Objective: To identify what could be causing a full, progressive cerebellar syndrome on a previously healthy 40 year old woman.

Background: A 40-year old woman arrives in the emergency room with an unsteady gait which had been progressing slowly for the last few months. The clinical examination revealed bilateral horizontal nystagmus, bilateral dysmetria, ataxia of both the arms and legs, truncal ataxia, bilateral pendular reflexes, dysarthria, and dysgraphia.

Method: Comparing her current Cerebral CT scan and MRI with a CT done 5 months prior, a significant atrophy of the cerebellum could be seen, along with dilation of the infra and supratentorial ventricular system. Family history was also taken, where we discovered her mother and 2 siblings all suffered from various degrees of ataxia, all of whom presented symptoms after the age of 30.

Results: Considering all information, we were able to make an ultimate, definite diagnosis of adult onset Dandy Walker syndrome. This disorder is unique, especially when appearing after childhood, and thus not very prevalent in the current medical literature.

Conclusion: This disorder is unique, especially when appearing after childhood, and thus not very prevalent in the current medical literature. Similar to the Lipton et al 1978 article on the same subject, our patient was completely asymptomatic for the first 40 years of her life. 

References: https://jamanetwork.com/journals/jamaneurology/article-abstract/576916

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MDS Abstracts - https://www.mdsabstracts.org/abstract/adult-onset-of-dandy-walker-syndrome/