Cerebellar Dysplastic Gangliocytoma: Case Report

Lhermitte-Duclos disease (LDD), or cerebellar dysplastic gangliocytoma, is a rare type of cerebellar tumor, from unknown origin. Patients can be asymptomatic for several years, but there are usually imprecise neurological signs for long periods.

A Rare WHO Grade I Lesion of the Posterior Fossa with Recurrence Biological Behavior ­ Dysplastic Gangliocytoma of the Cerebellum: Case Report

Dysplastic gangliocytoma of the cerebellum (DGC) or Lhermitte-Duclos Disease is a rare lesion (World Health Organization [WHO] grade I) characterized by thickened folia and replacement of the internal granular layer by abnormal ganglion cells. More commonly, the compromised patients are young adults presenting ataxia, seizures, obstructive hydrocephalus, and increased intracranial pressure. Dysplastic gangliocytoma of the cerebellum is intimately associated with Cowden syndrome, a hereditary disorder caused by a germline mutation in the PTEN tumor suppressor gene on chromosome 10q23. Large neurons of DCG show vesicular nuclei with prominent nucleoli. Expansion of the internal granular layer determines vacuolization of the molecular layer and white matter, which can be related to the bright stripes identified on T2-weighted magnetic resonance imaging. Herein, the authors report a female patient who developed long- time recurrence of DGC and discuss pathological findings and differential diagnosis of this rare cerebellar lesion.

Síndrome de Cowden / Cowden syndrome

El síndrome de Cowden es una enfermedad hereditaria, de transmisión autosómica dominante, caracterizada por la presencia de múltiples hamartomas y nódulos en la piel y la mucosa oral, junto con anomalías en mamas, tiroides y pólipos en el tracto gastrointestinal, con un riesgo incrementado de tumores malignos. Se reporta un caso de una paciente con diagnóstico de bocio tóxico nodular, y que presentaba -por los antecedentes y estudios realizados- manifestaciones compatibles con el síndrome de Cowden. El síndrome de Cowden es el síndrome hamartomatoso tumoral del phosphatase and tensinhomolog mejor descrito hasta el momento. Los pacientes con él tienen lesiones mucocutáneas características y un elevado riesgo de cáncer de mama, tiroides, endometrio, colorrectal y renal, así como varias manifestaciones benignas como macrocefalia y gangliocitomadisplásico del cerebelo. Es importante el diagnóstico precoz de este síndrome y el seguimiento a largo plazo, dado el alto riesgo de desarrollar tumores malignos(AU)

Cowden syndrome is a hereditary disease, of autosomal dominant transmission, and characterized by the presence of multiple hamartomas and nodules in the skin and oral mucosa, and also with abnormalities in the breast, thyroid, and polyps in the gastrointestinal tract with an increased risk of malignant tumors. It is reported a case of a patient with a diagnosis of toxic nodular goiter, and who presented -due to the antecedents and studies carried out- manifestations compatible with the Cowden syndrome. Cowden syndrome is the hamartomatous tumor syndrome of phosphatase and tensin homolog which is better described so far. Patients having it present characteristic mucocutaneous lesions and a high risk of breast, thyroid, endometrial, colorectal and renal cancers, as well as several benign manifestations such as macrocephaly and gangliocytoma of the cerebellum. Early diagnosis of this syndrome and long-term follow-up are important given the high risk of developing malignant tumors(AU)

Pólipos del colon y recto / Polyps of colon and rectum

Polyp is a descriptive term used with reference to any mass of tisue that projects outward from the normal surface of th gastrointestinal tract. Morson and col. classified this disorder in 1962 in two categories: non-neoplasic (hamartomas) and neoplasic (tubular, villous and mixed). At preent, they are classified between polypoid formations termed serrated polyps, out of whom some can be assigned as potentially malignant. The author of this report describe successively the foloowing conditions: mlignant colorectal polyps, are those presenting an invasive carcinoma, that is with penetration through the muscularis mucosae, involving the regional lymph nodes. Other types: intestinal polyposis, familial adenomatous polyposis Turcot syndrome (malingnant tumors of the central nervous system associated with familial polyposis of the colon) juvenile polyposis; Cowden disease: described since the disease suffered by the patient Rachel Cowden (also termed as multiple hamartomas syndrome) hereditary and preneoplasic with autosomic and dominant transmission, Peutz-Jeghers syndrome: hereditary disease with autonomic and dominant transmission, characterized by a harmatous gastrointestinal polyposis with melanin pigmentation of the skin, and melanin spots of the bucal mucous membrane. Bleeding and anemia are frequent complications. Syndrome of De Ruvalcalva-Myre-Smith: associates hamartosus polyposis juvenile and other disorders as macrocephalia, psychomotor madurative delay and pigmentary changes of the genitalia, and Cronkhite-Canada syndrome, a generalized gastrointestinal polyposis, even those considered benign, can suffer by different causes, a malignant transformation. The author also refers the surgical manament, adenomas and malignant transformation and the development of carcinogenesis. The genetic of adenomas and colerectal cancer, are also considered.