Lee Narae, Nam Sang-Ook, Kim Young Mi, Lee Yun-Jin
Department of Pediatrics, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Korea.
Department of Pediatrics, Pusan National University Hospital, Busan, Korea.
Korean J Pediatr. 2016 Nov;59(Suppl 1):S32-S36. doi: 10.3345/kjp.2016.59.11.S32. Epub 2016 Nov 30.
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.
乔伯特综合征（JS）的特征为“磨牙征”（MTS），伴有小脑蚓部发育不全、发作性呼吸急促、异常眼球运动和肌张力减退。眼部和眼球运动异常已被观察到；然而，JS患儿中尚未有霍纳综合征（HS）的记录。我们报告一例2个月大男孩，有眼部异常，表现为双侧眼球震颤、以左侧为主的双侧上睑下垂以及左眼单侧瞳孔缩小和眼球内陷，符合HS。脑部磁共振成像（MRI）显示存在MTS。颈部MRI显示颈交感神经链周围无明确病变或肿块。其整体发育延迟。他接受了眼科手术，上睑下垂有一定改善。据我们所知，HS与JS的关联尚未见报道。我们建议，对于有各种眼部异常的新生儿或幼儿，应考虑早期进行神经影像学检查以评估潜在病因。
