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Case Report

A rare case of Joubert syndrome

Jigna R Patel, Vinay Patel, Harish Trivedi, Nilesh Parekh.


Joubert syndrome (JS) is autosomal recessive inherited disorder characterized by hypotonia, ataxia, developmental delay, intellectual disability with distinctive mid-hindbrain malformation (molar tooth sign), ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cyst, and hepatic fibrosis. In our case, 7-year-old female child presenting with convulsion, both eye nystagmus, right eye exotropia, left eye ptosis, both eye papilloedema, developmental delay, magnetic resonance imaging brain suggestive “molar tooth appearance” of cerebellar peduncles, and “Bat wing appearance” of the prominent fourth ventricle. Chest X-ray showing cardiomegaly and C-reactive protein positive. The aim of our study is diagnosis and management of patient with JS and increase awareness about this disease and manage it as early as possible and prevent serious complication like visual impairment.

Key words: Joubert Syndrome; Nystagmus; Molar Tooth Appearance; Bat Wing Appearance

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