Brunner's gland hamartomas are rare tumors of duodenum, they are often discovered incidentally during esophagogastroduodenoscopy or upper gastrointestinal series. These tumors arise mainly in the duodenal bulb and can present with gastrointestinal hemorrhage and intestinal obstruction. Most of Brunner's gland hamartomas are located within the range of the standard esophagogastroduodenoscope. However, they are rarely located below the third portion of duodenum. As well known, the small intestine, including the 4th portion of duodenum, jejunum, and ileum, is relatively inaccessible with routine endoscopy. Thus, the diagnosis of Brunner's gland hamartoma in these area can be delayed up to several months after onset of symptoms. We report a case of Brunner's gland hamartoma which was located in the fourth portion of the duodenum and presented as obscure gastrointestinal hemorrhage. Radiologic, surgical, and pathologic appearances are presented.
Brunner Glands ; Duodenal Diseases/*complications/diagnosis ; Female ; Gastrointestinal Hemorrhage/*etiology ; Hamartoma/*complications/diagnosis ; Humans ; Middle Aged

Adult ; Female ; Hamartoma ; complications ; diagnosis ; surgery ; Humans ; Kidney Calculi ; complications ; Spleen ; pathology ; surgery ; Splenectomy ; methods ; Splenic Diseases ; complications ; diagnosis ; surgery

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.
Adult ; Breast Neoplasms/*complications/pathology ; Colonoscopy ; Female ; Gastrointestinal Tract/pathology ; Gastroscopy ; Hamartoma Syndrome, Multiple/complications/*diagnosis ; Humans ; Polyps/diagnosis

A 5-year-old girl was diagnosed with neurofibromatosis type 2 (NF-2) due to multiple neurofibromas, cafe-au-lait spots, and schwannomas of the brain. During ophthalmologic evaluation, a posterior subcapsular cataract and a gray-green colored subretinal lesion were found in right eye. Fluorescein angiography (FA) revealed a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). At age 9, she underwent cataract surgery. At this time FA and spectral-domain optical coherence tomography (SD-OCT) were taken. The SD-OCT showed an elevated hyperreflective mass in the retina with prominent attenuation of the inner and outer retina, but minimal attenuation in the photoreceptor layers. The underlying retina appeared to be disorganized and thick (791 microm). This is the first case report of SD-OCT imaging of a CHRRPE associated with NF-2 in a pediatric patient. By using SD-OCT in this patient, we could obtain detailed tumor characteristics, and SD-OCT may be helpful in the diagnosis and management of CHRRPE.
Child, Preschool ; Diagnosis, Differential ; Female ; Hamartoma/complications/*diagnosis ; Humans ; Neurofibromatosis 2/*complications/diagnosis ; Retinal Diseases/complications/*diagnosis ; Retinal Pigment Epithelium/*pathology ; Tomography, Optical Coherence/*methods ; Visual Acuity

OBJECTIVETo study clinical and imaging features of hypothalamic hamartoma in children.

METHODSImaging findings and clinical manifestations of 38 children with hypothalamic hamartomas were retrospectively reviewed. The patients included 25 boys and 13 girls, ranging in age of onset from 1 month to 15 years. All the 38 patients were examined with pre-contrast and post-contrast T1 weighted MR imaging and with non-contrast T2 weighted MR imaging. Meanwhile, 10 patients received CT scan. Hypothalamic hamartomas were confimed by pathologic examinations in the 38 patients.

RESULTSGelastic epilepsy, precocious puberty, other types of epilepsy and disturbance of intelligence were main manifestations in the 38 patients. Gelastic epilepsy was found as an initial clinical symptom in 17 cases, precocious puberty in 13 cases and other types of epilepsy in 8 cases. All masses were located in the suprasellar and interpeduncular cistern. They showed iso-density on CT scan, and homogeneous signal iso-intense to gray matter on T1 and T2 weighted MR images. With contrast MR images, there was no enhancement in the mass. The size or pedunculation of the mass was not correlated with clinical features.

CONCLUSIONSHypothalamic hamartoma may be characterized by precocious puberty and/or gelastic epilepsy and specific imaging findings mentioned above.

Adolescent ; Adult ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Hamartoma ; complications ; diagnosis ; pathology ; Humans ; Hypothalamic Neoplasms ; complications ; diagnosis ; pathology ; Infant ; Magnetic Resonance Imaging ; Male ; Tomography, X-Ray Computed

Child ; Epilepsies, Partial ; etiology ; Hamartoma ; complications ; diagnosis ; pathology ; Humans ; Hypothalamic Diseases ; complications ; diagnosis ; pathology ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Male ; Puberty, Precocious ; etiology

No abstract available.
Adult ; Biopsy ; *Brunner Glands/pathology/surgery ; Duodenal Diseases/*complications/diagnosis/surgery ; Duodenal Obstruction/diagnosis/*etiology/surgery ; Duodenoscopy ; Gastric Outlet Obstruction/diagnosis/*etiology/surgery ; Hamartoma/*complications/diagnosis/surgery ; Humans ; Male ; Tomography, X-Ray Computed ; Treatment Outcome

Adult ; Facial Neoplasms ; diagnosis ; etiology ; pathology ; Fibroma ; diagnosis ; etiology ; pathology ; Forehead ; Hamartoma Syndrome, Multiple ; complications ; diagnosis ; pathology ; Humans ; Male ; Mouth Neoplasms ; diagnosis ; etiology ; Papilloma ; diagnosis ; etiology ; Skin Neoplasms ; diagnosis ; etiology ; pathology

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.
Arteriovenous Malformations/radiography ; Breast Neoplasms/*complications/*diagnosis/ultrasonography ; DNA/analysis ; DNA Mutational Analysis ; Diagnosis, Differential ; Female ; Hamartoma Syndrome, Multiple/*complications/*diagnosis/genetics/ultrasonography ; Humans ; PTEN Phosphohydrolase/genetics ; Thyroid Neoplasms/radiography ; Tomography, X-Ray Computed ; Young Adult

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.
Cerebellar Cortex/pathology ; Cerebellar Neoplasms/complications/*pathology ; Diagnosis, Differential ; Gait Ataxia/etiology ; Hamartoma Syndrome, Multiple/complications/*pathology ; Humans ; Image Processing, Computer-Assisted/methods ; Magnetic Resonance Imaging/*methods ; Magnetic Resonance Spectroscopy/methods ; Magnetics ; Male ; Middle Aged ; Vertigo/etiology