A neonate with Joubert syndrome presenting with symptoms of Horner syndrome.
10.3345/kjp.2016.59.11.S32
- Author:
Narae LEE
1
;
Sang Ook NAM
;
Young Mi KIM
;
Yun Jin LEE
Author Information
1. Department of Pediatrics, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Korea. jinnyeye@hanmail.net
- Publication Type:Case Report
- Keywords:
Joubert syndrome;
Horner syndrome;
Ptosis;
Anisocoria
- MeSH:
Anisocoria;
Brain;
Cerebellar Vermis;
Child;
Enophthalmos;
Eye Abnormalities;
Eye Movements;
Horner Syndrome*;
Humans;
Infant;
Infant, Newborn*;
Magnetic Resonance Imaging;
Male;
Miosis;
Muscle Hypotonia;
Neck;
Neuroimaging;
Tooth
- From:Korean Journal of Pediatrics
2016;59(Suppl 1):S32-S36
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
