Bio

Bio


Child neurologist and medical geneticist focusing on the diagnosis and management of rare neurologic disorders. Specific interests are in genetic epilepsy syndromes, childhood neurodegenerative and neurometabolic diseases and undiagnosed suspected genetic conditions.

Clinical Focus


  • Neurology - Child Neurology
  • Neurogenetics
  • Medical Genetics

Academic Appointments


Professional Education


  • Fellowship:Stanford University School of Medicine Registrar (2017) CA
  • Board Certification: Neurology - Child Neurology, American Board of Psychiatry and Neurology (2016)
  • Fellowship:University of California - San Francisco (2015) CA
  • Residency:University of California - San Francisco (2012) CA
  • Medical Education:New York University School of Medicine (2010) NY

Publications

All Publications


  • Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy. American journal of medical genetics. Part A Hollander, S. A., Alsaleh, N., Ruzhnikov, M., Jensen, K., Rosenthal, D. N., Stevenson, D. A., Manning, M. 2017; 173 (6): 1687-1689

    Abstract

    Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy. Concordant findings of nystagmus, vision loss, and developmental delay were noted in both twins. Additional discordant findings included obesity and signs of insulin resistance in one twin. Genetic testing on one sibling confirmed AS. These twins underscore the importance of considering AS in any child presenting with DCM, particularly in infancy, and highlights that, even in monozygotic twins, the clinical course of AS is variable with regard to both the cardiac and non-cardiac manifestations of the disease.

    View details for DOI 10.1002/ajmg.a.38200

    View details for PubMedID 28407410