Title: Joubert Syndrome- A Rare Congenital Anomaly
Authors: Dr Nikhil Mehta, Dr Divya Kant, Dr Rohit Sehrawat, Dr Kanika Mehta
DOI: https://dx.doi.org/10.18535/jmscr/v5i9.83
Abstract
Joubert syndrome is an inherited autosomal recessive trait that affects many parts of the body. However, in some cases Joubert’s syndrome appears to be sporadic. The classic clinical presentation is a child with developmental delay, ataxia, and oculomotor and respiratory abnormalities. Neonates may exhibit nystagmus, alternating apnea and hyperpnea, and seizures.
Molar tooth sign and complete or almost complete aplasia of the vermis are neuro imaging hallmarks of Joubert’s syndrome.
We present you a case of Joubert’s syndrome in 8year old who came with the complaint of intractable seizure and ataxia and who on examination had nystagmus and hypotonia.
Keywords: jouberts syndrome, sporadic, congenital anomaly, neuroimaging.
