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.
- 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™