"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation
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 (...
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Veröffentlicht in: | Journal of child neurology 1997-10, Vol.12 (7), p.423-430 |
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creator | Maria, Bernard L. Hoang, Karin B.N. Tusa, Ronald J. Mancuso, Anthony A. Hamed, Latif M. Quisling, Ronald G. Hove, Martin T. Fennell, Eileen B. Booth-Jones, Margaret Ringdahl, Deborah M. Yachnis, Anthony T. Creel, Gwen Frerking, Beth |
description | 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). |
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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).</description><identifier>ISSN: 0883-0738</identifier><identifier>EISSN: 1708-8283</identifier><identifier>DOI: 10.1177/088307389701200703</identifier><identifier>PMID: 9373798</identifier><identifier>CODEN: JOCNEE</identifier><language>eng</language><publisher>Thousand Oaks, CA: Sage Publications</publisher><subject>Adolescent ; Adult ; Apnea ; Behavior Rating Scales ; Brain ; Case Studies ; Cerebellar Ataxia - diagnosis ; Cerebellar Diseases - diagnosis ; Cerebellum - abnormalities ; Cerebellum - diagnostic imaging ; Check Lists ; Child ; Child Behavior ; Child Development ; Child, Preschool ; Developmental Delays ; Developmental Disabilities - physiopathology ; Eye Movements ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Measurement Techniques ; Memory ; Mesencephalon - abnormalities ; Mesencephalon - diagnostic imaging ; Motor Reactions ; Neuropsychology ; Parents ; Patients ; Psychomotor Skills ; Radiography ; Reflex, Vestibulo-Ocular ; Saccades ; Spatial Ability ; Syndrome ; Visual Acuity ; Visual Stimuli</subject><ispartof>Journal of child neurology, 1997-10, Vol.12 (7), p.423-430</ispartof><rights>Copyright Decker Periodicals, Inc. Oct 1997</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c396t-ac73d618317963ed5346623c08ae163978d3fcda56e6e3ce03a0f7dd3364553</citedby><cites>FETCH-LOGICAL-c396t-ac73d618317963ed5346623c08ae163978d3fcda56e6e3ce03a0f7dd3364553</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/088307389701200703$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/088307389701200703$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,780,784,21819,27924,27925,43621,43622</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9373798$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Maria, Bernard L.</creatorcontrib><creatorcontrib>Hoang, Karin B.N.</creatorcontrib><creatorcontrib>Tusa, Ronald J.</creatorcontrib><creatorcontrib>Mancuso, Anthony A.</creatorcontrib><creatorcontrib>Hamed, Latif M.</creatorcontrib><creatorcontrib>Quisling, Ronald G.</creatorcontrib><creatorcontrib>Hove, Martin T.</creatorcontrib><creatorcontrib>Fennell, Eileen B.</creatorcontrib><creatorcontrib>Booth-Jones, Margaret</creatorcontrib><creatorcontrib>Ringdahl, Deborah M.</creatorcontrib><creatorcontrib>Yachnis, Anthony T.</creatorcontrib><creatorcontrib>Creel, Gwen</creatorcontrib><creatorcontrib>Frerking, Beth</creatorcontrib><title>"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation</title><title>Journal of child neurology</title><addtitle>J Child Neurol</addtitle><description>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).</description><subject>Adolescent</subject><subject>Adult</subject><subject>Apnea</subject><subject>Behavior Rating Scales</subject><subject>Brain</subject><subject>Case Studies</subject><subject>Cerebellar Ataxia - diagnosis</subject><subject>Cerebellar Diseases - diagnosis</subject><subject>Cerebellum - abnormalities</subject><subject>Cerebellum - diagnostic imaging</subject><subject>Check Lists</subject><subject>Child</subject><subject>Child Behavior</subject><subject>Child Development</subject><subject>Child, Preschool</subject><subject>Developmental Delays</subject><subject>Developmental Disabilities - physiopathology</subject><subject>Eye Movements</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Measurement Techniques</subject><subject>Memory</subject><subject>Mesencephalon - abnormalities</subject><subject>Mesencephalon - diagnostic imaging</subject><subject>Motor Reactions</subject><subject>Neuropsychology</subject><subject>Parents</subject><subject>Patients</subject><subject>Psychomotor Skills</subject><subject>Radiography</subject><subject>Reflex, Vestibulo-Ocular</subject><subject>Saccades</subject><subject>Spatial Ability</subject><subject>Syndrome</subject><subject>Visual Acuity</subject><subject>Visual Stimuli</subject><issn>0883-0738</issn><issn>1708-8283</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkc1r3DAQxUVoSTdJ_4FCQeyhNyeSx9ZHb2Vp89GEQLbQo6tIs66CLSWSXdj_Pl52aSCBhDnM4f3eG4ZHyCfOjjmX8oQpBUyC0pLxkjHJYI_MuGSqUKWCd2S2AYoN8YEc5HzHGFO1ZvtkX4MEqdWM_JlfxPEW00CX6-BS7HFOb_Cfz35A95X-xDW9tmNnEr2KQ0x06duQ6W8__KVXpg04eDvxOQYTLNLz3rQ-tHQRU8LODD6GI_J-ZbqMH3f7kCx_fP-1OCsur0_PF98uCwtaDIWxEpzgCrjUAtDVUAlRgmXKIBegpXKwss7UAgWCRQaGraRzAKKqazgkX7ap9yk-jJiHpvfZYteZgHHMjdQV16pSb4Iln0ZAOYHzZ-BdHFOYXmjKkkFVA2zSyi1kU8w54aq5T743ad1w1mwqal5WNJk-75LH2x7df8uuk0k_2erZtPh09ZXER-tKl28</recordid><startdate>19971001</startdate><enddate>19971001</enddate><creator>Maria, Bernard L.</creator><creator>Hoang, Karin B.N.</creator><creator>Tusa, Ronald J.</creator><creator>Mancuso, Anthony A.</creator><creator>Hamed, Latif M.</creator><creator>Quisling, Ronald G.</creator><creator>Hove, Martin T.</creator><creator>Fennell, Eileen B.</creator><creator>Booth-Jones, Margaret</creator><creator>Ringdahl, Deborah M.</creator><creator>Yachnis, Anthony T.</creator><creator>Creel, Gwen</creator><creator>Frerking, Beth</creator><general>Sage Publications</general><general>SAGE PUBLICATIONS, INC</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>0-V</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88B</scope><scope>88E</scope><scope>88G</scope><scope>8A4</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8FQ</scope><scope>8FV</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ALSLI</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>CJNVE</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9-</scope><scope>K9.</scope><scope>M0P</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M3G</scope><scope>PQEDU</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7TK</scope><scope>7X8</scope></search><sort><creationdate>19971001</creationdate><title>"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation</title><author>Maria, Bernard L. ; Hoang, Karin B.N. ; Tusa, Ronald J. ; Mancuso, Anthony A. ; Hamed, Latif M. ; Quisling, Ronald G. ; Hove, Martin T. ; Fennell, Eileen B. ; Booth-Jones, Margaret ; Ringdahl, Deborah M. ; Yachnis, Anthony T. ; Creel, Gwen ; Frerking, Beth</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c396t-ac73d618317963ed5346623c08ae163978d3fcda56e6e3ce03a0f7dd3364553</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Apnea</topic><topic>Behavior Rating Scales</topic><topic>Brain</topic><topic>Case Studies</topic><topic>Cerebellar Ataxia - diagnosis</topic><topic>Cerebellar Diseases - diagnosis</topic><topic>Cerebellum - abnormalities</topic><topic>Cerebellum - diagnostic imaging</topic><topic>Check Lists</topic><topic>Child</topic><topic>Child Behavior</topic><topic>Child Development</topic><topic>Child, Preschool</topic><topic>Developmental Delays</topic><topic>Developmental Disabilities - physiopathology</topic><topic>Eye Movements</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Measurement Techniques</topic><topic>Memory</topic><topic>Mesencephalon - abnormalities</topic><topic>Mesencephalon - diagnostic imaging</topic><topic>Motor Reactions</topic><topic>Neuropsychology</topic><topic>Parents</topic><topic>Patients</topic><topic>Psychomotor Skills</topic><topic>Radiography</topic><topic>Reflex, Vestibulo-Ocular</topic><topic>Saccades</topic><topic>Spatial Ability</topic><topic>Syndrome</topic><topic>Visual Acuity</topic><topic>Visual Stimuli</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Maria, Bernard L.</creatorcontrib><creatorcontrib>Hoang, Karin B.N.</creatorcontrib><creatorcontrib>Tusa, Ronald J.</creatorcontrib><creatorcontrib>Mancuso, Anthony A.</creatorcontrib><creatorcontrib>Hamed, Latif M.</creatorcontrib><creatorcontrib>Quisling, Ronald G.</creatorcontrib><creatorcontrib>Hove, Martin T.</creatorcontrib><creatorcontrib>Fennell, Eileen B.</creatorcontrib><creatorcontrib>Booth-Jones, Margaret</creatorcontrib><creatorcontrib>Ringdahl, Deborah M.</creatorcontrib><creatorcontrib>Yachnis, Anthony T.</creatorcontrib><creatorcontrib>Creel, Gwen</creatorcontrib><creatorcontrib>Frerking, Beth</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Social Sciences Premium Collection</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Education Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Education Periodicals</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Canadian Business & Current Affairs Database</collection><collection>Canadian Business & Current Affairs Database (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Social Science Premium Collection</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Education Collection</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Education Database</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>CBCA Reference & Current Events</collection><collection>ProQuest One Education</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of child neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Maria, Bernard L.</au><au>Hoang, Karin B.N.</au><au>Tusa, Ronald J.</au><au>Mancuso, Anthony A.</au><au>Hamed, Latif M.</au><au>Quisling, Ronald G.</au><au>Hove, Martin T.</au><au>Fennell, Eileen B.</au><au>Booth-Jones, Margaret</au><au>Ringdahl, Deborah M.</au><au>Yachnis, Anthony T.</au><au>Creel, Gwen</au><au>Frerking, Beth</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation</atitle><jtitle>Journal of child neurology</jtitle><addtitle>J Child Neurol</addtitle><date>1997-10-01</date><risdate>1997</risdate><volume>12</volume><issue>7</issue><spage>423</spage><epage>430</epage><pages>423-430</pages><issn>0883-0738</issn><eissn>1708-8283</eissn><coden>JOCNEE</coden><abstract>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).</abstract><cop>Thousand Oaks, CA</cop><pub>Sage Publications</pub><pmid>9373798</pmid><doi>10.1177/088307389701200703</doi><tpages>8</tpages></addata></record> |
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subjects | Adolescent Adult Apnea Behavior Rating Scales Brain Case Studies Cerebellar Ataxia - diagnosis Cerebellar Diseases - diagnosis Cerebellum - abnormalities Cerebellum - diagnostic imaging Check Lists Child Child Behavior Child Development Child, Preschool Developmental Delays Developmental Disabilities - physiopathology Eye Movements Female Humans Infant Magnetic Resonance Imaging Male Measurement Techniques Memory Mesencephalon - abnormalities Mesencephalon - diagnostic imaging Motor Reactions Neuropsychology Parents Patients Psychomotor Skills Radiography Reflex, Vestibulo-Ocular Saccades Spatial Ability Syndrome Visual Acuity Visual Stimuli |
title | "Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation |
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