Joubert syndrome a rare entity and role of radiology: A case report

• Published in: Annals of medicine and surgery (2012) 2022, Vol.79, p.104113-104113
• Main Authors: Ullah, Irfan, Khan, Kiran Shafiq, Afridi, Rifayat Ullah, Shirazi, Farida, Naz, Irum, Ambreen, Aneela, Singh, Manjeet, Asghar, Muhammad Sohaib
• Format: Report
• Language: English
• ISSN: 2049-0801; 2049-0801
• DOI: 10.1016/j.amsu.2022.104113

Introduction and importanceJoubert 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 presentationClinical 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 discussionTreatment for JS is symptomatic and supportive. The prognosis depends on cerebellar vermis development. ConclusionJS can be missed if special attention were not given to radiological findings.