The line between benign tumour and hamartoma is thin, if one considers that a hamartoma can be clonal and some benign tumours have a slow growth rate. Tuber cinereum definition of tuber cinereum by medical. While traditionally considered developmental malformation, many hamartomas have clonal chromosomal aberrations that are acquired through somatic mutations and on this basis are now considered to be neoplastic. Surgical andor mr findings showed that patients with precocious puberty had pedunculated lesions while those with seizures had tumors that were sessile with respect to the hypothalamus.
Hamartoma is a word of greek origin, derived from hamartion, which means failure of the body. Tuber cinereum medical definition merriamwebster medical. Hamartomas of the tuber are usually revealed by a very early precocious puberty and gelastic seizures. The term hamartoma is used to describe a nonneoplastic, abnormal, and haphazard overgrowth of conglomerates of mature cells and tissues indigenous to the anatomic site from which it occurs, often with one predominating element 1, 2. It has no evolutionary potential, but association to other cerebral malformations has been observed. Tuber cinereum article about tuber cinereum by the free. Pulmonary hamartoma is the third most frequent cause of solitary pulmonary nodules with an overall prevalence of up to 5. Splenic hamartoma sh, which was first described in 1861 by. Hamartoma of the hypothalamus and tuber cinereum may be regarded as a midline brower, b. The tuber cinereum, part of hypothalamus, is a hollow eminence of gray matter located between the optic chiasm and the mammillary bodies. Nov 04, 2019 armageddon the battle for germany 194445 pdf. Hypothalamic hamartomas, also known as tuber cinereum hamartomas, are benign nonneoplastic heterotopias in the brain that typically occur in the region of the hypothalamus, arising from the tuber cinereum, a part of the hypothalamus located between the mammillary. We report three patients with an isodense, nonenhancing mass within the interpeduncular cistern identified by ct.
Article in german galanski m, bramswig jh, korinthenberg r. If one considers choristoma hamartomas cousin, the line between benign tumour e. Laterally it is continuous with the anterior perforated substances and anteriorly with a thin lamina, the lamina terminalis. Radiologic findings of hamartomas of the tuber cinereum.
Dec 20, 2018 pulmonary hamartoma or hamartoma of lung is a benign tumor of the lung, which can occur either in the lung tissue or within the bronchial airways these lung tumors are generally solitary and are observed in middleaged and older adults. Hamartoma del tuber cinereum pdf most popular pdf sites. The typical findings and the lack of signal enhancement with contrast medium strongly suggested a diagnosis of tuber cinereum hamartoma. Five cases, four histologically proved, of hamartoma of the tuber cinereum and hypothalamus in children age range. About europe pmc funders joining europe pmc governance roadmap outreach. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Caudally, the hypothalamus is not sharply demarcated, merging instead into. N2 imaging description pulmonary hamartomas are the most common benign tumor in the lungs. This is a crosssection, the growth being about 9 cm in diameter, while the spleen is actually about 11 cm. Hypothalamic hamartoma is one of the most important causes and is notable in that puberty associated with hh can occur at particularly early ages, even prior to 12 months of age in some patients. To develop an anatomical classification scheme for combined hamartoma of the retina and retinal pigment epithelium rpe and specify recommendations for followup interval. Lhrhcontaining neurons in some hamartomas has led to the con cept that.
Neoplasm, hamartoma, teratoma, hyperplasia medicopedia. Hamartoma of the tuber cinereum is a relatively rare malformation of the. Branches of anterior choroidal artery to tuber cinereum rami tuberis cinerei arteria choroideae anterior anatomical parts. The clinical spectrum of hypothalamic hamartoma is quite variable. First, the rarity with which the two apparently combine makes it. In addition to the ventral hypothalamus, the tuber cinereum includes the median eminence and pituitary gland. Tuber cinereum hamartoma is a benign tumor in which a disorganized collection of neurons and glia accumulate at the tuber cinereum of the hypothalamus on. Any nodularity within should raise the suspicion of a tuber cinereum hypothalamic hamartoma. Formation occurs during embryogenesis, typically between days 33 and 41. The floor of the 3rd ventricle from the pituitary stalk to the mammillary bodies is called the tuber cinereum.
Pulmonary hamartoma or hamartoma of lung is a benign tumor of the lung, which can occur either in the lung tissue or within the bronchial airways these lung tumors are generally solitary and are observed in middleaged and older adults. From the under surface of the tuber cinereum a hollow conical process, the infundibulum, projects downward and forward. Hamartomas of the tuber cinereum are tumourlike collections of normal tissue in abnormal location. Mr imaging and spectroscopic study of epileptogenic. One of the patients developed epileptic encephalopathy. Small, nonenhancing mass lesion contiguous with the tuber cinereum is almost always diagnostic of tuber cinereum. They are benign lesions with slow or absent growth and without any tendency to neoplastic evolution.
Pdf stereotactic disconnection of hypothalamic hamartoma to. Hypothalamic hamartoma is a benign tumor composed of disorganized collections of neurons and glia. Three cases had pubertas praecox, and in all of these the hamartoma was located in the basal cistern between the chiasm and pons, and had a collar button shape and size typical of hamartoma of the tuber. A developmentally delayed 28monthold male toddler was referred to us for brain mri. The tuber cinereum typically buckles over the dorsum sella a second characteristic sign of central incisural herniation, which creates a pocket of csf within the lower third ventricle. It is a congenital malformation, included on the spectrum of gray matter heterotopias. Hypothalamic hamartomas are rare congenital nonneoplastic heterotopias. The hamartoma can occur in almost any organ and is usually asymptomatic. Noun ennoun pathology a benign mass of disorganized tissue.
Devoid of the blood brain barrier, it normally enhances after contrast administration. Illustrated anatomical parts with images from eanatomy and descriptions of anatomical structures. Of girls with cpp studied at the national institutes of health, 16% had a hypothalamic hamartoma, 40% had other cns abnormalities, and 60% had. Apr 27, 2016 the tuber cinereum, part of hypothalamus, is a hollow eminence of gray matter located between the optic chiasm and the mammillary bodies. Mr imaging and spectroscopy of a tuber cinereum hamartoma in a patient with growth hormone deficiency and hypogonadotropic. Pulmonary hamartomas are more common than expected because they are usually asymptomatic and are either discovered on routine chest radiography or when they are noted incidentally in approximately 0. Hypothalamic hamartoma radiology reference article. Combined hamartoma of the retina and retina pigment epithelium chrrpe contributor. A 5yearold male initially presented in 2004 complaining of decreased vision in the left eye for at least the prior six months. To the authors knowledge, the cytology of these lesions has. Gelastic epilepsy and hypothalamic hamartomas oxford academic. Before 1980, only 37 patients were in the literature with hamartomas of the tuber cinereum, but many more have been reported since the advent of ct and mri brain scans see fig.
Hypothalamic hamartoma nord national organization for rare. The lateral tuberal nuclei are groups of cells deep to the tuber cinereum. The mri examination detected a small mass in the centre of hypothalamus behind the pituitary stalk. Hypothalamic sulcus an overview sciencedirect topics. As nouns the difference between hamartoma and choristoma is that hamartoma is pathology a benign mass of disorganized tissue while choristoma is a collection of normal cells in an abnormal location example. Tuber cinereum hamartoma is a benign tumor in which a disorganized collection of neurons and glia accumulate at the tuber cinereum of the hypothalamus on the floor of the third ventricle.
The health consequences of abnormally early puberty include short stature and problems with ageappropriate psychosocial adjustment. Hamartomas of the tuber cinereum are not true neoplasms, 358,359,669 as longterm followup demonstrated lack of growth on monitoring by periodic ct or mri. A hamartoma of the tuber cinereum usually presents as precocious puberty in a young child. Proton mr spectroscopy of the hypothalamic hamartoma was. Imaging is best with thinsection coronal and sagittal mri.
Early reports on combined hamartomas describe lesions that were clinically mistaken for choroidal malignancy. Central precocious puberty due to hypothalamic hamartomas. A hamartoma is a mostly benign, focal malformation that resembles a neoplasm in the tissue of its origin. All of those conditions are types of different cell growth disturbances. Examples are chondrosarcomas arising in osteochondromas and neurofibrosarcomas arising in. The hamartoma is the dark circular object on the left that dominates the image. It grows at the same rate as the surrounding tissue.
Hamartoma definition of hamartoma by medical dictionary. Pdf an 18yearold boy with refractory epilepsy and aggressiveness associated to a hypothalamic. The clinical presentation, fundus examination, and optical coherence. The tuber cinereum is a hollow eminence of the middleventral hypothalamus, specifically the arcuate nucleus, situated between the mammillary bodies and the optic chiasm. Tuber cinereum is a hollow eminence of gray matter. Histopathologically, these lesions were described as hyperplastic retinal pigment epithelium and were located juxtapapillary, in the posterior pole or peripherally. The tuber cinereum is a hollow eminence of gray substance situated between the corpora mammillaria behind, and the optic chiasma in front. Breast hamartoma is an unusual, wellcircumscribed, tumorlike mass entering into the differential diagnosis of benign breast disease. A comparison of mr and ct findings in four cases hamartoma of the tuber cinereum is a wellrecognized cause central precocious puberty. An objective study of anatomic shifts in intracranial hypotension using four anatomic planes. Combined hamartoma of the retina and retina pigment. Hamartomas tend to occur in children and young adults but are very rare in elderly people. Combined hamartoma of the retinal pigment epithelium and.
The sections show lung with a well circumscribed lesion with a fibrous capsule partially lined by respiratorytype epithelium. However, cases of neoplastic evolution have occurred with these lesions. Coronal section, t2weighted sequence, showing a tuber cinereum hamartoma. Hamartomas of the hypothalamus and tuber cinereum a variety of bony hamartomas a hamartoma resembles a neoplasm, but in most cases, it does not show any tendency to evolve into one. Tuber cinereum definition of tuber cinereum by the free. Oct 09, 2019 a hamartoma resembles a neoplasm, but in most cases, it does not show any tendency to evolve into one. Hypothalamic hamartomas hh are rare congenital malformations 12 100 000 incidence 1 located in the region of the tuber cinereum and. Together with the hollow itself, it is sometimes referred to as the pituitary stalk. Formation occurs during embryogenesis, typically between days 33 and 41 of gestation. In this article, ill only try to mention the main tricky differences between them.
Precocious puberty due to a hypothalamic late middle age. Tuber cinereum diverticula in a 28monthold with xq21. Hypothalamic hamartomas, also known as tuber cinereum hamartomas, are benign nonneoplastic heterotopias in the brain that typically occur in the region of. Hamartoma of the lung a clinical study of 25 cases t. Combined hamartoma of the retinal pigment epithelium and retina. The hamartoma of the tuber cinereum, a midline dysraphic syndrome, corresponds to a mass of normal neuronal tissue implanted in the area of the mamillary bodies. Subsequent chromosomal microarray showed an xq21 deletion. They present as solitary, round, wellcircumscribed soft tissue opacities in the lung parenchyma on ct imaging. It is located between mammillary bodies and optic chiasm. In contrast, pulmonary fibroleiomyomatous hamartoma, which consists of interlacing bundles of smooth muscle cells admixed with fibrous tissue and numerous.
The most common example of an hamartoma is pulmonary hamartoma. A benign noncancerous tumorlike growth consisting of a disorganized mixture of cells and tissues normally found in the area of the body where the growth occurs. Hypothalamic hamartoma assoc prof craig hacking and dr donna dsouza et al. It contains all the tissues you can expect to see in a lung, like fat, cartilage, connective tissue, etc. Hamartoma chondroadenoma is a rare benign lesion that can occur in different tissues like cartilage, bone and fibrous cells. The diagnosis and management of hypothalamic hamartomas in. It is important to note that the lesion is not malignant. We present a case of xq21 deletion syndrome with midline brain anomalies and a novel. Some hypothalamic hamartomas contain transforming growth. Hypothalamic hamartomas present with isolated fits of ictal laughter gelastic epilepsy or a combination of gelastic. Hypothalamic hamartoma is a nonneoplasic heterotopia that typically occurs in the region of the hypothalamus. Tuber cinereum hamartoma italian ministry of health.
284 965 350 640 938 657 407 260 422 1482 99 60 689 1254 1122 1477 226 684 281 510 583 561 623 1420 642 652 235 838 442 382 346 968 987 81 913 849 927 923 1172 552 939 1343 497 1183