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

• Published in: Annals of medicine and surgery 2022-07, Vol.79, Article 104113
• Main Authors: Ullah, Irfan, Khan, Kiran Shafiq, Afridi, Rifayat Ullah, Shirazi, Farida, Naz, Irum, Ambreen, Aneela, Singh, Manjeet, Asghar, Muhammad Sohaib
• Format: Article
• Language: English
• Subjects: Case Report; Cerebellum abnormality; Hypotonia; Joubert syndrome
• ISSN: 2049-0801; 2049-0801
• DOI: 10.1016/j.amsu.2022.104113

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. 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. Treatment for JS is symptomatic and supportive. The prognosis depends on cerebellar vermis development. JS can be missed if special attention were not given to radiological findings. •Joubert syndrome (JS) is rare entity characterized by set of cerebellum and midbrain abnormalities.•This case study highlighted a 17-month-old baby presented with typical JS features diagnosed radiologically.•The patient was given multivitamins, and the parents were counseled, educated on other supportive therapies.