Late onset cerebellar metastasis from oesophageal adenocarcinoma in Williams Syndrome

A 33-year-old female, harbouring a genetically diagnosed Williams Syndrome (hemizygous for 7q11.23, assessed by FISH), was admitted to our department because of three weeks history of headache, vomiting and gait imbalance; since 2 months she had developed a progressive weight loss. On admission features of the syndrome were evident (Fig. 1a); neurological exam showed gait imbalance, diplopia and papilledema, suggesting an intracranial hypertension.