Joubert syndrome surviving to adulthood associated with a progressive movement disorder.
Identifieur interne : 002755 ( PubMed/Checkpoint ); précédent : 002754; suivant : 002756Joubert syndrome surviving to adulthood associated with a progressive movement disorder.
Auteurs : Steven A. Gunzler [États-Unis] ; A Jon Stoessl ; Robert A. Egan ; Richard G. Weleber ; Paul Wang ; John G. NuttSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Age Factors, Ataxia (complications), Ataxia (diagnosis), Ataxia (physiopathology), Cerebellum (abnormalities), Cognition Disorders (complications), Cognition Disorders (diagnosis), Disease Progression, Extrapyramidal Tracts (physiopathology), Facies, Humans, Hypokinesia (complications), Hypokinesia (diagnosis), Hypokinesia (physiopathology), Magnetic Resonance Imaging, Male, Middle Aged, Nystagmus, Pathologic (complications), Nystagmus, Pathologic (physiopathology), Oculomotor Nerve Diseases (complications), Severity of Illness Index, Speech Disorders (complications), Syndrome.
- MESH :
- abnormalities : Cerebellum.
- complications : Ataxia, Cognition Disorders, Hypokinesia, Nystagmus, Pathologic, Oculomotor Nerve Diseases, Speech Disorders.
- diagnosis : Ataxia, Cognition Disorders, Hypokinesia.
- physiopathology : Ataxia, Extrapyramidal Tracts, Hypokinesia, Nystagmus, Pathologic.
- Age Factors, Disease Progression, Facies, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Severity of Illness Index, Syndrome.
Abstract
A 48-year-old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide-based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs.
DOI: 10.1002/mds.21263
PubMed: 17149728
Affiliations:
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<term>Cerebellum (abnormalities)</term>
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<front><div type="abstract" xml:lang="en">A 48-year-old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide-based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs.</div>
</front>
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<Abstract><AbstractText>A 48-year-old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide-based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs.</AbstractText>
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