ABSTRACT
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.
Subject(s)
Humans , Female , Adult , Hamartoma Syndrome, Multiple/diagnosis , Cerebellar Neoplasms/diagnosis , Ganglioneuroma/surgery , Ganglioneuroma/diagnosis , Recurrence , Hamartoma Syndrome, Multiple/complications , Hamartoma Syndrome, Multiple/therapy , Ganglioneuroma/physiopathologyABSTRACT
Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.
Subject(s)
Female , Humans , Young Adult , Arteriovenous Malformations/diagnostic imaging , Breast Neoplasms/complications , DNA/analysis , DNA Mutational Analysis , Diagnosis, Differential , Hamartoma Syndrome, Multiple/complications , PTEN Phosphohydrolase/genetics , Thyroid Neoplasms/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
Lhermitte-Duclos disease (LDD; dysplastic cerebellar gangliocytoma) is a rare hamartomatous lesion of the cerebellar cortex and this was first described in 1920. LDD is considered to be part of the autosomal-dominant phacomatosis and cancer syndrome Cowden disease (CS). We examined the brain of a 46-year-old man, who displayed the manifestations of CS, with 7 Tesla (T) and 1.5T MRI and 1.5T MR spectroscopy (1H-MRS). We discuss the possible benefits of employing ultrahigh-field MRI for making the diagnosis of this rare lesion.
Subject(s)
Humans , Male , Middle Aged , Cerebellar Cortex/pathology , Cerebellar Neoplasms/complications , Diagnosis, Differential , Gait Ataxia/etiology , Hamartoma Syndrome, Multiple/complications , Image Processing, Computer-Assisted/methods , Magnetic Resonance Imaging/methods , Magnetic Resonance Spectroscopy/methods , Magnetics , Vertigo/etiologyABSTRACT
Cowden's disease, also known as various hamartomatous malformations of multiple organs, is a rare autosomal dominant disorder. The most important feature of Cowden's disease is its frequent association with malignant neoplasm, particularly in the breast and thyroid gland. Cowden's disease with malignant neoplasms, is quite rare in Korea so far. We report a case of Cowden's disease associated with breast cancer in a 41-year-old female who underwent routine health cheek-up.
Subject(s)
Adult , Female , Humans , Breast Neoplasms/complications , Colonoscopy , Gastrointestinal Tract/pathology , Gastroscopy , Hamartoma Syndrome, Multiple/complications , Polyps/diagnosisABSTRACT
En la segunda parte de este artículo de revisión de las manifestaciones cutáneas de las enfermedades gastrointestinales, se discutirán algunas de las genodermatosis con potencial maligno, que presentan manifestaciones digestivas y dermatológicas y los síndromes asociados a hemorragia gastrointestinal.