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PubMed1998

Giant hamartoma of the lung.

In the following case of giant pulmonary hamartoma, a 62-year-old woman exhibited a huge tumor shadow in the right lung field, whilst remaining asymptomatic. A thoracotomy revealed a solid intrapulmonary mass histologically diagnosed as a cartilaginous hamartoma with no evidence of malignancy. The tumor was resected by enucleation and there has been no recurrence for 40 months since surgery. Parenchyma-saving enucleation or excision is a safe and sufficient procedure for peripheral hamartomas of any size.

Female↗
PubMed2005

Evaluation of small hypothalamic hamartomas with 3D constructive interference in steady state (CISS) sequence.

Hypothalamic hamartomas are relatively rare, non-neoplastic congenital malformations. With conventional MR images alone, small hypothalamic hamartomas may be difficult to diagnose because of artifacts from cerebrospinal fluid. We present the usefulness of three-dimensional constructive interference in steady state sequence for evaluating small hypothalamic hamartomas in three pediatric patients.

Child, Preschool↗
PubMed2006

Endoscopic surgery for hypothalamic hamartomas causing medically refractory gelastic epilepsy.

INTRODUCTION: There is increasing evidence that removal or disconnection of hypothalamic hamartomas can lead to seizure control and improvement in behavior. The purpose of this study is to report our experiences with endoscopic removal of these hamartomas. METHODS: This is a prospective review of the early outcome of 44 patients undergoing endoscopic resection utilizing frameless stereotaxis and a micromanipulator. RESULTS: All patients had normal-sized ventricles. Complete removal was possible in 14 patients, 13 of whom were seizure free at follow-up. Four patients suffered complications that have persisted for more than 3 months: One had significant hemiparesis and three had persistent difficulties with short-term memory. Postoperatively, no patient suffered a permanent hormonal deficiency. In one patient who had undergone a previous attempt at transcallosal resection, the procedure was abandoned because of the lack of internal anatomic landmarks. In a second patient, insufficient mass could be removed due to the size of the lesion and the distorted anatomy. Consequently, 1 week later, the patient underwent a transcallosal approach. CONCLUSION: In appropriately selected patients, sessile hypothalamic hamartomas can be removed completely or they can be completely disconnected from the hypothalamus with an acceptable risk. At least a year after surgery is needed to evaluate the efficacy of the procedure in terms of control of seizures and improvements in behavior and emotional ability.

Adolescent↗
PubMed1998

Myoepithelial hamartoma of the duodenal wall.

A rare case of myoepithelial hamartoma of the duodenal wall is presented, and previous case reports found in the literature are reviewed. Myoepithelial hamartomas are thought to arise from displaced pancreatic anlage present along the gastrointestinal tract during embryogenesis, which can differentiate into various pancreatic elements; the most highly differentiated form is heterotopic pancreas. An alternative theory is pancreatic metaplasia of endodermal tissues. We describe a 41-year-old man who presented with abdominal pain and vomiting. CT scanning revealed a mass at the head of the pancreas. A pancreaticoduodenectomy was performed for presumed cystadenoma. Histology of the mass revealed a disorderly arrangement of smooth muscle, dilated and nondilated ducts, pancreatic acinar tissue and mucus glands. The relationship of myoepithelial hamartomas involving the small bowel to similar lesions in the stomach, bile ducts and gallbladder is discussed.

Adult↗
PubMedDate not supplied

Concurrent infantile hemangioendothelioma and mesenchymal hamartoma in a developmentally arrested liver of an infant requiring hepatic transplantation.

A newborn female underwent a surgical resection for a hepatic mass discovered prenatally by ultrasonography, and diagnosed pathologically as a mesenchymal hamartoma. Within 4 months after surgery, multiple cutaneous hemangiomas developed and a multinodular mass was detected in the liver. A liver biopsy showed an infantile hemangioendothelioma with type I features. An orthotopic liver transplant was performed due to the extensive nature of the hepatic involvement and progressive respiratory compromise. Virtually the entire liver was involved by a large infantile hemangioendothelioma. A multicystic mesenchymal hamartoma was also found on the left side. In addition, the uninvolved hepatic parenchyma had features recapitulating the fetal liver. This simultaneous involvement of the liver by a mesenchymal hamartoma and infantile hemangioendothelioma is unique. A review of the literature revealed only one incompletely characterized case with similar findings.

Female↗
PubMed2004

Lumbar meningeal hamartoma and epidermoid cyst associated with spinal dysraphism in an elderly patient.

Meningeal hamartoma associated with spinal dysraphism in an elderly patient is an extremely rare clinical presentation. A 62-year-old woman who progressively developed gait disturbance and urinary retention was admitted to our hospital. Magnetic resonance imaging (MRI) revealed a large cystic mass associated with a dermal sinus at the L4-L5 level. MRI was useful in the diagnosis and determination of this lesion. However, preoperative differential diagnosis of the tumor was not possible based on neuroimaging evidence. The diagnosis of meningeal hamartoma was based on the histological and immunohistological findings of the specimen obtained from the tumor. Meningeal hamartoma associated with spinal dysraphism should be kept in mind, even in adult cases. In this article, we also discuss the radiological and pathological appearance of this rare clinical entity.

Epidermal Cyst↗
PubMed2006

Hemoclip-assisted polypectomy of large duodenal Brunner's gland hamartoma.

Brunner's gland hamartoma, also known as Brunneroma or Brunner's gland adenoma, is a rare tumor of the duodenum and an uncommon cause of gastrointestinal bleeding. In symptomatic patients, treatment requires either surgical resection or endoscopic polypectomy. We report a case of upper gastrointestinal bleeding from a pedunculated Brunner's gland hamartoma in the duodenal bulb. A new technique using hemoclip-assisted polypectomy is described to remove a large pedunculated Brunner's gland hamartoma.

Aged↗
PubMed2005

Intraventricular glioneuronal hamartoma: histopathological correlation with magnetic resonance spectroscopy.

Intraventricular hamartomas are extremely uncommon lesions outside of a setting of tuberous sclerosis. The second case of its kind in medical literature is presented and its possible aetiopathogenesis, imaging characteristics, pathognomonic magnetic resonance spectroscopy (MRS) and histopathology are discussed. An 11-year-old male presented with a seizure disorder for one year, with headache and vomiting for 15 days. Computerized tomography (CT) revealed a non-enhancing, heterogeneous, left-sided, trigonal lesion with areas of calcification trapping the left frontal horn. Magnetic resonance imaging (MRI) indicated that the lesion was iso to hypointense on T1 weighted images (T1WI) and iso to hyperintense on T2 weighted images (T2WI). A pathognomonic neurochemical signature was elicited on (1)H MRS showing low N-acetylaspartate resonance and normal creatine:choline ratios. Radical decompression of the tumor resulted in an excellent outcome. The diagnosis was established by positive immunohistochemical reactivity for synaptophysin, glial fibrillary acidic protein (GFAP) and myelin basic protein. This is the first case report in existing medical literature in which a histopathological correlation is available for a hamartoma with an unequivocal MRS signal. The authors advocate the use of MRS in patients with tuberous sclerosis or neurofibromatosis with suspected hamartomas to distinguish these benign lesions from gliomas prior to a surgical exploration.

Cerebral Ventricles↗
PubMed2005

Aortic valve lipomatous hamartoma in a young woman.

We present a rare case of lipomatous hamartoma of the aortic valve. A 17-year-old woman was admitted with cardiac murmur. Echocardiography demonstrated severe aortic regurgitation and a highly echoic mass on the right cusp of the aortic valve. Surgery was performed with a differential diagnosis of chronic infective endocarditis or aortic valve tumor. At operation, a yellowish bead-shaped tumor was detected on the right cusp of the aortic valve, and aortic valve replacement was performed. Histopathological examination confirmed a lipomatous hamartoma. To the best of our knowledge, this is the first reported case of a lipomatous hamartoma located on the aortic valve.

Adolescent↗
PubMed1994

Hamartomas of the chest wall in infants.

Chest wall hamartomas in infancy are rare lesions with distinct clinical, radiologic, and pathologic characteristics. Four cases treated at Children's Hospital of Los Angeles are presented and previously reported cases are reviewed. Chest wall hamartomas arise antenatally and present as hard, immobile masses, which may cause respiratory insufficiency. An extrapleural mass arising from the ribs can be seen radiographically. Histologically, these lesions are hypercellular and consist of a disorganized array of mesenchymal tissues endogenous to the chest wall. Rapid growth may occur, but usually is self-limited. Chest wall hamartomas are usually benign. This series includes the malignant transformation of one of these lesions. En bloc resection is curative, but the large residual chest wall defect frequently results in scoliosis.

Biopsy↗
PubMed1984

Subpleural pulmonary hamartoma: demonstration by computed tomography.

A case of a subpleural pulmonary hamartoma demonstrated by computed tomography is presented. The literature on subpleural pulmonary lesions demonstrated by computed tomography is reviewed. Although peripheral pulmonary hamartomas have been well documented, we believe this is the first demonstration of a subpleural location by computed tomography scanning. In the appropriate clinical setting, pulmonary hamartoma should be included in the differential diagnosis of subpleural lesions identified on computed tomography scanning of the chest.

Aged↗
PubMed1995

A hamartoma of the breast with an aberration of 12q mapped to the MAR region by fluorescence in situ hybridization.

Cytogenetic studies of a breast adenolipoma (hamartoma) of a 58-year-old patient revealed a karyotype 46,XX,add(4)(?),add(6)(q?),der(7)t(7;12)(q11.1 or q11.2;q11 or q12),der(12). To our knowledge, this is the second report of an aberration involving 12q12-15 in a hamartoma of the breast. By FISH studies, we found this chromosome 12 translocation breakpoint to be mapping within the MAR (Multiple Aberration Region). MAR is known to be a major cluster region of chromosome 12 breakpoints of benign solid tumors such as uterine leiomyoma, lipoma, and pleomorphic salivary gland adenomas, therefore raising the possibility that the same gene is involved in hamartoma of the breast as in these three benign solid tumors.

Breast Neoplasms↗
PubMedDate not supplied

MRI findings of hypothalamic hamartoma: report of five cases and review of the literature.

Hypothalamic hamartoma is a relatively rare congenital malformation, associated with the clinical presentation of precocious puberty of central type. Five cases with hypothalamic hamartoma are reported here, with an emphasis on MR appearance. The most common presentation of hypothalamic hamartoma was a small and well defined mass in the inferior aspect of the hypothalamus, showing isointensity on T1 weighted images and hyperintensity on T2 weighted images compared with the gray matter. The previous reports with MRI description are reviewed and compared with the present results.

Child, Preschool↗
PubMed2005

Optical coherence tomography in presumed congenital simple hamartoma of retinal pigment epithelium.

PURPOSE: To report the optical coherence tomography (OCT) findings in two cases of presumed congenital simple retinal pigment epithelial (RPE) hamartoma. DESIGN: Observational case report. METHODS: Fundus examination, fluorescein angiography, ultrasonography, and OCT were done on two cases of simple RPE hamartoma. RESULTS: A heavily pigmented solitary macular lesion was noted in the right eye of a 22-year-old man and a 55-year-old woman. The young man had a foveal lesion and a vision of 10/200; the woman with eccentric lesion had a vision of 20/20. The lesions blocked fluorescence on angiogram; sonography showed hyper-reflective nodules. OCT demonstrated full-thickness retinal replacement, complete optical shadowing, and abrupt margins of the lesion in both the cases, and vitreomacular adhesion at the temporal margin of the foveal lesion. CONCLUSIONS: Congenital simple RPE hamartoma may rarely occur at the foveal center, resulting in poor visual acuity. OCT is a useful non-invasive adjunct for diagnosis of this rare tumor and may reveal additional features like vitreoretinal adhesion.

Adult↗
PubMed2005

[Evolution of sebaceous hamartoma: prospective pathologic study illustrated with a voluminous ear location].

After an exeresis of a sebaceous hamartoma of retroauricular area, histologic examination showed a trichoblastoma mimicking a basal cell carcinoma. So we realized a retrospective study with histologic examination of 24 cases of basal cell carcinoma after hamartoma. On 24 cases, 19 were not basal cell carcinoma, but trichoblastoma. So the study goes in the same direction of the world literature: hamartoma have a minimal risk of basal cell carcinoma transformation. Exeresis is indicated because of the risk of evolution to a hypertrophic tumour.

Basal Cell Carcinoma↗
PubMed2004

Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents.

BACKGROUND: Hypothalamic hamartoma with gelastic seizures (HHGS) is an uncommon, often unrecognized, epileptic syndrome with onset of symptoms during childhood. AIM: In order to study the occurrence, clinical symptoms and different investigations of HHGS in Swedish children and adolescents, a nationwide survey was undertaken. Methods. Twelve patients, three females, aged 5 to 19 years were identified and their hospital records reviewed. MRI examinations were reinvestigated. RESULTS: Gelastic seizures were noted before the age of six months in seven patients in at least three as early as the neonatal period. During the course of disease one or more other seizure types developed in 11 patients. Behaviour disorder became subsequently obvious in ten patients, and mental retardation was diagnosed in seven. Precocious puberty was diagnosed in five patients. A total of 46 MRI examinations were performed in 11 patients, revealing hypothalamic tumors, eight of which were drooping with a broad base. Interictal and ictal EEG examinations were pathological in 10 patients with nonspecific results. Nonspecific results were also found on SPECT and PET performed in six and two patients, respectively. Available antiepileptic drugs had little or no effect on gelastic seizures, but some effect on other seizure types. Precocious puberty was treated with a GnRH-agonist. Neurosurgical treatment of the hypothalamic hamartoma, performed in three patients, had a rather good outcome concerning gelastic seizures and behaviour. Vagal nerve stimulation in five patients had no effect. CONCLUSIONS: Review of the literature and experience from this group's own cases confirms that early diagnosis of HHGS is important. Hypothalamic hamartoma should be considered in any child with laughing attacks. MRI investigation is compulsory, and neurosurgery the most important treatment.

Adolescent↗
PubMed2006

Optical coherence tomography of retinal astrocytic hamartoma in 15 cases.

OBJECTIVE: To describe the features of retinal astrocytic hamartoma using optical coherence tomography (OCT). DESIGN: Retrospective, observational, noncomparative case series. PARTICIPANTS: Fifteen consecutive eyes from 14 patients with retinal astrocytic hamartoma. MAIN OUTCOME MEASURES: Optical coherence tomography characteristics of the tumor. RESULTS: The mean patient age at OCT was 33 years, and tuberous sclerosis was present in 3 patients (21%). By ophthalmoscopy, the mean basal diameter of the tumor was 3.6 mm. By OCT, the tumor showed hyperreflectivity at its surface, internal retinal disorganization, and a gradual gently sloping transition from a normal retina into a tumorous retina in all 15 cases (100%). By OCT, the retinal disorganization was limited to the inner retina in 3 (20%), outer retina in 0 (0%), full retina in 5 (33%), and inner retina with no view of deeper layers due to shadowing in 7 (47%). On OCT, there was mild retinal traction on the surface of the tumor in 4 (27%), discrete internal moth-eaten optically empty spaces representing intralesional calcification or intratumoral cavities in 10 (67%), and optical shadowing posterior to the tumor in 14 (93%). Other retinal findings on OCT included shallow elevation of the adjacent retina in 2 (13%), adjacent retinal edema in 4 (27%), and macular edema in 3 (20%). CONCLUSIONS: Retinal astrocytic hamartoma shows characteristic features on OCT, including a gradual transition from a normal retina into an optically hyperreflective mass with retinal disorganization, characteristic moth-eaten spaces, and posterior shadowing.

Adolescent↗
PubMed2006

Ocular vascular hamartomas: the relationship with phakomatoses and possible commonalities in pathogenesis.

BACKGROUND: Ocular vascular hamartomas may present as isolated lesions or as part of a multisystemic congenital syndrome known as vascular phakomatoses. These syndromes are characterized by ocular, cerebral, and cutaneous lesions. Although each of these lesions manifests distinct characteristics, there may be overlapping characteristics and manifestations attributable to a common pathogenesis. METHODS: A case series and a literature review are presented illustrating ocular and systemic manifestations associated with vascular hamartomas, with each case representing varying degrees of ocular and systemic expression. CONCLUSION: Because of the potential ocular morbidity and systemic mortality associated with vascular hamartomas and associated syndromes, the optometrist plays an important role in the management of these patients. In general, understanding the pathogenesis of these diseases may contribute to future treatment and prevention opportunities.

Adult↗