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Related Experiment Video

Updated: Jun 3, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

[A neonate with developmental retardation].

Daisy G M Bloemenkamp¹, Bwee-Tien Poll-The, Charles B Majoie

¹Meander Medisch Centrum, Amersfoort, the Netherlands. dbloemenkamp@hotmail.com

Nederlands Tijdschrift Voor Geneeskunde

|March 9, 2011

Summary

This summary is machine-generated.

Joubert syndrome is a rare genetic disorder. A distinctive "molar tooth" brainstem malformation on MRI is a key diagnostic sign in infants presenting with hypotonia and breathing issues.

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Area of Science:

Neuroscience
Genetics
Pediatric Neurology

Background:

Joubert syndrome is a rare autosomal recessive ciliopathy.
It affects brain development, particularly the cerebellum and brainstem.
Clinical presentation is variable, often including motor delays and respiratory issues.

Observation:

A 6-month-old infant presented with hypotonia, abnormal eye movements, and episodes of hyperpnea and apnea.
Cranial magnetic resonance imaging (MRI) was performed for diagnostic evaluation.
MRI revealed specific structural abnormalities in the brainstem.

Findings:

The MRI demonstrated prominent superior cerebellar peduncles.
Dysgenesis of the cerebellar vermis and a deep interpeduncular fossa were observed.
These features collectively formed the characteristic 'molar tooth' sign on brainstem imaging.

Implications:

The 'molar tooth' sign is a highly specific radiological marker for Joubert syndrome.
Early identification through characteristic imaging aids in timely diagnosis and management.
Understanding these malformations is crucial for genetic counseling and prognosis in affected families.