However, clinical protocol of hh is poorly understood. Pulmonary chondroma has been used interchangeably with pulmonary hamartoma in the past but they should be considered separate entities due to histological differences 14 epidemiology. German hamartom, greek hamartanein, to miss the mark, go wrong, german om, oma. 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. Mar 10, 2011 a hamartoma is a benign growth composed of an abnormal mixture of epithelial and mesenchymal elements.
An uncommon benign tumor article pdf available in american journal of case reports 9. Most isolated hamartomas are benign but in cowdens disease there is a risk that one or more may undergo malignant change. Wed like to understand how you use our websites in order to improve them. Although it is the second most common benign tumor in childhood, only about 100 cases have been reported in the english literature. If one considers choristoma hamartomas cousin, the line between benign tumour e. Hamartoma, which means scribble error, is a tumorlike proliferation of both the cells and tissues of the normal spleen. Breast hamartoma is an uncommon breast tumor that accounts for approximately 4. Hhs can be pedunculated, usually associated to central precocious puberty, or sessile, associated with epilepsy with gelastic seizures that are commonly refractory to treatment.
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. The prevalence of epilepsy associated with hh is estimated at 1 in 200,000 1. The mechanism of epileptogenesis is found in the microarchitecture of the hamartoma, which consists of small gabaergic neurons generating clusters which fire spontaneously. Jett, in clinical respiratory medicine third edition, 2008. Neuropsychiatric profile of paediatric hypothalamic. However, with increasing social awareness and widespread breast cancer screening, hamartomas are being routinely diagnosed with greater. A brief analysis of the clinical features and treatment is performed. Neuropsychiatric profile of paediatric hypothalamic hamartoma. 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. Surgical treatment and outcome of pulmonary hamartoma. Hamartoma definition of hamartoma by the free dictionary. Hamartomas tend to occur in children and young adults but are very rare in elderly people.
We retrospectively analysed case notes for all individuals with hypothalamic hamartoma referred to great ormond street. A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell monoclonality, as would typically define a benign neoplasmtumor. Hypothalamic hamartoma assoc prof craig hacking and dr donna dsouza et al. Hypothalamic hamartoma is a rare benign brain tumour located near the hypothalamus. Since 2002, department pediatric neurosurgery of xinhua hospital has maintained a multidisciplinary clinical program. 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. Breast hamartoma is an unusual, wellcircumscribed, tumorlike mass entering into the differential diagnosis of benign breast disease. Forms of clinical presentation of hypothalamic hamartoma elsevier.
Patients usually present in the 4 th and 5 th decades of life and they are very uncommon in children. The age of onset of epilepsy in patients with hypothalamic hamartoma in our series was. Coronal section, t2weighted sequence, showing a tuber cinereum hamartoma. Selected images from an mri of the brain demonstrate a rounded mass in the region of the hypothalamus, projecting inferiorly, behind the infundibulum of the pituitary gland. To evaluate neuropsychiatric comorbidities in children and adolescents with hypothalamic hamartoma. Hamartoma medical definition merriamwebster medical. 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.
Oct 09, 2019 a hamartoma resembles a neoplasm, but in most cases, it does not show any tendency to evolve into one. Hamartoma definition of hamartoma by medical dictionary. Forms of clinical presentation of hypothalamic hamartoma anales. It is important to note that the lesion is not malignant. A hamartoma resembles a neoplasm, but in most cases, it does not show any tendency to evolve into one. Forms of clinical presentation of hypothalamic hamartoma. Because their growth is limited, hamartomas are not true tumours.
The association between hypothalamic hamartoma and gelastic epilepsy has been described several years ago. Hamartomas definition of hamartomas by medical dictionary. Mesenchymal hamartoma of the liver mhl is a benign lesion that classically presents as an enlarging abdominal mass in children before the age of two. Every patient, with the exception of the first, underwent hamartoma disconnection pterional approach, six patients. Recent advances in treating hh have led to dramatic improvements. T1 sagittal view showing hypothalamic hamartoma in patient 1 a and patient 2 b. While malignant tumours contain poorly differentiated cells, hamartomas consist of distinct cell types retaining normal functions. On shortte proton mr spectra, the n acetylaspartate concentration in the hamartoma was lower than that in the thalamus but similar.
The prevalence is of 12 cases per 100 000 inhabitants. Epilepsy is the main neurologic manifestation of hypothalamic hamartoma hh. Pulmonary chondroma has been used interchangeably with pulmonary hamartoma in the past but they should be considered separate entities due to histological differences 14. Clinical findings resemble fibroadenoma and if there is a palpable mass, the patients may receive an immediate diagnosis. Hypothalamic hamartoma nord national organization for rare. Pdf hypothalamic hamartomas are heterotopias of the nervous tissue. Mr imaging and spectroscopy of a tuber cinereum hamartoma. Since then, 170 to 190 cases have been reported in the literature. Pten hamartoma tumor syndrome refers to a spectrum of conditions that are characterized by multiple hamartomas. Mr imaging and spectroscopy of a tuber cinereum hamartoma in. Pulmonary hamartoma is the third most frequent cause of solitary pulmonary nodules with an overall prevalence of up to 5. The endoscopic approach was carried out with a frameless stereotactic system to enhance feasibility and efficacy of the disconnecting procedure. Cowden syndrome associated with a high risk for benign and malignant cancerous tumors of the thyroid, breast, and uterus. It is a part of any tissue that either grows faster or without the usual organization of its neighbor cells.
To the authors knowledge, the cytology of these lesions has. The hamartoma was first described in 1971 as a lipofibroadenoma, fibroadenolipoma or adenolipoma, based on the predominant component of the breast tissue. Hamartoma is the most common benign neoplasm to occur in the lung. We retrospectively analysed case notes for all individuals with hypothalamic hamartoma referred to great ormond street hospital, london, between 2000 and 2016. Since 2002, department pediatric neurosurgery of xinhua hospital has maintained a multidisciplinary clinical program to evaluate and treat children with hh. The last case corresponded to a 6yearold male patient 4 that sought care for abnormal movements consisting of sucking, chewing and a fixed gaze, occasionally accompanied by deviations of the corner of the mouth, hypertonia, eye rolling and.
Treatment options for hypothalamic hamartomasno laughing. Treatment options for hypothalamic hamartomasno laughing matter. May 29, 20 the hamartoma was first described in 1971 as a lipofibroadenoma, fibroadenolipoma or adenolipoma, based on the predominant component of the breast tissue. Mhl may affect either lobe of the liver and presents as a cystic or solid mass, and on. The hamartoma can occur in almost any organ and is usually asymptomatic. Hypothalamic hamartomas hhs are benign tumours composed of ectopic neural and glial tissue.
Multiple hamartomas throughout the body occur in cowdens disease. Affected people may also have macrocephaly and characteristic skin abnormalities bannayan. The health consequences of abnormally early puberty include short stature and problems with ageappropriate psychosocial adjustment. Their growth is limited, so they are not actually tumors, even though they are often referred to. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Classically presents with normal serum alphafetoprotein afp level, although unusual cases presenting with elevated afp have been reported 2. Hepatic mesenchymal hamartoma radiology reference article. Hamartoma medical definition merriamwebster medical dictionary. Pten hamartoma tumor syndrome genetic and rare diseases. Hamartoma, benign tumourlike growth made up of normal mature cells in abnormal number or distribution. Hypothalamic hamartoma hh is a rare developmental malformation often characterized by gelastic seizures. Hepatic mesenchymal hamartoma can be rather large on presentation, and so abdominal enlargement and respiratory distress are thought to be the most common presenting features in children. Histologically, the lesions consist of a combination of cartilage, connective tissue, smooth muscle, fat, and respiratory.
On shortte proton mr spectra, the n acetylaspartate concentration in the. A hamartoma is a benign growth composed of an abnormal mixture of epithelial and mesenchymal elements. Because their growth is limited, hamartomas are not true tumours and some, such as hemangiomas that occur as birthmarks, may disappear with. Liver hamartoma is a rare type of benign tumor which usually occurs in the first few years of life. The most common example of an hamartoma is pulmonary hamartoma. Hypothalamic hamartoma radiology reference article. A benign tumor composed of an abnormal mixture of normal tissue elements that develop and grow at the same rate as adjacent tissue, resulting from faulty development in an organ. The presence of hypothalamic hamartoma was confirmed in all patients by using pituitary mri figure 1, figure 2. Tuber cinereum hamartoma is a benign tumor in which a disorganized collection of neurons. Mar, 2015 hamartomas are a major feature of tuberous sclerosis. This case illustrates typical appearances of a hypothalamic hamartoma.
Maresch initially described the tumor in 1903, but the term mhl was first used by edmondson in 1956. Of these, splenic hamartoma is a rare, benign tumor, which usually presents asymptomatically. If one considers choristoma hamartoma s cousin, the line between benign tumour e. This type of tumor, usually asymptomatic, when it is related to epilepsy, can cause intractable seizures and a particular type of laughter crises. Thus, it is extremely rare to encounter liver hamartoma in adults. However, cases of neoplastic evolution have occurred with these lesions. A hamartoma is a mostly benign, focal malformation that resembles a neoplasm in the tissue of its origin. To our knowledge, this is the first report of hypogonadotropic hypogonadism, or growth hormone deficiency, in a patient without nonpallisterhall syndrome who had hypothalamic hamartoma diagnosed on the basis of mr imaging and mr spectroscopy findings. A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local. In 1861, splenic hamartoma was first described by rokitansky. Sep 18, 2016 hypothalamic hamartoma hh is a rare developmental malformation often characterized by gelastic seizures. It grows at the same rate as the surrounding tissue. This report details the clinical presentation and surgical management of. It contains all the tissues you can expect to see in a lung, like fat, cartilage, connective tissue, etc.1347 445 577 142 143 43 1412 971 46 263 1571 881 1308 48 408 537 217 1529 657 476 219 1550 197 36 139 1134 1260 913 935 867 442 473 186 747 180 1002 980 659 13 1295 806 1176 588 1327 479 1290