The Molar Tooth Sign of Joubert Syndrome

Kumar, Jyoti; Kumar, Amod; Saha, Shyama Prasad

doi:10.1001/archneur.64.4.602

Cited by 8 publications

(6 citation statements)

References 4 publications

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“…Neurological impairments were present in all cases, 30,32,34,40 and were characterized by ataxia (100%), 30,32 hypotonia (97−100%), 30,33,34,36–40 and oculomotor disturbances (42−77%) 30,33,34,36,38,40 . In addition, visuomotor deficits were also found to be prevalent 32 .…”

Section: Resultsmentioning

confidence: 98%

“…Nevertheless, available evidence suggests that impaired cognitive function or developmental delay was present in all children, with the majority experiencing severe disability. 30,[32][33][34][35][36][37][38][39] Moreover, in addition to delayed developmental milestones and impaired developmental quotients, immediate and delayed memory, conceptual development, perceptual discrimination, and daily living skills were reported to be impaired. 32,33,38,40 Language abilities were also affected in all children with molar tooth sign or Joubert syndrome.…”

Section: Molar Tooth Sign ⁄ Joubert Syndromementioning

confidence: 99%

“…30,32,34,37,38,40,41 Neurological impairments were present in all cases, 30,32,34,40 and were characterized by ataxia (100%), 30,32 hypotonia (97)100%), 30,33,34,[36][37][38][39][40] and oculomotor disturbances (42)77%). 30,33,34,36,38,40 In addition, visuomotor deficits were also found to be prevalent. 32 Associated CNS anomalies were less prevalent, with the most common CNS abnormality being dysgenesis of the corpus callosum in 5 to 29% of children.…”

Section: Molar Tooth Sign ⁄ Joubert Syndromementioning

confidence: 99%

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Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

Bolduc

Limperopoulos

2009

Develop Med Child Neuro

152

151

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Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature search of studies describing neurodevelopmental outcomes of cerebellar malformations between January 1997 and December 2007. Overall, the data suggested that children with isolated inferior vermis hypoplasia (IVH) and mega cisterna magna (MCM) have a good developmental outcome, whereas children with molar tooth sign/Joubert syndrome, vermis hypoplasia, pontocerebellar hypoplasia (PCH) type II, and cerebellar agenesis experience moderate to severe global developmental delays. Reports for Dandy−Walker malformation (DWM) were conflicting; however, the presence of a normally lobulated vermis and the absence of associated brain anomalies were associated with a more favourable outcome. Finally, children with isolated cerebellar hypoplasia experienced fewer impairments. Important methodological limitations highlighted include a lack of standardized outcome measure use in 79% of studies and the predominant use of retrospective study designs (85%), with 40% limited to case reports or case‐series. In summary, rigorous outcome studies describing the spectrum of disabilities in survivors are urgently needed to accurately delineate the long‐term neurodevelopmental consequences of cerebellar malformations.

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Section: Resultsmentioning

confidence: 98%

Section: Molar Tooth Sign ⁄ Joubert Syndromementioning

confidence: 99%

Section: Molar Tooth Sign ⁄ Joubert Syndromementioning

confidence: 99%

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Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

Bolduc

Limperopoulos

2009

Develop Med Child Neuro

152

151

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“…The clinical features include episodic hyperpnoea and apnoea in the neonatal period, ocular abnormalities (oculomotor apraxia and ocular coloboma), hypotonia, truncal ataxia, developmental delay, intellectual impairment and abnormal facies [ 4 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

Joubert Syndrome: Imaging Features and Illustration of a Case

Arora

2014

Pol J Radiol

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SummaryBackgroundJoubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus.Case ReportWe present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in both lower limbs, ataxia and abnormal facies and diagnosed on Computed Tomography.ConclusionsJoubert Syndrome should be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities and developmental delay. Its neuroimaging hallmarks include molar tooth sign and batwing shaped fourth ventricle. As JS is associated with multiorgan involvement, these patients should enter a diagnostic protocol to assess systemic abnormalities. Extreme caution should be taken while administering drugs in these patients as they are prone to respiratory depression.

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“…MR imaging shows a "molar tooth" sign in the axial plane, which consists of an abnormally deep cleft in the isthmus of the brainstem, thickened and reoriented superior cerebellar peduncles, and vermian hypoplasia. 332 The pathological findings include vermian hypoplasia or dysplasia, elongation of the caudal midbrain tegmentum, and marked dysplasia of the caudal medulla. These findings reflect a lack of decussation of the superior cerebellar peduncles, central pontine tegmental tracts, and corticospinal tracts.…”

Section: Joubert Syndromementioning

confidence: 99%

The Apparently Blind Infant

Brodsky

2009

Pediatric Neuro-Ophthalmology

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The Molar Tooth Sign of Joubert Syndrome

Cited by 8 publications

References 4 publications

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

Joubert Syndrome: Imaging Features and Illustration of a Case

The Apparently Blind Infant

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