Joubert syndrome a rare entity and role of radiology: A case report. (July 2022)

• Record Type: Journal Article
• Authors: Ullah, Irfan; Khan, Kiran Shafiq; Afridi, Rifayat Ullah; Shirazi, Farida; Naz, Irum; Ambreen, Aneela; Singh, Manjeet; Asghar, Muhammad Sohaib
• Is Part Of: Annals of medicine and surgery. Volume 79(2022)
• Publication Date: 2022-07
• Subjects: Joubert syndrome -- Hypotonia -- Cerebellum abnormality -- Case report; Surgery -- Periodicals; Medicine -- Periodicals; General Surgery -- Periodicals; Education, Medical -- Periodicals; Periodicals; 617
• DOI: 10.1016/j.amsu.2022.104113
• Languages: English
• ISSNs: 2049-0801

Abstract

Abstract: 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. Highlights: 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.