mds-pas video presentation chantale branson, m.d. boston university medical center
TRANSCRIPT
MDS-PAS Video Presentation
Chantale Branson, M.D.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 clumsiness• Slow movements of the head• Brief and non-repetitive movements of his arms• Suppressible • Worsen during stress• Unable to play hockey
History
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.
Differential Diagnosis
Friedreich AtaxiaAtaxia with oculomotor apraxia type 1Vitamin E deficiencySpastic Ataxia of Charlevoix-SaguenayChediak-Higashi Syndrome Ataxia telangiectasiaMarinesco-Sjogren syndrome
Ataxia with oculomotor Apraxia type II
Clinical Features● Second decade● Progressive ataxia ● slow saccades● sensorimotor neuropathy with arreflexia ● extensor plantar response● Severe cerebellar atrophy ● Moderately elevated alpha-fetoprotein ● Genetic analysis of the SETX gene
Continuum (Minneap Minn) 2013;19(5):1312–1343.
MRI of cerebellar atrophy
AcknowledgementsAnna DePold Hohler, M.D. Associate Professor of Neurology, Assistant Dean, Office of Academic Affairs
James Otis, M.D. Associate Professor of Neurology Director, Residency Program
Marie 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