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 cran...
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2011/262641 |
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| author | Harjinder Gill Brinda Muthusamy Denize Atan Cathy Williams Matthew Ellis |
| author_facet | Harjinder Gill Brinda Muthusamy Denize Atan Cathy Williams Matthew Ellis |
| author_sort | Harjinder Gill |
| collection | DOAJ |
| description | 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 presentation triggered review of the sisters’ visual behaviour. Each had developed an unusual but similar form of oculomotor apraxia (OMA) with head thrusts to maintain fixation rather than to change fixation. MRI of the older sibling demonstrated the characteristic “molar tooth sign” (MTS) of Joubert syndrome which was subsequently confirmed on MRI in the younger sibling. We discuss the genetically heterogeneous ciliopathies now grouped as Joubert syndrome and Related Disorders. Clinicians need to consider this group of disorders when faced with unusual eye movements in the developmentally delayed child. |
| format | Article |
| id | doaj-art-e6da0aa496b849ff9f9b3f62f23dab09 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-e6da0aa496b849ff9f9b3f62f23dab092025-02-03T00:59:55ZengWileyCase Reports in Pediatrics2090-68032090-68112011-01-01201110.1155/2011/262641262641Joubert Syndrome Presenting with Motor Delay and Oculomotor ApraxiaHarjinder Gill0Brinda Muthusamy1Denize Atan2Cathy Williams3Matthew Ellis4Community Paediatrics, The Children's Hospital, Oxford University Hospitals, Headley Way, Headington, Oxford OX3 9DU, UKPaediatric Ophthalmology and Adult Strabismus, The Wilmer Eye Institute at Johns Hopkins, 600 North Wolfe Street, Baltimore, MD 21287, USAAcademic Department of Ophthalmology, School of Clinical Sciences, Bristol Eye Hospital, Lower Maudlin Street, Bristol BS1 2LX, UKCentre for Child and Adolescent Health, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UKCentre for Child and Adolescent Health, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UKWe 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 presentation triggered review of the sisters’ visual behaviour. Each had developed an unusual but similar form of oculomotor apraxia (OMA) with head thrusts to maintain fixation rather than to change fixation. MRI of the older sibling demonstrated the characteristic “molar tooth sign” (MTS) of Joubert syndrome which was subsequently confirmed on MRI in the younger sibling. We discuss the genetically heterogeneous ciliopathies now grouped as Joubert syndrome and Related Disorders. Clinicians need to consider this group of disorders when faced with unusual eye movements in the developmentally delayed child.http://dx.doi.org/10.1155/2011/262641 |
| spellingShingle | Harjinder Gill Brinda Muthusamy Denize Atan Cathy Williams Matthew Ellis Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia Case Reports in Pediatrics |
| title | Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia |
| title_full | Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia |
| title_fullStr | Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia |
| title_full_unstemmed | Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia |
| title_short | Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia |
| title_sort | joubert syndrome presenting with motor delay and oculomotor apraxia |
| url | http://dx.doi.org/10.1155/2011/262641 |
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