An interesting case of acquired syringohydromyelia: Lhermitte Duclos disease

Abstract

This case report describes a case of Lhermitte–Duclos disease (LDD), an extremely rare type of benign cerebellar mass which usually manifests with features of raised intracranial pressure and cerebellar dysfunction in advanced situations. Patients may remain asymptomatic for many years, and detection may be by chance on routine magnetic resonance imaging (MRI). A 34 year old lady presented to us with a two week history of dysphagia, headache and cough on swallowing. On examination, she had dysmorphia of Cowden’s Syndrome which is a described co association and lower brainstem dysfunction. MRI findings were consistent with LDD causing acquired Chiari syndrome with syringohydromyelia and mass effect. As patient was symptomatic, she underwent decompression and tissue resection following which she had significant symptomatic relief. LDD is a rare cause of headache and cerebellar dysfunction in the younger age group. Treatment may be individualized, and conservative management with regular follow up may be a better approach if symptoms are mild and non progressive in nature.

Keywords

• Lhermitte Duclos disease
• Cowden syndrome
• Syringohydromyelia