|Year : 2020 | Volume
| Issue : 2 | Page : 92-93
When you find a tooth in the brain, call joubert for help
Suhas Murali, Karthik Nagraj
Department of Neurology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India
|Date of Submission||21-Dec-2019|
|Date of Acceptance||18-Jan-2020|
|Date of Web Publication||18-Apr-2020|
Dr. Suhas Murali
Department of Neurology, PMSSY-Super Specialty Hospital, Victoria Hospital Campus, Bangalore Medical College and Research Institute, Fort Road, Bengaluru - 560 002, Karnataka
Source of Support: None, Conflict of Interest: None
Joubert syndrome is an extremely rare autosomal recessive condition characterized by agenesis of the cerebellar vermis. This has characteristic imaging features which have been described in this article.
Keywords: Batwing sign, Joubert syndrome, molar tooth sign
|How to cite this article:|
Murali S, Nagraj K. When you find a tooth in the brain, call joubert for help. APIK J Int Med 2020;8:92-3
| Clinical Image Description|| |
Joubert syndrome is an extremely rare autosomal recessive condition, which causes cerebellar vermis agenesis. The phenotypic features include nystagmus, global developmental delay, breathing abnormalities, hypotonia, and oculomotor apraxia., Extraneural manifestations include retinal coloboma and multicystic kidney disease. Hence, some consider it as part of a wider cerebello-oculo-renal syndrome., It is an extremely rare disorder with an estimated incidence of one in 100,000 live births. It was first described by Dr. Marie Joubert in 1969, a pediatric neurologist. They described a family of four siblings in a French Canadian family, with consanguinity traced back to 11 generations. Here, we describe the characteristic imaging feature of this rare condition.
Imaging in Joubert syndrome shows the presence of:
- A gross cerebellar vermis agenesis
- Thin and elongated superior cerebellar peduncle (SCP) = “molar tooth”, As shown in [Figure 1] with comparative normal in [Figure 2]
- Deep interpeduncular fossa (along with first and second features mentioned above) gives rise to a “bat wing fourth ventricle” (not so classically seen in our case)
- On diffusion tensor imaging, evidence of absence of fiber decussation in the SCP
- Dysplasia and heterotopia of cerebellar nuclei
- Abnormal inferior olivary nuclei
- Corpus callosal dysgenesis
- Lateral ventricle enlargement.
|Figure 2: Normal T1-weighted axial magnetic resonance image at the level of the superior cerebellar peduncle. This image shows how a normal cerebellar vermis looks along with the length of the superior cerebellar peduncles and the interpeduncular fossa depth|
Click here to view
Among these, the first three in the list are more commonly seen compared to the latter three. As described in our case in [Figure 3].
This clinical image is to shed light on this classical appearance of this rare condition.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]