Related Experiment Video
Updated: Sep 4, 2025
A Novel Application of Musculoskeletal Ultrasound Imaging
Published on: September 17, 2013
Joubert syndrome a rare entity and role of radiology: A case report
Irfan Ullah1,2, Kiran Shafiq Khan3, Rifayat Ullah Afridi1,2
1Department of Pediatrics, Naseer Teaching Hospital, Peshawar, Pakistan.
Introduction And Importance:
Joubert syndrome (JS) is defined by the characteristic set of cerebellum and midbrain abnormalities that communally result in the indicative "molar tooth sign" on the axial MRI report. The incidence of estimated to be from 1:80,000 to 1:100,000.
Case Presentation:
Clinical features can be noticed shortly after birth that includes hypotonia episodic tachypnea and apnea that may be followed by developmental delays and speech apraxia. Polydactyly, cleft lip or palate, tongue abnormalities, hypotonia, encephalocele, meningocele, hydrocephalus, kidney problems, pituitary abnormality, and autistic-like behavior are the other deformities that can be seen with JS. Seizures may also occur. Motor disability and mental health range from mild to severe forms.
Clinical Discussion:
Treatment for JS is symptomatic and supportive. The prognosis depends on cerebellar vermis development.
Conclusion:
JS can be missed if special attention were not given to radiological findings.
