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Case Report: Aicardi Syndrome presenting as Cleft Lip and Palate

Author

Listed:
  • Danielle Weidman

    (Paediatric Resident, The Hospital for Sick Children, University of Toronto, Canada)

  • Pablo Appendino

    (Department of Pediatrics, University of Calgary, Canada)

Abstract

Aicardi syndrome (AS) is an unusual neurological disorder that was originally described in 1965 by Dr. Jean Aicardi. This disorder is characterized by a triad of abnormalities: agenesis of the corpus callosum, chorio retinal lacunae, and infantile spasms. There are infrequent reports of cleft lip and palate in patients with AS. This report details a case of a patient with AS who presented with left-sided cleft lip and palate and right eye coloboma to her pediatrician; however, the diagnosis of AS was not suspected until later when the she presented with Infantile Spasms. The discussion will focus on the existing literature of AS with cleft lip and palate and ophthalmological findings offering a learning point to the pediatric community in regards with her clinical, neuroimaging and neurophysiological findings for an earlier and appropriate diagnosis.

Suggested Citation

  • Danielle Weidman & Pablo Appendino, 2017. "Case Report: Aicardi Syndrome presenting as Cleft Lip and Palate," Open Access Journal of Neurology & Neurosurgery, Juniper Publishers Inc., vol. 3(5), pages 81-83, May.
    • Handle: RePEc:adp:joajnn:v:3:y:2017:i:5:p:81-83
    DOI: 10.19080/OAJNN.2017.03.555625
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