A case of Joubert syndrome with abnormal eye-movement

DOI 33 References
  • Sunami Kishiko
    Department of Otolaryngology, Graduate School of Medicine, Osaka City University
  • Yamamoto Hidefumi
    Department of Otolaryngology, Graduate School of Medicine, Osaka City University
  • Koshimo Naomi
    Department of Otolaryngology, Osaka City General Hospital
  • Yamane Hideo
    Department of Otolaryngology, Graduate School of Medicine, Osaka City University
  • Hattori Eiji
    Department of Pediatrics, Graduate School of Medicine, Osaka City University

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Other Title
  • Ｊｏｕｂｅｒｔ症候群の一例―眼球運動障害についての検討―

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Abstract

Joubert syndrome is a rare autosomal recessive disorder characterized by a specific congenital malformation of the cerebellar vermis. Diagnostic criteria for it include hypotonia, ataxia, episodic hyperpnoea, psychomotor delay, abnormal eye-movement, and the molar tooth sign on magnetic resonance imaging (MRI). We present a 12-month-old boy with Joubert syndrome referred to our hospital because of vertigo. On equilibrium examination, he exhibited left-beating gaze nystagmus, and right-beating horizontal nystagmus, up-beating nystagmus, and alternating nystagmus with a torsional component on positional nystagmus examination. Saccades were preceded by slow eye movement ending with a glissade, and were followed by postsaccadic drift. His smooth pursuit to the left was saccadic, and optokinetic nystagmus gains were reduced. Three months later, his symptoms gradually resolved, his gaze nystagmus nearly disappeared, and only right-beating nystagmus on positional examination was detected.

Journal

  • Equilibrium Research

    Equilibrium Research 70 (1), 23-29, 2011

    Japan Society for Equilibrium Research

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