A 10 months old baby boy with a large head presented with ataxia and nystagmus. His parents complain about delay in achieving motor milestones. Also he had abnormal respiratory pattern in neonatal period.

1. What is the diagnosis?

2. What is the buzzword?

3. What is the most common association

Correct answer:

1. What is the diagnosis?

 Joubert Syndrome

2. What is the buzzword?

Molar Tooth Sign

3. What is the most common association?

Retinal Dysplasia


Joubert Syndrome

Also known as vermian aplasia or molar tooth midbrain-hindbrain malformation.

KEY FEATURES

-This is an inherited condition (Autosomal Recessive)

- A lack of normal decussation of superior cerebellar peduncular fiber tracts leads to enlargement of the peduncles. All this together makes the midbrain look like a molar tooth.

- There are several associations that are worth knowing:

                  ♦ Retinal Dysplasia (occurs in 50% of cases)

                  ♦ Multicystic dysplastic kidney (occurs in 3 0% of cases)

                  ♦ Polydactyly (occurs in 15% of cases)

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