好色先生

好色先生

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Abstract Details

The Stiff Child
Neurotoxicology
IN1 - (-)
004
Reports of pediatric-onset SMS are rare.
Review records of patients presenting with SMS, symptom-onset before 18 years (in the period 1997-2012). Baseline clinical and serological characteristics and outcomes are presented, with longitudinal follow-up obtained by telephone or clinic review.
We identified 7 patients with childhood-onset SMS, representing 5% of SMS patients evaluated at Mayo Clinic. Four were girls. Median symptom-onset age was 11 years (range, 1-14). Four patients were not diagnosed until adulthood (median symptom duration at diagnosis, 13 years; range, 0-46 years). Presenting symptoms included lower extremity stiffness or spasms, 5 patients; gait abnormalities, 3; falls, 2; diaphragmatic spasms, 1; back pain 1; exaggerated startle (confirmed electrophysio-logically), 1. SMS phenotypes encountered were: classic, 4 (involving low back and lower extremities), variant, 3 (limited to 1 limb [with dystonic posture] or back, 2; progressive encephalomyelitis with rigidity, 1). Coexisting neurologic disorders included neuropathy and myopathy, 1 and epilepsy, 1. Prior (mis)diagnoses included 1 each of generalized dystonia and parkinsonism, functional movement disorder and hereditary spastic paraparesis. Six patients had a coexisting autoimmune disorder: type 1 diabetes mellitus, 5; thyroid disease; 3; vitiligo, 2. No cancer was identified in the follow-up period (median, 12 months; range 1-36 months). Serology revealed: GAD65 antibody in all patients (median value, 754 nmol/L; range, 0.06-3847 nmol/L; normal value 0.00-0.02 nmol/L) and glycine receptor antibody in 2 of 4 patients tested. Improvements were noted with symptomatic therapy (diazepam, 4/5; oral baclofen, 3/3) and/or immunotherapy (IVIG, 3/4 and plasmapheresis, 2/3). At last follow-up, 2 patients had mild symptoms, but 5 had moderate or severe residual symptoms and required maintenance symptomatic therapy (5) and immunotherapy (4).
SMS is an under-recognized, persistent but treatable disorder that may have childhood-onset. Serological and electrophysiological testing aid diagnosis.
Authors/Disclosures
Stacey Clardy, MD, PhD, FAAN (University of Utah)
PRESENTER 		Dr. Clardy has received personal compensation for serving as an employee of Veterans Health Administration (VHA). Dr. Clardy has received personal compensation for serving as an employee of University of Utah Health. Dr. Clardy has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AstraZeneca/Alexion. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amgen/Horizon. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Arialys. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kyverna. Dr. Clardy has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neurology/AAN Publications. The institution of Dr. Clardy has received research support from NIH/NINDS. The institution of Dr. Clardy has received research support from SRNA. The institution of Dr. Clardy has received research support from Alexion/AstraZeneca. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving as a AAN Summer Meeting CoDirector Travel and Lodging with AAN. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving as a Grand Rounds Travel/Lodging/Honoraria with U of Iowa, Miami, Stanford, Barrow, Beaumont Health, CCF, Emory, Penn State, Mayo Clinic, Walter Reed.
Sean J. Pittock, MD, FAAN (Mayo Clinic Dept of Neurology) Dr. Pittock has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB. Dr. Pittock has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Arialys Therapeutics. The institution of Dr. Pittock has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Pittock has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Arialys. The institution of Dr. Pittock has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB. The institution of Dr. Pittock has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche/Genentech. The institution of Dr. Pittock has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Alexion/AstraZeneka. The institution of Dr. Pittock has received research support from NIH. The institution of Dr. Pittock has received research support from Alexion/AstraZeneka. The institution of Dr. Pittock has received research support from F. Hoffman/LaRoche/Genentech. Dr. Pittock has received intellectual property interests from a discovery or technology relating to health care. Dr. Pittock has received intellectual property interests from a discovery or technology relating to health care. Dr. Pittock has received publishing royalties from a publication relating to health care.
Josep O. Dalmau, MD, PhD, FAAN Dr. Dalmau has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Astellas Research Institute of America. Dr. Dalmau has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen Research & Development . Dr. Dalmau has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for 好色先生. An immediate family member of Dr. Dalmau has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Springer Nature. The institution of Dr. Dalmau has received research support from Sage Therapeutics. The institution of Dr. Dalmau has received research support from Edmond J.Safra Foundation . The institution of Dr. Dalmau has received research support from La Caixa Foundation. The institution of Dr. Dalmau has received research support from Spanish Ministry of Health (ISCIII). The institution of Dr. Dalmau has received research support from Euroimmun, Inc. Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Dalmau has received intellectual property interests from a discovery or technology relating to health care. Dr. Dalmau has received publishing royalties from a publication relating to health care. Dr. Dalmau has received publishing royalties from a publication relating to health care. Dr. Dalmau has received publishing royalties from a publication relating to health care.
H. R. Jones, Jr., MD (Lahey Clinic Medical Center) No disclosure on file
Makoto Akimoto No disclosure on file
Deborah L. Renaud, MD No disclosure on file
C. M. Harper, MD, FAAN (Mayo Clinic) Dr. Harper has nothing to disclose.
Joseph Y. Matsumoto, MD (University of Minnesota) Dr. Matsumoto has nothing to disclose.
Vanda Lennon, MD, PhD (Mayo Clinic) The institution of Dr. Lennon has received research support from NIH. Dr. Lennon has received intellectual property interests from a discovery or technology relating to health care.
Andrew McKeon, MD (Mayo Clinic) The institution of Dr. McKeon has received research support from National Institutes of Health. Dr. McKeon has received intellectual property interests from a discovery or technology relating to health care. Dr. McKeon has received intellectual property interests from a discovery or technology relating to health care. Dr. McKeon has received publishing royalties from a publication relating to health care.