Korean J Pediatr.  2016 Nov;59(Suppl 1):S32-S36. 10.3345/kjp.2016.59.11.S32.

A neonate with Joubert syndrome presenting with symptoms of Horner syndrome

• Lee N
• Nam SO
• Kim YM
• Lee YJ

• KMID: 2362250
• DOI: http://doi.org/10.3345/kjp.2016.59.11.S32

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.

Keyword

Joubert syndrome; Horner syndrome; Ptosis; Anisocoria

MeSH Terms

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