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Dandy-Walker Syndrome: A Case of Conservative Management

Journal: Physical Medicine and Rehabilitation - International (Vol.2, No. 4)

Publication Date:

Authors : ; ;

Page : 1-3

Keywords : Dandy-Walker Syndrome; Waddling gait; Dandy-Walker variant; Mega cisterna magna;

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Abstract

Case: Diagnosis: Dandy-Walker Variant vs. Mega Cisterna Magna. A 3 year 8 month old female with waddling gait, hypotonia, lower extremity clonus and global developmental delays was referred to PM&R. Physical examination showed generalized mild hypotonia and weakness throughout. MRI revealed hypoplasia of inferior vermis with prominent communication of 4th ventricle, leading to a preliminary diagnosis of Dandy-Walker Variant vs Mega Cisterna Magna. Treatment options for Dandy-Walker syndrome were discussed with the patient’s parents who refused surgery and opted for conservative management. Discussion: Dandy-Walker syndrome (DWS) is the most common congenital malformation of the cerebellum, occurring in 1 of 30,000 live births. The disease causes dilation of the 4th ventricle, and patients present with waddling gait, hypotonia and developmental delays. The etiology of the disease is speculated to be the loss of Zic1/4 genes. Conclusion: This is a case of DWS managed conservatively, with surgery being the usual treatment of choice. DWS should be suspected in patients with waddling gait, hypotonia and developmental delays. Further investigation is required to determine if breast malformations, amblyopia and family history of cerebral palsy are associated with a diagnosis of DWS.

Last modified: 2016-08-05 19:24:56