Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report
Joubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse view of the head magnetic resonance imaging s...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-09-01
|
| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325005345 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850114946537357312 |
|---|---|
| author | Tsega Hagos Mehari, MD Bemnet Mengesha Tessema, MD Redaie Girmay Gebrekidan, MD |
| author_facet | Tsega Hagos Mehari, MD Bemnet Mengesha Tessema, MD Redaie Girmay Gebrekidan, MD |
| author_sort | Tsega Hagos Mehari, MD |
| collection | DOAJ |
| description | Joubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse view of the head magnetic resonance imaging scan. Major clinical features of Joubert syndrome are typically present in early infancy, with most children showing delays in gross motor milestones. When associated with other posterior fossa congenital malformations, it is categorized as Joubert-Plus syndrome. The co-occurrence of both disease entities in one patient has been reported only in a few case reports. In addition, the cystic dilatation of the posterior fossa in Dandy-Walker malformation can mask recognition of the molar tooth sign unless there is a high index of suspicion. We hereby present our experience with diagnosing a combined Joubert syndrome and Dandy-Walker malformation in a 3-year-old girl using magnetic resonance imaging and CT scan after she presented with generalized floppiness since birth. |
| format | Article |
| id | doaj-art-ab7cc043c25843a19b0f667a40dd6fff |
| institution | OA Journals |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-ab7cc043c25843a19b0f667a40dd6fff2025-08-20T02:36:42ZengElsevierRadiology Case Reports1930-04332025-09-012094701470510.1016/j.radcr.2025.05.103Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case reportTsega Hagos Mehari, MD0Bemnet Mengesha Tessema, MD1Redaie Girmay Gebrekidan, MD2Corresponding author.; Department of Radiology, Mekelle University, Mekelle, EthiopiaDepartment of Radiology, Mekelle University, Mekelle, EthiopiaDepartment of Radiology, Mekelle University, Mekelle, EthiopiaJoubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse view of the head magnetic resonance imaging scan. Major clinical features of Joubert syndrome are typically present in early infancy, with most children showing delays in gross motor milestones. When associated with other posterior fossa congenital malformations, it is categorized as Joubert-Plus syndrome. The co-occurrence of both disease entities in one patient has been reported only in a few case reports. In addition, the cystic dilatation of the posterior fossa in Dandy-Walker malformation can mask recognition of the molar tooth sign unless there is a high index of suspicion. We hereby present our experience with diagnosing a combined Joubert syndrome and Dandy-Walker malformation in a 3-year-old girl using magnetic resonance imaging and CT scan after she presented with generalized floppiness since birth.http://www.sciencedirect.com/science/article/pii/S1930043325005345Molar tooth signJoubert Plus syndromeDandy-Walker malformationOccipital cephaloceleMagnetic resonance imagingRadiology |
| spellingShingle | Tsega Hagos Mehari, MD Bemnet Mengesha Tessema, MD Redaie Girmay Gebrekidan, MD Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report Radiology Case Reports Molar tooth sign Joubert Plus syndrome Dandy-Walker malformation Occipital cephalocele Magnetic resonance imaging Radiology |
| title | Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report |
| title_full | Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report |
| title_fullStr | Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report |
| title_full_unstemmed | Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report |
| title_short | Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report |
| title_sort | joubert plus syndrome in a child with dandy walker malformation and occipital cephalocele a case report |
| topic | Molar tooth sign Joubert Plus syndrome Dandy-Walker malformation Occipital cephalocele Magnetic resonance imaging Radiology |
| url | http://www.sciencedirect.com/science/article/pii/S1930043325005345 |
| work_keys_str_mv | AT tsegahagosmeharimd joubertplussyndromeinachildwithdandywalkermalformationandoccipitalcephaloceleacasereport AT bemnetmengeshatessemamd joubertplussyndromeinachildwithdandywalkermalformationandoccipitalcephaloceleacasereport AT redaiegirmaygebrekidanmd joubertplussyndromeinachildwithdandywalkermalformationandoccipitalcephaloceleacasereport |