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PubMed2003

Hamartomas and epilepsy: clinical and imaging characteristics.

PURPOSE: Cerebral hamartomas are lesions marked by a disorganized arrangement of mature neural elements and represent a rare cause of medically intractable focal epilepsy. We present the clinical presentation and imaging findings of this rare entity. METHODS: History and neurophysiological studies of 14 patients with pathologically confirmed hamartomas who had surgery for intractable focal epilepsy were reviewed. MRIs were available for review in 10 patients. RESULTS: The lesions were most commonly located in the temporal and frontal lobes. Seizure semiology was concordant with the anatomic location of the hamartoma in all patients. Nine of the thirteen patients (69%) with the hamartoma confined to one lobe had interictal spikes and sharp waves at the corresponding electrodes. The ictal pattern was confined to the same lobe of the hamartoma in five of nine patients with ictal recordings. Although imaging characteristics were variable, all patients had signal increase on T2-weighted images and 50% of them had mild mass effect. Neocortical involvement was present in the majority of patients (7/10), blurring of the gray/white matter interface was seen in seven patients. Five of those seven patients were found to have associated cortical dysplasia by pathology. CONCLUSION: Hamartomas represent a rare entity and may cause devastating epilepsy. Imaging characteristics are difficult to distinguish from those of some other developmental tumors. Hamartomas are frequently associated with microscopic cortical dysplasia (CD), thus underlining their malformative etiology.

Adolescent↗
PubMed1998

Gonadotrophin and prolactin secretory dynamics in girls with normal puberty, idiopathic precocious puberty and precocious puberty due to hypothalamic hamartoma.

OBJECTIVE: This study was designed to test the hypothesis that hypothalamic hamartoma causes precocious puberty through a different neuroendocrine mechanism than that of normal puberty or of idiopathic precocious puberty. DESIGN AND PATIENTS: We compared the pattern of gonadotrophin secretion among 4 girls with precocious puberty due to hypothalamic hamartoma, 27 girls with idiopathic precocious puberty, and 14 girls with normal puberty. All subjects were breast stage 3 or 4. Blood samples were obtained every 20 min for 4 h during the day (1.000 hours to 1400 h) and night (22.00 hours to 0200 h). MEASUREMENTS: LH, FSH, and prolactin were measured in each blood sample. Girls also underwent LHRH-stimulation with measurement of LH and FSH before and after stimulation. RESULTS: There were no significant differences in mean LH level, LH peak amplitude, or LH or FSH peak frequency during either the day or the night among the three diagnostic groups. However, the mean +/- SD LHRH-stimulated peak LH levels were greater in girls with hypothalamic hamartoma than in girls with normal puberty or with idiopathic precocious puberty (194 +/- 142 vs 85 +/- 60 or 66 +/- 54 IU/l, respectively, P < 0.05). The LHRH-stimulated peak FSH level in girls with hypothalamic hamartoma exceeded the level for the normal pubertal girls (31 +/- 19 vs 17 +/- 7 IU/l, P < 0.05), but not the level for the girls with idiopathic precocious puberty (25 + 12 IU/l). The peak LH to peak FSH ratio in the girls with hypothalamic hamartoma exceeded the ratio for the girls with idiopathic precocious puberty (7.3 +/- 3.9 vs 2.6 +/- 3.0 IU/l, P < 0.05), but not the ratio for the normal pubertal girls (5.0 + 2.9). There were no significant differences in mean prolactin level, peak amplitude or frequency, or in the ratio of mean night to mean day prolactin, among the 3 diagnostic groups. CONCLUSIONS: We conclude that spontaneous gonadotrophin and prolactin secretion are similar among girls with hypothalamic hamartoma, idiopathic precocious puberty, or normal puberty. However, the increased LHRH-stimulated peak LH in the girls with hypothalamic hamartoma suggests subtle differences in neuroendocrine regulation that may underlie their more rapid pubertal maturation.

Adolescent↗
PubMed2002

Ductal carcinoma in situ arising in mammary hamartoma.

Hamartoma of the breast is an uncommon lesion. Although it can possess characteristic radiological features, the pathological appearance is not distinctive. Hamartoma is generally considered benign, but four cases have been reported with ductal and lobular carcinoma arising in hamartomas. This report describes further cases of hamartoma from which ductal carcinoma in situ arose, with one showing early invasion. In both cases, the tumours were within the hamartomas and were adequately excised during lumpectomies of the hamartomas, and the patients were well afterwards. This report emphasises the importance of adequate sampling of mammary hamartoma.

Adult↗
PubMed2003

Generalized epilepsy in hypothalamic hamartoma: evolution and postoperative resolution.

OBJECTIVE: To better understand the epileptogenesis of symptomatic generalized epilepsy in patients with hypothalamic hamartoma and intractable epilepsy, many of whom experience remission of generalized seizures and slow spike-wave discharges following surgery. METHODS: The authors documented the evolution of symptomatic generalized epilepsy in 12 of 20 children who underwent transcallosal microsurgical hypothalamic hamartoma resection. In seven patients they recorded intraoperative EEG from the hamartoma and simultaneously from the scalp and frontal cortex before, during, and after resection. RESULTS: Gelastic seizures began on average at 6 months of age (range birth to 3 years); tonic seizures began at 6 years (range 2 months to 9 years). Normal EEG were reported in early childhood; thereafter, abnormalities were progressive. Interictal spike-wave was recorded intraoperatively over the scalp and cortex in six patients, but not from the hypothalamic hamartoma. Hamartoma resection had no immediate effect on cortical spike-wave, but waking spike-wave was absent in seven patients on subsequent postoperative EEG. Tonic seizures ceased in 11 of 12 patients, but 6 of these had postoperative generalized seizures that resolved over 1 to 6 months. CONCLUSION: Gelastic seizures in hypothalamic hamartoma arise from the hamartoma itself; the interictal spike-wave does not. The evolution of EEG abnormalities, the development of generalized seizures years after onset of gelastic seizures, and the postoperative running down of interictal spike-wave and generalized seizures in these patients may reflect secondary epileptogenesis.

Child↗
PubMed1985

Solitary renal hamartoma not associated with tuberous sclerosis: roles of CT and angiography.

CT and angiography of five solitary renal hamartomas not associated with tuberous sclerosis are reviewed. CT revealed fat in four hamartomas and was the more reliable in the differentiation from renal cancer. Bleeding from the tumour was detected in two cases and the extent of each haematoma was precisely determined by CT. Angiography showed specific findings in only one tumour. In a pararenal hamartoma, angiography was of value in clarifying the renal origin of the tumour. Though angiography may be of help when CT is inconclusive, we think it should not be relied upon as a major diagnostic tool and we utilise it mainly for preoperative mapping and embolisation. In one case CT did not detect fat and preoperative diagnosis was impossible. In one case with haematoma, detection of fat was difficult. We believe potential hamartomas with no detectable fat should be treated as malignancy until proved otherwise. There seems to be discrepancy between the vascularity of the hamartoma and the degree of contrast enhancement (CE) with a bolus injection method; hamartomas seem to show weaker CE than that expected for renal cancer of equal vascularity, a fact which may differentiate solitary hamartoma from cancer.

Adult↗
PubMed2001

Cerebral vascular hamartomas in five dogs.

Vascular hamartomas are considered developmental lesions rather than true neoplasms. Reports of such anomalies in the canine brain are scarce, and their classification is confusing. This case series of vascular hamartomas from the brains of five dogs was characterized using histochemistry and immunohistochemistry, in addition to gross and microscopic findings. All five hamartomas were located in the telencephalon, three in the pyriform lobe, without any predilection for the left or right side. Each hamartoma consisted of a proliferation of thin-walled vessels which varied in caliber. These vessels were elastin-negative, with varying amounts of collagen and no muscular component. In four of the five hamartomas, lining cells were actin- and factor VIII-positive. All five hamartomas contained glial fibrillary acid protein (GFAP)-positive parenchyma at moderate to high frequency, and four contained neurofilament-positive axons between component vessels. This report shows that vascular hamartomas in the canine brain are structural malformations for which immunohistochemistry is useful for accurate classification.

Animals↗
PubMed2003

Disconnecting surgical treatment of hypothalamic hamartoma in children and adults with refractory epilepsy and proposal of a new classification.

A series of 17 patients aged from 9 months to 32 years with refractory epilepsy due to hypothalamic hamartoma were treated by total removal (one case) and disconnection (16 cases) between 1997 and 2002. The mean age at seizure onset was 16 months. Sixteen patients had gelastic seizures, 14 had partial seizures and three had generalized tonic-clonic seizures. The mean seizure frequency was 21 per day. Four patients had borderline intelligence quotient and the others were mentally retarded. Five patients presented with precocious puberty, one with acromegaly, and four suffered from obesity. Brain magnetic resonance imaging, performed at least twice in each patient, showed the hamartoma as a stable homogeneous interpeduncular mass implanted either on the mammilary tubercle or on the wall of the third ventricle with variable extension to the bottom. Ictal single photon emission computed tomography, performed in four patients, showed hyperperfusion within the hamartoma in two patients. Twenty-five operations were performed in the 17 patients. The first patient underwent total removal of the hamartoma, whereas the following 16 patients underwent disconnection through open surgery (14 procedures) and/or endoscopy (9 procedures). Eight patients became seizure-free, one patient had only brief gelastic seizures, and eight patients were dramatically improved with a mean follow up of 18.6 months (8 days to 43 months). Surgery was safe in all but two patients: the first patient had transient hemiplegia and the third cranial nerve paresis, and the other developed hemiplegia due to ischemia of the middle cerebral artery territory. The quality of life, and behavior and school performance were greatly improved in most patients. Our series illustrates the feasibility and relative safety of disconnection surgery for hypothalamic hamartomas with seizure relief in 53% of patients and dramatic improvement in the others. Surgical observations led us to propose a new anatomical classification according to the anatomical relationship between the hamartoma and the adjacent hypothalamus and third ventricle. Endoscopic disconnection seems to be a very safe way to treat hamartomas in intraventricular locations.

Adult↗
PubMedDate not supplied

[Hypothalamic hamartomas: control of seizures after partial removal in one case].

OBJECTIVE: To describe a patient with intractable seizures and hypothalamic hamartoma that was only partially resected with complete control of seizures and improvement in behavior after surgery. CLINICAL CASE: He had gelastic seizures from the first months of life associated with hypothalamic hamartoma. We used magnetic resonance spectroscopy to localize and measure the lesion in the temporal lobes and in the hamartoma. The relative intensity of N-acetylaspartate to creatine (NAA/Cr) and NAA/choline (Ch) were not significantly different from normal control subjects for either temporal lobes, whereas the ratio NAA/Ch was decreased and the ratio NAA/Cr was highly increased in the hamartoma. Despite only partial resection of the hamartoma, seizures have been completely controlled and the patient has recovered normal social and work activity and is ending a normal life, that follow three years after surgery. CONCLUSIONS: These findings suggest that gelastic seizures associated with hypothalamic hamartoma are generated within the hamartoma itself, and that it is possible to control epilepsy and to improve intellectual and social problems with only partial resection of the mass.

Adult↗
PubMed1995

Proton MR spectroscopy in patients with neurofibromatosis type 1: evaluation of hamartomas and clinical correlation.

PURPOSE: To use proton MR spectroscopy in patients with neurofibromatosis type 1 to determine: (a) the spectroscopic characteristics of hamartomas and compare them with that of gliomas; (b) whether differences exist between patients with and without learning disabilities; and (c) spectroscopic patterns in normal-appearing brain (by MR imaging) in patients with and without focal lesions. METHODS: Seventeen proton MR spectroscopy volumes were obtained in 10 patients with neurofibromatosis type 1 (including hamartomas, N = 7; normal-appearing brain, N = 10). Seven patients had learning disorders, and 3 were mentally normal. Ten healthy volunteers and 10 patients with pathologically proved gliomas (all grades) were also examined. N-Acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios were calculated for all samples. RESULTS: (a) Hamartomas showed higher N-acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios than gliomas. Hamartomas showed N-acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios similar to those of healthy volunteers. (b) No significant differences in N-acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios were found in patients who had neurofibromatosis type 1 with and without learning disabilities. (c) N-acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios were similar for patients who had neurofibromatosis type 1 with and without focal hamartomas and in healthy volunteers. CONCLUSIONS: (a) Hamartomas have a proton MR spectroscopy pattern different from that of glioma and similar to that of normal brain. (b) As performed in this study, proton MR spectroscopy did not show significant differences in patients who had neurofibromatosis type 1 with and without learning disabilities. (c) Patients who have neurofibromatosis type 1 with and without hamartomas seem to have normal intervening brain by proton MR spectroscopy when compared with healthy volunteers.

Adolescent↗
PubMed1993

[Diagnosis and therapy of endobronchial and tracheal hamartomas].

Endobronchial hamartomas are a tenth as frequent as the usually asymptomatic intrapulmonary hamartomas. We report on 7 patients. 2 men and 3 women had an endobronchial hamartoma. In one patient multiple endobronchial hamartomas were found in the left upper lobe. In a 56-year-old patient with an 8-year history of shortness of breath, cough and several episodes of pneumonia and acute onset of respiratory failure, a tracheal hamartoma was diagnosed. Frequently, endobronchial hamartomas can be resected without loss of lung tissue. Laser resection is often possible and may be the treatment of choice in elderly or inoperable patients. Because of lower risk, laser resection is frequently preferred to conventional operative resection in patients with tracheal hamartomas.

Adult↗
PubMed1997

Mammary hamartoma: is clinical diagnosis possible?

Mammary hamartoma is a rare benign lesion of the female breast. Diagnosis is usually made by either radiological and or histological means. Clinical diagnosis has been reported to be difficult. Between December 1994 and June 1995, three patients were found to have mammary hamartomas. All of them presented with breast lump greater than 6 cm in size. All hamartomas were well-delineated, soft and lobulated. Mammogram in these patients showed typical radiological 'breast in the breast' appearance of mammary hamartoma. A correct clinical diagnosis of mammary hamartoma was made in the third patient after the experience of management gained through the first two patients with mammary hamartoma. We believe that clinical diagnosis of mammary hamartoma is possible with both awareness of and experience of examining patients with this rare disease.

Adult↗
PubMed1996

Loss of heterozygosity in tuberous sclerosis hamartomas.

We have previously described in tuberous sclerosis (TSC) hamartomas the phenomenon of loss of heterozygosity (LOH) for DNA markers in the region of both the TSC2 gene on chromosome 16p13.3 and the TSC1 gene on 9q34. We now describe the spectrum of LOH in 51 TSC hamartomas from 34 cases of TSC. DNA was extracted from leucocytes or normal paraffin embedded tissue, and from frozen paraffin embedded hamartoma tissue from the same patient. The samples were analysed for 11 markers spanning the TSC1 locus and nine markers spanning the TSC2 locus. Twenty-one of 51 hamartomas showed LOH (41%). There was significantly more LOH on 16p13.3, with 16 hamartomas showing LOH around TSC2, and five in the vicinity of TSC1. No hamartoma showed LOH for markers around both loci. All the areas of LOH on chromosome 9 were large, but the smallest region of overlap lay between the markers D9S149 and D9S114, providing independent evidence for the localisation of the TSC1 gene. These data show that LOH is a common finding in a wide range of hamartomas, affecting the same TSC locus in different lesions from the same patient but not affecting both loci. These data support the hypothesis that both the TSC genes act as tumour suppressors and that the manifestations of TSC in patients with germline TSC mutations rise from "second hit" somatic mutations inactivating the remaining normal copy of the TSC gene.

Angiomyolipoma↗
PubMed1993

Mesenchymal hamartoma of liver. A regional ischemic lesion of a sequestered lobe.

OBJECTIVE: To evaluate histologic and gross features of mesenchymal hamartoma of liver and similar lesions in relation to determining likely pathogenesis. DESIGN: Case series of patients presenting to a tertiary care hospital over 16 years. PATIENTS: Three children with mesenchymal hamartoma ranging from newborn to 11 months of age and one 12-year-old girl with torsion of an accessory lobe of liver. MAIN OUTCOME MEASURES: Similarity of gross vascular and segmented anomalies as well as apparent consequent histologic features of mesenchymal hamartoma to those of torsion of an accessory lobe of liver indicate that they are pathogenetically related. RESULTS: Dissecting microscopic examination revealed a single vascular supply in one case and remote thrombi in two cases of mesenchymal hamartoma evaluated. The histologic features of mesenchymal hamartoma (hypocellular central zone and hypercellular periphery) were duplicated in the lobe of liver with torsion. CONCLUSIONS: Mesenchymal hamartoma represents a lesion with an anomalous solitary vascular supply that may evolve into its specific pattern with stromal cysts as a result of early ischemic changes.

Adolescent↗
PubMed1999

Multiple chondromatous hamartomas of the lung: a case report and review of the literature with special reference to Carney syndrome.

BACKGROUND: Multiple chondromatous hamartomas of the lung, which are very rare, are a feature of Carney syndrome. The relation between the two entities is not clear. METHODS: A patient with multiple chondromatous hamartomas of the lung is described in this article. The literature was reviewed with special reference to the relation between multiple chondromatous hamartomas of the lung and Carney syndrome as well as the triad of gastric epithelioid leiomyosarcoma, functioning extra-adrenal paraganglioma, and pulmonary chondroma. RESULTS: A total of 15 cases of multiple chondromatous hamartomas of the lung have been published worldwide. Two cases exhibited two other features of Carney syndrome, namely, gastric leiomyogenic neoplasms and extra-adrenal paragangliomas, and three other cases demonstrated only gastric leiomyomatous neoplasms. These five patients were all young females. CONCLUSIONS: Some patients with multiple chondromatous hamartomas of the lung have a history of Carney syndrome. Patients with multiple chondromatous hamartomas require further examination of other sites, particularly the stomach and nervous system.

Chondromatosis↗
PubMed1998

Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation.

Cowden disease (CD) is a rare, autosomal dominant inherited cancer syndrome characterized by multiple benign and malignant lesions in a wide spectrum of tissues. While individuals with CD have an increased risk of breast and thyroid neoplasms, the primary features of CD are hamartomas. The gene for CD has been mapped by linkage analysis to a 6 cM region on the long arm of chromosome 10 at 10q22-23. Loss of heterozygosity (LOH) studies of sporadic follicular thyroid adenomas and carcinomas, both component tumors of CD, have suggested that the putative susceptibility gene for CD is a tumor suppressor gene. Somatic missense and nonsense mutations have recently been identified in breast, prostate, and brain tumor cell lines in a gene encoding a dual specificity phosphatase, PTEN/MMACI, mapped at 10q23.3. Furthermore, germline PTEN/MMACI mutations are associated with CD. In the present study, 20 hamartomas from 11 individuals belonging to ten unrelated families with CD have been examined for LOH of markers flanking and within PTEN/MMACI. Eight of these ten families have germline PTEN/MMACI mutations. LOH involving microsatellite markers within the CD interval, and including PTEN/MMACI, was identified in two fibroadenomas of the breast, a thyroid adenoma, and a pulmonary hamartoma belonging to 3 to 11 (27%) of these patients. The wild-type allele was lost in these hamartomas. Semi-quantitative PCR performed on RNA from hamartomas from three different tissues from a CD patient suggested substantial reduction of PTEN/MMACI RNA levels in all of these tissues. The LOH identified in samples from individuals with CD and the suggestion of allelic loss and reduced transcription in hamartomas from a CD patient provide evidence that PTEN/MMACI functions as a tumor suppressor in CD.

Chromosomes, Human, Pair 10↗
PubMed1997

Intrinsic epileptogenesis of hypothalamic hamartomas in gelastic epilepsy.

Hypothalamic hamartomas and gelastic seizures are often associated with cognitive deterioration, behavioral problems, and poor response to anticonvulsant treatment or cortical resections. The origin and pathophysiology of the epileptic attacks are obscure. We investigated 3 patients with this syndrome and frequent gelastic seizures. Ictal single-photon emission computed tomography performed during typical gelastic seizures demonstrated hyperperfusion in the hamartomas, hypothalamic region, and thalamus without cortical or cerebellar hyperperfusion. Electroencephalographic recordings with depth electrodes implanted in the hamartoma demonstrated focal seizure origin from the hamartoma in 1 patient. Electrical stimulation studies reproduced the typical gelastic events. Stereotactic radiofrequency lesioning of the hamartoma resulted in seizure remission without complications 20 months after surgery. The functional imaging findings, electrophysiological data, and results of radiofrequency surgery indicate that epileptic seizures in this syndrome originate and propagate from the hypothalamic hamartoma and adjacent structures.

Adult↗
PubMed2006

Mammary hamartoma.

INTRODUCTION: Mammary hamartomas are rare benign breast lumps. They are usually painless, wellcircumscribed, mobile and with no adherence to skin or muscle, composed of varying amounts of fat, glandular and fibrous tissue. Mammary hamartoma has been classically considered as an underdiagnosed pathology, but with the increasing use of diagnostic procedures in breast tumours, the number of hamartomas has increased in the last years. Because there is no distinct pathological feature, a correlation with the clinical findings and image techniques is necessary in order to achieve a correct diagnosis of the pathology. MATERIALS AND METHODS: The clinicopathological features of 8 mammary hamartomas are reported here. RESULTS: The patients are ranged in age from 34 to 67 years. The initial manifestation was in all cases a well-circumscribed, soft, palpable breast lump. Mammography was performed in all patients. Other diagnostic procedures used in the diagnosis were Ultrasound, Fine Needle Aspiration Cytology and Needle Core Biopsy. Treatment was tumorectomy. We describe a case of recurrence after excision of the lump in a more aggressive histological form and one patient who presented the coexistence of a mammary hamartoma and an invasive ductal carcinoma. CONCLUSION: Mammary hamartoma is an uncommon breast tumour. It is necessary the correlation between pathology and clinical and radiological findings. We express our management plan for these lesions.

Adult↗
PubMed2005

Pontine activation during focal status epilepticus secondary to hamartoma of the floor of the fourth ventricle.

Epileptic seizures associated with hamartoma of the floor of the fourth ventricle (HFFV) are generally resistant to antiepileptic medication, may evolve into status epilepticus, and can respond favorably to surgical therapy. HFFV are rare, and during the neonatal or infantile period may be associated with repetitive and stereotyped attacks of hemifacial spasm, eye blinking, facial movements, head deviation and dysautonomic manifestations. Similarly, to gelastic seizures provoked by hypothalamic hamartomas, it has been suggested that these spells arise from within the HFFV, thus constituting a type of non-cortical seizure. We report an infant female patient that developed continuous left hemifacial attacks since she was 2-month-old, and that underwent presurgical investigation when she was 18-month-old. MRI disclosed a left sided HFFV, Video-EEG showed non-localizing and non-lateralizing findings, and SPECT aligned with MRI showed marked hyperperfusion within the hamartoma, spreading to ipsilateral cerebellar parenchyma and brainstem nuclei. Patient underwent lesionectomy and became seizure-free. We found two evidences on literature supporting the hypothesis of non-cortical seizures related to HFFV. The first, intra-cerebellar recordings surrounding hamartoma showed electrical activity related to seizures. The second, subtracted SPECT co-registered MRI showed hyperemia within hamartoma. The present report provides the third additional evidence. We found the involvement not only of the hamartoma, and pars of cerebellar hemisphere, but also an intense hyperemia involving brainstem nuclei during seizures. We believe that all these findings suggest a short subcortical network responsible for generating seizures in HFFV patients.

Epilepsies, Partial↗