Chantale Branson MD Boston University Medical Center A 17 year old right handed man presenting with involuntary upper torso movements and abnormal gait At 10 years of age the patient developed ID: 416727
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Slide1
MDS-PAS Video Presentation
Chantale Branson, M.D.Boston University Medical CenterSlide2
A 17 year old right handed man presenting
with involuntary upper torso movements and abnormal gait. At 10 years of age, the patient developed clumsinessSlow movements of the head
Brief and non-repetitive movements of his armsSuppressible Worsen during stressUnable to play hockey
History Slide3
Developmental History: Unremarkable
Review of Systems: He would often faint upon standing despite appropriate consumption of water daily.Family History: His younger sister began developing similar symptoms around the same age. His mother, father and maternal cousins are asymptomatic.Slide4Slide5Slide6Slide7Slide8
Differential Diagnosis
Friedreich AtaxiaAtaxia with oculomotor apraxia type 1Vitamin E deficiency
Spastic Ataxia of Charlevoix-SaguenayChediak-Higashi Syndrome Ataxia telangiectasiaMarinesco-Sjogren syndrome Slide9
Ataxia with oculomotor Apraxia type II
Clinical FeaturesSecond decade
Progressive ataxia slow saccadessensorimotor neuropathy with arreflexia
extensor plantar response
Severe cerebellar atrophy
M
oderately
elevated alpha-fetoprotein
Genetic analysis of the SETX gene
Continuum (Minneap
Minn
) 2013;19(5):1312–1343.Slide10
MRI of cerebellar atrophySlide11
Acknowledgements
Anna DePold Hohler
, M.D. Associate Professor of Neurology, Assistant Dean, Office of Academic AffairsJames Otis, M.D. Associate Professor of Neurology Director, Residency ProgramMarie Saint-Hilaire, M.D. Associate
Professor of Neurology at
BUMC, Director
of the Parkinson’s Disease and Movement Disorders Center and the APDA Center for Advanced Research at Boston University Medical
Center
Samuel Frank, M.D. Associate Professor of Neurology at Boston University Medical Center, Director of Clinical Care at Jamaica Plain VA Medical Center Dystonia Clinic
Samuel
Ellias
, M.D. Associate Professor of Neurology, Neurological Director, Deep Brain Stimulation Program at Boston University Medical Campus
Rafeal
Zuzuarregui
, M.D. Movement Disorder Fellow 2015, Boston University Medical Center
Anindita
Deb, M.D. Movement Disorder Fellow 2014, Boston University Medical Center
Keith J.
Ciccone
, BS, LPN, Nurse Coordinator of the Deep Brain Stimulation Program