A 4 year old baby boy presented with delayed gross motor milestones and ataxia.

1. What is the diagnosis? A. Normal B. Chiari II Malformation C. Dandy Walker Spectrum D. Joubert Syndrome 2. What is the buzzword? A. Prom...

1. What is the diagnosis?
A. Normal
B. Chiari II Malformation
C. Dandy Walker Spectrum
D. Joubert Syndrome

2. What is the buzzword?
A. Prominent Vermis
B. Eye of the Tiger Sign
C. Panda Sign
D. Molar Tooth Sign

3. What is the most common association?
A. Retinal Dysplasia
B. Aortic Aneurysm
C. Medulloblastoma
D. Syndactyly

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ANSWERSWhat 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 (AR)

– 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 30% of cases)

♦ Polydactyly (occurs in 15% of cases)

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