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  • 标题:A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
  • 本地全文:下载
  • 作者:Lee, Narae ; Nam, Sang-Ook ; Kim, Young Mi
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2016
  • 卷号:59
  • 期号:Suppl 1
  • 页码:S32-S36
  • DOI:10.3345/kjp.2016.59.11.S32
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Joubert syndrome (JS) is characterized by the “molar tooth sign” (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS. Neck MRI showed no definite lesion or mass around the cervical sympathetic chain. His global development was delayed. He underwent ophthalmologic surgery, and showed some improvement in his ptosis. To the best of our knowledge, the association of HS with JS has not yet been described. We suggest that early neuroimaging should be considered for neonates or young infants with diverse eye abnormalities to evaluate the underlying etiology.

  • 关键词:Joubert syndrome; Horner syndrome; Ptosis; Anisocoria
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