 36 Male)with clinically-definite RRMS living in Southern Tasmania was fol-lowed prospectively from 2002-2005. Levels of serum 25-hydroxyvi-tamin D3 (25OHD) were measured at biannual review and fromthese, 25OHD values at the midpoint of each interval were estimatedusing a sinusoidal model. The associations between 25OHD and re-lapse rates were measured using random-effects Poisson regression.All associations were adjusted for age, gender, pregnancy and use ofimmunomodulatory medications.
Results: There was a strong and statistically significant dose-dependent protective effect of 25OHD on individual relapse rates,with a 9.6% reduction (95%CI: 1.4-17.2%) in relapse rates per10nmol/L increase in serum 25OHD levels (p = 0.023). For those with25OHD levels at or above 40nmol/L, relapse rates were 33.6% lower(95%CI: 1.4-55.3%) relative to those with 25OHD below this level(p = 0.043) and for those at or above 80nmol/L, relapse rates were56.8% lower (95%CI: 11.7-78.8%) relative to lower levels (p = 0.021).
Conclusions: These data show for the first time that there is astrong inverse prospective association between 25OHD levels andsubsequent relapse rates among people with RRMS.
doi:10.1016/j.jocn.2009.07.065
41. Novel mutation in the CLCN1 gene causing myotonia con-genita (Thomsen’s disease)
Kumar Kishore 1, Ng Karl 1, Vandebona Himesha 1, Laing Nigel 3, SueCarolyn 1,2
1 Department of Neurology, Royal North Shore Hospital, Sydney,Australia2 Department of Neurogenetics, Royal North Shore Hospital, Sydney,Australia3 Molecular Neurogenetics, Royal Perth Hospital, Perth, Australia
Background: Myotonia congenita is a neuromuscular conditionthat causes symptoms of muscle stiffness. It is typically associatedwith mutations in the muscle chloride channel gene (CLCN1).
Aim: To report a 61 year old man with myotonia congenita and anovel mutation in the CLCN1 gene.
Case History: A 61 year old man complained of muscle stiffnessinvolving the hands and legs since childhood which improved withactivity. He also noticed that after he gripped an object forcefullyhe had trouble letting go. For example, he would have trouble releas-ing his grip from the oars after rowing. On examination, he had a
myopathic facies and percussion myotonia involving the abductorpollicis brevis muscles. There was evidence of muscular atrophy par-ticularly involving the posterior compartment of the right lower leg.Electromyography demonstrated short-lasting discharges akin tocomplex repetitive discharges. Standard nerve conduction, low fre-quency repetitive stimulation, and long and short exercise testsincluding the cooling test were within normal limits. There wasintermittent mild elevation of creatine kinase.
Results: DNA was extracted from blood and direct sequencingidentified a novel heterozygous G to A nucleotide substitution at po-sition 1652 in exon 15 of the CLCN1 gene. This mutation changes ahighly conserved amino acid glycine to aspartic acid at codon 551.
Conclusions: We conclude that this novel chloride channelmutation has caused myotonia congenita in this patient. Furtherstudies on additional family members would help to assess the path-ogenicity of this mutation.
doi:10.1016/j.jocn.2009.07.066
42. Distal aortic occlusion presenting as an acute paraplegia
Hardy Todd, Teisseyre Marcin, Shaffi Mohamed
Neurology Department, Nepean Hospital, Penrith, NSW, Australia
Aortic disease is an uncommon but nevertheless important causeof lower limb neurological presentations. We report a case of an 87year old ex-smoker who presented with the sudden onset of bilaterallower limb weakness and paraesthesia associated with severe lowerback pain radiating to the thighs and urinary retention. Prior to pre-sentation, he was living and mobilising independently at home. Hisonly medical history was of hypertension and an appendicectomymore than fifty years ago. Examination revealed a flaccid paraparesiswith absent lower limb reflexes and downgoing plantars. His sensoryexamination showed a sensory level to both light touch and pin-prick to the mid-thighs. Proprioception was impaired in the greattoes. In addition, his feet were cool to touch with delayed capillaryreturn. His femoral, popliteal and pedal pulses were absent. AnECG showed sinus rhythm. Urgent MRI of the whole spine showedno spinal cord or cauda equina pathology. A CT angiogram of thechest and abdomen revealed an infrarenal aortic aneurysm and com-plete occlusion of the distal aorta with only minor collateral flow dis-tally. There was no evidence of aortic dissection. Unfortunately, hiscondition evolved over several hours in the emergency departmentresulting in complete paralysis of the lower limbs. After consultationwith the vascular surgery team it was decided that the risk versusbenefit profile of surgical intervention was too great and he wasmanaged palliatively, dying in hospital two weeks later. Our casedemonstrates the importance of considering aortic pathology in pre-sentations of neurological problems involving the lower limbs. It alsohighlights the need for urgent surgical referral in these patientswhich may alter prognosis.
doi:10.1016/j.jocn.2009.07.067
43. Substantial Under-Provision of TIA Services in New Zealand
Wallace Brownlee 1, Lucy Fergus 1, John Gommans 2, John Fink 3,P Alan Barber 1
1 Department of Neurology, Auckland City Hospital, Auckland, NewZealand
Abstracts / Journal of Clinical Neuroscience 16 (2009) 1514–1546 1539
