Cerebellar Dysplastic Gangliocytoma as the First Presentation of Cowden Syndrom

Abstract

Cowden syndrome is a rare autosomal-dominant disease characterized by multisystem hamartomas usually affecting the skin, thyroid gland, breast, and gastrointestinal tract; these hamartomas tend to undergo malignant transformation in various tissues. We describe a 32-year- old woman who presented with a progressive headache, neck pain, nausea, vomiting, transient loss of vision, dizziness, and unsteady gait during the previous 2 months; she had one episode of a seizure and a previous history of an ovarian cyst manifesting as abnormal menses. Brain magnetic resonance imaging (MRI) revealed a left cerebellar mass with features suggestive of dysplastic gangliocytoma with obstructive hydrocephalus in addition to multiple meningiomas. Imaging features raised the suspicion of Cowden syndrome (CS). Thus, the patient underwent suboccipital craniotomy for resection of the left cerebellar mass; pathological and immunohistochemical examination confirmed the diagnosis of CS. Most cases found in the literature reported delayed diagnoses of this condition; however, our patient’s peculiar MRI features facilitated early diagnosis and likely prevented or delayed possible complications. This case highlights the clinical manifestations and diagnostic criteria of CS even in the absence of mucocutaneous manifestations.