Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome
Introduction: Joubert syndrome is rare autosomal recessive/X-linked disorder involving the posterior fossa structures. It is often missed clinically and radiologically. However, vermian hypoplasia and ‘molar tooth’ sign on axial Magnetic Resonance Imaging (MRI) are key to the diagnosis of Joube...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Pvt. Ltd.
2017-04-01
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| Series: | International Journal of Anatomy Radiology and Surgery |
| Subjects: | |
| Online Access: | http://www.ijars.net/articles/PDF/2253/26924_CE[VSU]_F(GH)_PF1(VsuGH)_PFA(GH)_PF2(VsuGH).pdf |
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| author | Preetam B Patil Santosh K Dasar Shamsundar K Joshi Anithraj Y Bhat |
| author_facet | Preetam B Patil Santosh K Dasar Shamsundar K Joshi Anithraj Y Bhat |
| author_sort | Preetam B Patil |
| collection | DOAJ |
| description | Introduction: Joubert syndrome is rare autosomal
recessive/X-linked disorder involving the posterior fossa
structures. It is often missed clinically and radiologically.
However, vermian hypoplasia and ‘molar tooth’ sign on
axial Magnetic Resonance Imaging (MRI) are key to the
diagnosis of Joubert syndrome.
Aim: To identify and characterize the classical and
associated brain, brainstem and cerebellar imaging
findings in the patients of Joubert syndrome.
Materials and Methods: Clinical details and MRI details
of 7 Joubert syndrome patients were collected from
hospital medical record department and Picture Archiving
and Communicating System (PACS). Existing images were
evaluated retrospectively by two qualified radiologists.
Results: Vermian hypoplasia was seen in 85.7% of patients.
Asymmetric thickening of bilateral superior cerebellar
peduncles measuring more than 2 mm was seen in all the
patients. Enlargement with distortion of the fourth ventricle
with rounded roof and widening of foramina Magendie
were seen in all patients.
Conclusion: Identification of hallmark findings-classic
molar tooth sign and other posterior fossa abnormalities
on MR imaging along with the clinical features can help
to establish the diagnosis and to plan genetic counselling
and prenatal screening for future pregnancies. |
| first_indexed | 2024-04-12T15:24:07Z |
| format | Article |
| id | doaj.art-baa540fcbe424cada203f97535f46d2a |
| institution | Directory Open Access Journal |
| issn | 2277-8543 2455-6874 |
| language | English |
| last_indexed | 2024-04-12T15:24:07Z |
| publishDate | 2017-04-01 |
| publisher | JCDR Research and Publications Pvt. Ltd. |
| record_format | Article |
| series | International Journal of Anatomy Radiology and Surgery |
| spelling | doaj.art-baa540fcbe424cada203f97535f46d2a2022-12-22T03:27:20ZengJCDR Research and Publications Pvt. Ltd.International Journal of Anatomy Radiology and Surgery2277-85432455-68742017-04-0162RO08RO1110.7860/IJARS/2017/26924:2253Infratentorial Magnetic Resonance Imaging Evaluation of Joubert SyndromePreetam B Patil0Santosh K Dasar1Shamsundar K Joshi2Anithraj Y Bhat3Associate Professor, Department of Radiodiagnosis, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka, India.Assistant Professsor, Department of Radiodiagnosis, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka, India.Professor, Department of Radiodiagnosis, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka, India.Junior Resident, Department of Radiodiagnosis, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka, India.Introduction: Joubert syndrome is rare autosomal recessive/X-linked disorder involving the posterior fossa structures. It is often missed clinically and radiologically. However, vermian hypoplasia and ‘molar tooth’ sign on axial Magnetic Resonance Imaging (MRI) are key to the diagnosis of Joubert syndrome. Aim: To identify and characterize the classical and associated brain, brainstem and cerebellar imaging findings in the patients of Joubert syndrome. Materials and Methods: Clinical details and MRI details of 7 Joubert syndrome patients were collected from hospital medical record department and Picture Archiving and Communicating System (PACS). Existing images were evaluated retrospectively by two qualified radiologists. Results: Vermian hypoplasia was seen in 85.7% of patients. Asymmetric thickening of bilateral superior cerebellar peduncles measuring more than 2 mm was seen in all the patients. Enlargement with distortion of the fourth ventricle with rounded roof and widening of foramina Magendie were seen in all patients. Conclusion: Identification of hallmark findings-classic molar tooth sign and other posterior fossa abnormalities on MR imaging along with the clinical features can help to establish the diagnosis and to plan genetic counselling and prenatal screening for future pregnancies.http://www.ijars.net/articles/PDF/2253/26924_CE[VSU]_F(GH)_PF1(VsuGH)_PFA(GH)_PF2(VsuGH).pdfbat-wing appearancebuttock signmolar tooth signposterior fossa malformationvermian hypoplasia |
| spellingShingle | Preetam B Patil Santosh K Dasar Shamsundar K Joshi Anithraj Y Bhat Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome International Journal of Anatomy Radiology and Surgery bat-wing appearance buttock sign molar tooth sign posterior fossa malformation vermian hypoplasia |
| title | Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome |
| title_full | Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome |
| title_fullStr | Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome |
| title_full_unstemmed | Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome |
| title_short | Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome |
| title_sort | infratentorial magnetic resonance imaging evaluation of joubert syndrome |
| topic | bat-wing appearance buttock sign molar tooth sign posterior fossa malformation vermian hypoplasia |
| url | http://www.ijars.net/articles/PDF/2253/26924_CE[VSU]_F(GH)_PF1(VsuGH)_PFA(GH)_PF2(VsuGH).pdf |
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