DX: Joubert Syndrome

This is a presumptive diagnosis and has to be evaluated by a Genetist.

Radiological features of Joubert Syndrome are:

Cerebellar Vermis aplasia or dysgenesis.
Decussation of the superior cerebellar peduncles are absent and those peduncles are elongated giving the appearance of molar tooth sign.
Dysplasia of cerebellar nuclei.


Here are the case features:

Aplasia of cerebellar vermis:

Elongation of superior cerebellar peduncles and molar tooth sign:

Most infants with Joubert syndrome have weak muscle tone (hypotonia) in infancy, which evolves into difficulty coordinating movements (ataxia) in early childhood. Other characteristic features of the condition include episodes of unusually fast or slow breathing in infancy and abnormal eye movements. Most affected individuals have delayed development and intellectual disability, which range from mild to severe. Distinctive facial features are also characteristic of Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes, low-set ears, and a triangle-shaped mouth.

Here are some useful links:

http://ghr.nlm.nih.gov/condition/joubert-syndrome

http://radiopaedia.org/articles/joubert-syndrome-1

https://www.jewishgenetics.org/joubert-syndrome