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"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Karin B.N. Hoang, AB

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Ronald J. Tusa, MD, PhD

Bascom Palmer Eye Institute, University of Miami College of Medicine Miami, FL

Anthony A. Mancuso, MD

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Latif M. Hamed, MD

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Ronald G. Quisling, MD

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Martin T. Hove, MD

Bascom Palmer Eye Institute, University of Miami College of Medicine Miami, FL

Eileen B. Fennell, PhD

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Margaret Booth-Jones, PhD

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Deborah M. Ringdahl, ARNP

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Anthony T. Yachnis, MD

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Gwen Creel, PT

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Beth Frerking, PT

Departments of Pediatrics, Radiology, Ophthalmology, Clinical and Health Psychology, Pathology, and Physical Therapy at the University of Florida College of Medicine and Shands Hospital, Gainesville

Joubert syndrome is characterized by episodic hyperpnea and apnea, developmental delay, hypotonia, truncal ataxia, ophthalmologic abnormalities, and vermian dysgenesis. We studied 15 patients with the diagnosis of Joubert syndrome to (1) more fully define the syndrome's clinical features, and (2) correlate the clinical features with magnetic resonance imaging (MRI) findings. Eight of 15 patients had a history of episodic hyperpnea and apnea. All patients had developmental delay and hypotonia. Of the 13 patients receiving detailed neuro-ophthalmologic evaluations, three had optic nerve dysplasia, pendular nystagmus, and gaze-holding nystagmus. All 13 patients had a normal vestibulo-ocular reflex based on head thrust, but had absent to poor ability to cancel the vestibulo-ocular reflex horizontally and vertically. Twelve of 13 patients had impaired smooth pursuit. Twelve of 13 patients had defects in initiation of saccades and quick phases. Two of the most consistent radiologic features were absent or hypoplastic posterior cerebellar vermis, and deformed midbrain and pontomesencephalic junction, which based on ocular motor physiology correlate with the vestibulo-ocular reflex cancellation/pursuit defect and saccade initiation defect, respectively As a result of midbrain, vermian, and superior cerebellar peduncle abnormalities, axial neuroimaging showed a unique "molar tooth" appearance of these structures. These results indicate that Joubert syndrome results from maldevelopment of the midbrain and cerebellar vermis, producing a pathognomonic sign on MRI. (J Child Neurol 1997;12:423-430).

Journal of Child Neurology, Vol. 12, No. 7, 423-430 (1997)
DOI: 10.1177/088307389701200703


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