Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review

Abstract

Lhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum, is a rare, usually benign, slow-growing tumor, that commonly affects patients aged 30 to 50 years-old. The manifestations of dysplastic cerebellar gangliocytoma are nonspecific and are related both to the mass effect produced by its growth and to the location of the lesion. Cerebellar symptoms such as ataxia are often present. In 40% of cases, the tumor is associated with Cowden syndrome, which is part of a group of genetic disorders called polypoid hamartoma complex. In this case report, the patient presented expansive lesion in the posterior fossa, compatible with LDD, associated with macrocephaly. These findings are considered major criteria for Cowden syndrome. When together, they confirm the diagnoses. To our knowledge, this is the first report of the association of LDD and Cowden syndrome in Brazil.

Resumo

A doença de Lhermitte-Duclos (DLD), também conhecida como gangliocitoma displásico do cerebelo, é um tumor raro, geralmente benigno e de lento crescimento, que geralmente afeta pacientes entre 30 e 50 anos. Suas manifestações são inespecíficas e se relacionam ao efeito de massa produzido por seu crescimento e pela localização da lesão. Comumente, observam-se sintomas cerebelares, como ataxia, dismetria e disdiadococinesia. Em 40% dos casos, a doença encontra-se associada à síndrome de Cowden, a qual faz parte de um grupo de enfermidades genéticas chamado complexo do hamartoma polipoide. No caso relatado, o paciente apresentou lesão expansiva em fossa posterior compatível com DLD, associada à macrocefalia. Esses achados constituem dois critérios maiores, os quais, em conjunto, determinam o diagnóstico de Síndrome de Cowden. Este é o primeiro relato da associação entre DLD e Síndrome de Cowden no Brasil.

Keywords

Lhermitte-Duclos disease - Cowden syndrome - hamartoma syndrome - cerebellum

Palavras-chave

doença de Lhermitte-Duclos - doença de Cowden - síndrome do hamartoma múltiplo - cerebelo

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