Dr. Jigna Patel, P16812, Dr. Trivedi Harish Ratilal, Dr. Nilesh V Parekh
Joubert syndrome is Autosomal recessive inherited disorder characterized by hypotonia, ataxia, developmental delay, intellectual disability with distinctive mid-hindbrain malformation, 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, MRI brain suggestive “Molar tooth appearance” of cerebellar peduncles and “Bat wing appearance” of prominent fourth ventricle. Chest X-ray showing cardiomegaly and C- Reactive Protein Positive. Aim of our study increase awareness about Joubert Syndrome and manage it as early as possible and prevent serious complication like visual impairment. The clinical examination, specific laboratory test and radiological investigations needed for diagnosis.
KEY WORD: Joubert syndrome, Nystagmus, Molar tooth appearance