The molar tooth sign and the bat wing appearance in Joubert syndrome
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Clinical and Biomedical Research |
Texto Completo: | https://seer.ufrgs.br/index.php/hcpa/article/view/76065 |
Resumo: | A 10-year-old female patient was brought to the outpatient clinic with a history of neurodevelopmental delay, gait and limb incoordination, and oculomotor apraxia. According to her parents, the girl had always showed delayed acquisition of motor milestones when compared to other children, which became more evident when she was 8 months old and was not able to sit. She was able to sit by age of 2, and walked independently, but unsteady, when she was 3.5 years old. She presented with cognitive impairment. Reviewing her history, it became clear that she was hypotonic at birth and subsequently developed gait ataxia in early childhood. She was born to nonconsanguineous parents and there were no other similar cases in her family.On physical examination, she held her head preferentially in a lateralized position to her right side. She showed gait ataxia in tandem walking, abnormal stance with a positive Romberg’s sign, dysmetria, dysdiadochokinesia, diffuse hyperreflexia, bilateral Babinski sign, and oculomotor apraxia. The Wechsler Intelligence Scale for Children-III (WISC-III) demonstrated an IQ of 67 (intellectual disability). There were no other abnormalities on physical examination. Electroencephalogram showed focal paroxysmal discharges of moderate intensity in the posterior parietal-temporal region.Brain magnetic resonance imaging (MRI) demonstrated agenesis of the cerebellar vermis with a slit in the medial line sparing the two cerebellar hemispheres (Figure 1), lengthening and thickening of the cerebellar peduncles, associated with reduction of the anteroposterior diameter of the mesencephalon, the so-called “molar tooth sign” (MTS) (Figure 2). Morphological alterations in the posterior fossa showed a 4th ventricle with a typical “bat wing” appearance (Figure 3). These findings were highly suggestive of Joubert syndrome (JS). |
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The molar tooth sign and the bat wing appearance in Joubert syndromeGeneticsRadiologyNeurologyNeuroimagingA 10-year-old female patient was brought to the outpatient clinic with a history of neurodevelopmental delay, gait and limb incoordination, and oculomotor apraxia. According to her parents, the girl had always showed delayed acquisition of motor milestones when compared to other children, which became more evident when she was 8 months old and was not able to sit. She was able to sit by age of 2, and walked independently, but unsteady, when she was 3.5 years old. She presented with cognitive impairment. Reviewing her history, it became clear that she was hypotonic at birth and subsequently developed gait ataxia in early childhood. She was born to nonconsanguineous parents and there were no other similar cases in her family.On physical examination, she held her head preferentially in a lateralized position to her right side. She showed gait ataxia in tandem walking, abnormal stance with a positive Romberg’s sign, dysmetria, dysdiadochokinesia, diffuse hyperreflexia, bilateral Babinski sign, and oculomotor apraxia. The Wechsler Intelligence Scale for Children-III (WISC-III) demonstrated an IQ of 67 (intellectual disability). There were no other abnormalities on physical examination. Electroencephalogram showed focal paroxysmal discharges of moderate intensity in the posterior parietal-temporal region.Brain magnetic resonance imaging (MRI) demonstrated agenesis of the cerebellar vermis with a slit in the medial line sparing the two cerebellar hemispheres (Figure 1), lengthening and thickening of the cerebellar peduncles, associated with reduction of the anteroposterior diameter of the mesencephalon, the so-called “molar tooth sign” (MTS) (Figure 2). Morphological alterations in the posterior fossa showed a 4th ventricle with a typical “bat wing” appearance (Figure 3). These findings were highly suggestive of Joubert syndrome (JS).HCPA/FAMED/UFRGS2018-04-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArtigo avaliado por paresapplication/pdfhttps://seer.ufrgs.br/index.php/hcpa/article/view/76065Clinical & Biomedical Research; Vol. 38 No. 1 (2018): Clinical and Biomedical ResearchClinical and Biomedical Research; v. 38 n. 1 (2018): Clinical and Biomedical Research2357-9730reponame:Clinical and Biomedical Researchinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSenghttps://seer.ufrgs.br/index.php/hcpa/article/view/76065/pdfCopyright (c) 2018 Matheus Dorigatti Soldatelli, Natália Henz Concatto, Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Juliano Adams Perez, Juliana Ávila Duarteinfo:eu-repo/semantics/openAccessDorigatti Soldatelli, MatheusHenz Concatto, NatáliaMorales Saute, Jonas AlexFischinger Moura de Souza, CarolinaAdams Perez, JulianoÁvila Duarte, Juliana2024-01-19T14:23:13Zoai:seer.ufrgs.br:article/76065Revistahttps://www.seer.ufrgs.br/index.php/hcpaPUBhttps://seer.ufrgs.br/index.php/hcpa/oai||cbr@hcpa.edu.br2357-97302357-9730opendoar:2024-01-19T14:23:13Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.none.fl_str_mv |
The molar tooth sign and the bat wing appearance in Joubert syndrome |
title |
The molar tooth sign and the bat wing appearance in Joubert syndrome |
spellingShingle |
The molar tooth sign and the bat wing appearance in Joubert syndrome Dorigatti Soldatelli, Matheus Genetics Radiology Neurology Neuroimaging |
title_short |
The molar tooth sign and the bat wing appearance in Joubert syndrome |
title_full |
The molar tooth sign and the bat wing appearance in Joubert syndrome |
title_fullStr |
The molar tooth sign and the bat wing appearance in Joubert syndrome |
title_full_unstemmed |
The molar tooth sign and the bat wing appearance in Joubert syndrome |
title_sort |
The molar tooth sign and the bat wing appearance in Joubert syndrome |
author |
Dorigatti Soldatelli, Matheus |
author_facet |
Dorigatti Soldatelli, Matheus Henz Concatto, Natália Morales Saute, Jonas Alex Fischinger Moura de Souza, Carolina Adams Perez, Juliano Ávila Duarte, Juliana |
author_role |
author |
author2 |
Henz Concatto, Natália Morales Saute, Jonas Alex Fischinger Moura de Souza, Carolina Adams Perez, Juliano Ávila Duarte, Juliana |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Dorigatti Soldatelli, Matheus Henz Concatto, Natália Morales Saute, Jonas Alex Fischinger Moura de Souza, Carolina Adams Perez, Juliano Ávila Duarte, Juliana |
dc.subject.por.fl_str_mv |
Genetics Radiology Neurology Neuroimaging |
topic |
Genetics Radiology Neurology Neuroimaging |
description |
A 10-year-old female patient was brought to the outpatient clinic with a history of neurodevelopmental delay, gait and limb incoordination, and oculomotor apraxia. According to her parents, the girl had always showed delayed acquisition of motor milestones when compared to other children, which became more evident when she was 8 months old and was not able to sit. She was able to sit by age of 2, and walked independently, but unsteady, when she was 3.5 years old. She presented with cognitive impairment. Reviewing her history, it became clear that she was hypotonic at birth and subsequently developed gait ataxia in early childhood. She was born to nonconsanguineous parents and there were no other similar cases in her family.On physical examination, she held her head preferentially in a lateralized position to her right side. She showed gait ataxia in tandem walking, abnormal stance with a positive Romberg’s sign, dysmetria, dysdiadochokinesia, diffuse hyperreflexia, bilateral Babinski sign, and oculomotor apraxia. The Wechsler Intelligence Scale for Children-III (WISC-III) demonstrated an IQ of 67 (intellectual disability). There were no other abnormalities on physical examination. Electroencephalogram showed focal paroxysmal discharges of moderate intensity in the posterior parietal-temporal region.Brain magnetic resonance imaging (MRI) demonstrated agenesis of the cerebellar vermis with a slit in the medial line sparing the two cerebellar hemispheres (Figure 1), lengthening and thickening of the cerebellar peduncles, associated with reduction of the anteroposterior diameter of the mesencephalon, the so-called “molar tooth sign” (MTS) (Figure 2). Morphological alterations in the posterior fossa showed a 4th ventricle with a typical “bat wing” appearance (Figure 3). These findings were highly suggestive of Joubert syndrome (JS). |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-04-11 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Artigo avaliado por pares |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://seer.ufrgs.br/index.php/hcpa/article/view/76065 |
url |
https://seer.ufrgs.br/index.php/hcpa/article/view/76065 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://seer.ufrgs.br/index.php/hcpa/article/view/76065/pdf |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
HCPA/FAMED/UFRGS |
publisher.none.fl_str_mv |
HCPA/FAMED/UFRGS |
dc.source.none.fl_str_mv |
Clinical & Biomedical Research; Vol. 38 No. 1 (2018): Clinical and Biomedical Research Clinical and Biomedical Research; v. 38 n. 1 (2018): Clinical and Biomedical Research 2357-9730 reponame:Clinical and Biomedical Research instname:Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS |
instname_str |
Universidade Federal do Rio Grande do Sul (UFRGS) |
instacron_str |
UFRGS |
institution |
UFRGS |
reponame_str |
Clinical and Biomedical Research |
collection |
Clinical and Biomedical Research |
repository.name.fl_str_mv |
Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS) |
repository.mail.fl_str_mv |
||cbr@hcpa.edu.br |
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1799767054247526400 |