Aicardi Syndrome: A Case Report

Authors

  • L.D. Sauciuc Clinical Emergency Children’s Hospital of Brasov, Romania
  • A.C. Albeanu Clinical Emergency Children’s Hospital of Brasov, Romania
  • C. Otelea Clinical Emergency Children’s Hospital of Brasov, Romania
  • B. Popovici Transilvania University of Brasov, Romania
  • O. Falup-Pecurariu Clinical Emergency Children’s Hospital of Brasov, Transilvania University of Brasov, Romania

DOI:

https://doi.org/10.31926/but.ms.2019.61.12.1.3

Keywords:

Aicardi syndrome, corpus callosum, infantile spasms, abnormalities

Abstract

Aicardi is a rare and sporadic syndrome characterized by agenesis or dysgenesis of corpus callosum, infantile spasms and chorioretinal lacunae [5]. This syndrome is supposed to be due to a X-linked spontaneous, monogenic mutation [16]. We report a 3 month-old girl with agenesis of corpus callosum, infantile spasms, ocular abnormalities and other complex malformations.

Author Biographies

B. Popovici, Transilvania University of Brasov, Romania

Faculty of Medicine

O. Falup-Pecurariu, Clinical Emergency Children’s Hospital of Brasov, Transilvania University of Brasov, Romania

Faculty of Medicine

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Published

2019-07-19

Issue

Vol. 12(61) No. 1 (2019)

Section

MEDICAL SCIENCES