Kim Keppler-Noreuil, MD

Expanded Phenotype & Developmental Mechanisms of TFE3-Related Neurodevelopmental Disorder with Dysmorphic Lysosomal Storage-Like Features

  • Identify characteristic clinical findings associated with lysosomal storage disorders and other disorders in their differential diagnosis.
  • Summarize the associated features of TFE3-related neurodevelopmental disorder.
  • Examine the pathogenetic mechanisms of TFE3 variants on lysosomal and mitochondrial functions.


Megan Berry, MD (Speaker)

Amy Blake Susnow, MD (Mentor)

Recurrent Stroke in a Six-Year-Old Girl

  • Summarize the recommended workup and differential diagnosis for children with recurrent stroke.
  • Compare the clinical presentation of this patient with the typical presentation for a child with MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes).
  • Summarize the leading hypotheses for the pathophysiology of MELAS.
  • Examine the acute and chronic management of a patient with MELAS.
Session date: 
10/04/2023 - 4:00pm to 5:00pm CDT
United States
  • 1.00 AMA PRA Category 1 Credit
  • 1.00 ANCC Contact Hours
  • 1.00 NSGC Category 1 CEU Contact Hours
  • 1.00 University of Wisconsin–Madison Continuing Education Hours
    • 1.00 Approved for AMA PRA Category 1 Credit™

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Discloser List CME Internal Report
Kim Keppler-Noreuil, MD
Amy Blake Susnow, MD
Megan Berry, MD (neuro resident)