Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
نویسندگان
چکیده
منابع مشابه
Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention. The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cranial MRI no diagnosis was reached. The birth of her younger sister four years later with a similar...
متن کاملErratum to: Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report
This corrects the article on p. 126 in vol. 12, PMID: 26541496.
متن کاملAtaxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report.
Dear Editor, Ataxia with oculomotor apraxia type I (AOA1) is a recessively inherited ataxic disorder that is characterized clinically by the childhood onset of progressive cerebellar ataxia, oculomotor apraxia (OMA), and peripheral axonal sensorimotor neuropathy.1 Dystonia, chorea, and cognitive impairment are commonly associated symptoms, and hypoalbuminemia and hypercholesterolemia are often ...
متن کاملJoubert Syndrome Presenting With Normal Pyramidal Decussation: A Case Report
Joubert syndrome (JS) is a rare genetic disorder characterized by a congenital malformation of the hindbrain, and accompanied by axonal decussation abnormalities affecting the corticospinal tract and the superior cerebellar peduncles. To the best of our knowledge, there are no reports of normal pyramidal decussation in JS. Here, we describe the case of an 18-year-old boy presenting midline-cros...
متن کاملApraxia and Motor Dysfunction in Corticobasal Syndrome
BACKGROUND Corticobasal syndrome (CBS) is characterized by multifaceted motor system dysfunction and cognitive disturbance; distinctive clinical features include limb apraxia and visuospatial dysfunction. Transcranial magnetic stimulation (TMS) has been used to study motor system dysfunction in CBS, but the relationship of TMS parameters to clinical features has not been studied. The present st...
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ژورنال
عنوان ژورنال: Case Reports in Pediatrics
سال: 2011
ISSN: 2090-6803,2090-6811
DOI: 10.1155/2011/262641