Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia

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...

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Published inThe National medical journal of India Vol. 28; no. 2; pp. 74 - 76
Main Authors Arun, K A, Sreejith, R, Hitha, B, Geetha, P, Sasidharan, P K
Format Journal Article
LanguageEnglish
Published India 01.03.2015
Subjects
Ataxia - diagnosis
Diagnosis, Differential
Foot - pathology
Hamartoma Syndrome, Multiple - diagnosis
Hand - pathology
Humans
Male
Middle Aged
Mouth - pathology
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Summary: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.
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ISSN:0970-258X