新生児生物学ジャーナル

概要

Agenesis of the Corpus Callosum Associated with a large Ocular Lipodermoid in a Neonate: A Case Report and Literature Review

Hsing-Chen Tsai, Yu-Chih Hou, Steven Shinn-Forng Peng, Huan-Chun Lien, Hung-Chieh Chou, Chien-Yi Chen, Wu-Shiun Hsieh1 and Po- Nien Tsao

Agenesis of the corpus callosum is the most common brain malformation. It may be an isolated malformation or a component of a malformation syndrome. Associated Central Nervous System (CNS) and non-CNS malformations have been broadly reviewed. However, the coexistence of a large ocular lipodermoid has never been mentioned. We reported a female newborn with multiple congenital anomalies, including complete agenesis of the corpus callosum with intracranial midline lipoma, a large epibulbar lipodermoid over the entire left cornea and a large Ventricular Septal Defect (VSD). No clinical neurological or cardiac symptoms or signs were noted during admission. She received an ocular tumor excision with amniotic membrane transplantation on the left eye at 10 days old. Limbal dermoids/lipodermoids are hallmarks of Goldenhar syndrome; however, our patient did not have preauricular tag, microtia, or vertebral anomalies. In addition, a chromosome study and comparative genomic hybridization array in this patient revealed no significant abnormalities. To the best of our knowledge, this is the first report of a case with a combination of agenesis of the corpus callosum, an ocular lipodermoid, and VSD.