title: Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia.
abstract: Cowden syndrome or multiple hamartoma syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomatous lesions of ectodermal, mesodermal and endodermal origin. A 45-year-old man presented to us with a history of dural arteriovenous fistula and intracerebral bleed in the past with gradually progressive difficulty in walking. Magnetic resonance imaging (MRI) of the brain showed a heterogeneous lesion in the cerebellum which was diagnosed as adult Lhermitte-Duclos disease which is considered a component of Cowden syndrome. On examination we found florid skin and mucosal manifestations of Cowden syndrome. A family history of thyroid malignancy was also present. Using the Cleveland Clinic web calculator, the patient had an 82% chance of having a phosphatase and tensin homologue (PTEN) mutation.
authors.affiliation: Government Medical College, Kozhikode, Kerala, India.
authors.forename: K A
authors.initials: KA
authors.lastname: Arun
authors.affiliation: Government Medical College, Kozhikode, Kerala, India.
authors.forename: R
authors.initials: R
authors.lastname: Sreejith
authors.affiliation: Government Medical College, Kozhikode, Kerala, India.
authors.forename: B
authors.initials: B
authors.lastname: Hitha
authors.affiliation: Government Medical College, Kozhikode, Kerala, India.
authors.forename: P
authors.initials: P
authors.lastname: Geetha
authors.affiliation: Department of Medicine Government Medical College, Kozhikode, Kerala, India, sasidharanpk@gmail.com.
authors.forename: P K
authors.initials: PK
authors.lastname: Sasidharan
mesh_terms: D001259:Ataxia / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005528:Foot / Q000473:pathology; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis*; D006225:Hand / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009055:Mouth / Q000473:pathology