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PubMed2003

Hypothalamic hamartoma with refractory epilepsy: surgical procedures and results in 18 patients.

AIM: To study the surgical procedures and results on seizures, in 18 patients with refractory epilepsy due to hypothalamic hamartoma. PATIENTS AND METHODS: Eighteen patients aged from 9 months to 32 years underwent surgery between 1997 and 2002. The mean age at seizure onset was 15.5 months. Seventeen patients had gelastic seizures, 14 had partial seizures, two had infantile spasms, 10 had tonic or atonic seizures and three had generalized seizures. The mean seizure frequency was 21 per day. Four patients had borderline intellectual disability and the others were mentally retarded. Five patients had precocious puberty, one had acromegaly and four suffered from obesity. Brain MRI, performed at least twice in each patient showed the hamartoma as a stable, homogeneous interpeduncular mass implanted either on the mammillary tubercle or on the wall of the third ventricle, with variable extension to the bottom. Ictal SPECT, performed in four patients, showed hyperperfusion within the hamartoma in two. SURGICAL PROCEDURE: Twenty-six operations were performed in 18 patients. The first patient underwent a total removal of the hamartoma, whereas the following patients underwent a disconnection, either through open surgery (14 patients) or endoscopy (10 patients). RESULTS: Regarding the seizure outcome with a mean follow up of three years four months (one year to 4.5 years), nine patients are seizure-free, one patient has only brief gelastic seizures and eight are dramatically improved. Surgery was uncomplicated in all but two patients: one had transitory hemiplegia and paresis of the third cranial nerve, the other presented with hemiplegia due to ischemia of the middle cerebral artery territory. The quality of life, behavior and school performance were greatly improved in most of the patients. CONCLUSION: Our series illustrates the feasibility and relative safety of disconnecting surgery of hypothalamic hamartomas, with seizure relief in 50% and a dramatic improvement in the others. Endoscopic disconnection seems to be a very safe way to treat the intra-ventricular part of hamartomas.

Adolescent↗
PubMed2006

Hypothalamic hamartomas: Correlation of MR imaging and spectroscopic findings with tumor glial content.

BACKGROUND AND PURPOSE: There is variability in the literature concerning the appearance and histology of hypothalamic hamartomas. This study correlates the MR imaging and proton MR spectroscopic properties of hypothalamic hamartomas with histopathologic findings. METHODS: Studies were performed with 3T and 1.5T scanners. Single voxel hamartoma spectra were acquired by using short-echo-time point-resolved spectroscopy sequences (PRESS). 2D PRESS chemical shift imaging (CSI) spectroscopic sequences were also obtained for comparison of tumor-derived spectra with normal gray matter of the amygdala. Sequences were used to compare choline (Cho), N-acetylaspartate (NAA), and myoinositol (mI) resonances by using a creatine (Cr) reference. Spectral ratios and T2 signal intensity ratios of the hamartomas were then compared with histopathologic findings. RESULTS: Data from single voxel spectroscopic sequences demonstrated a statistically significant decrease in NAA/Cr and an increase in mI/Cr ratios in tumor tissue when compared with values in normal gray matter of the amygdala. In addition, Cho/Cr ratios were also increased when compared with those in normal gray matter controls. Among the 14 hamartomas sampled, a spectrum of increased mI/Cr ratios was seen. Those tumors with markedly elevated mI/Cr demonstrated an increased glial component when compared with the remaining tumors. Increased glial component was also found to have a positive correlation with hyperintensity of lesions on T2-weighted images. CONCLUSION: We have identified a correlation between the glial/neuronal fraction as determined by histopathology and MR spectral and T2 hyperintensity variations among hypothalamic hamartomas.

Adolescent↗
PubMed1993

[Smooth muscle hamartoma: anatomoclinical characteristics and nosological limits].

Smooth muscle hamartoma is an uncommon cutaneous dysembryoplasia usually diagnosed in infancy. Among the 61 cases published since 1923, 56 were congenital and 3 appeared in young adults. We report a case in which the lesions started at the age of 15 years as a papular plaque in the right mammary region of a young woman. A review of the literature showed that the usual clinical presentation is a frequently pigmented plaque made of often follicular papules and measuring 1 to 10 centimeters on average. Excessive hairiness is the most frequent sign, being observed in more than two-thirds of the cases, and Darier's pseudo-sign is present in about 53 p. 100 of the patients. The disease is electively located on the lumbar region, the back and the root of the limbs. In 3 cases the lesions were generalized and the patients looked like fatty "Michelin-Tire Babies". The course of the disease is always favourable, and associated pathologies remain exceptional: urticaria pigmentosa and psychomotor retardation have been reported in two cases of the generalized form. Histology is characterized by the presence of numerous smooth muscle fibres disseminated in the dermis and diversely oriented, sometimes in contact with hair follicles which retain their normal morphology. The differential clinical diagnosis is with naevocytic naevus, café-au-lait spots, mastocytosis and connective tissue hamartoma. Belatedly revealed forms of the disease must be distinguished from Becker's hamartoma, but it must be known that in certain cases the classification is so difficult that some authors have suggested that smooth muscle hamartoma and Becker's hamartoma are only two poles of a single spectrum of dysembryoplastic lesions involving to varying degrees the epidermic and hair structures. Finally, the distinction between the localized forms of late onset smooth muscle hamartoma and multiple leiomyomas "en plaques" remains difficult both anatomico-clinically and nosologically.

Adolescent↗
PubMed1996

Cystic mesenchymal hamartoma of the liver--a rare condition.

Cystic Mesenchymal Hamartoma of the liver is a rare benign tumour of infancy. Congenital cysts of the liver are of two main types: mesenchymal hamartoma and non parasitic cysts. The latter are encountered frequently while liver hamartomas are rare. The first reported case of mesenchymal hamartoma was that of Maresch in 1903. In 1956 Edmondson reviewed the literature and proposed the term "Mesenchymal Hamartoma" as a new clinical entity. In this paper we are discussing a rare case of cystic mesenchymal hamartoma of the liver, its clinical presentation, pathological characteristics, options of management and reviewing the relevant literature.

Cysts↗
PubMed1998

The role of mammography in the diagnostic approach of breast hamartomas.

PURPOSE: Hamartomas are rare benign breast tumors which surfaced with the entrance of mammography in the diagnostic algorithm of breast lesions. In the present study the mammography findings of breast hamartomas were analyzed in relation to the histologic confirmation of the diagnosis. PATIENTS AND METHODS: During the seven-year period between January 1990 and January 1997 we studied 45 patients, aged from 32 to 66 years, with a clinical and/or mammographic finding of a breast lump, highly suspicious of hamartoma. In 29 (64.4%) the tumor was found in the left breast and in the remaining 16 (35.6%) in the right breast. RESULTS: The preoperative mammography of 41 patients revealed a nodular opaque mass of a nonhomogeneous composition and only four had the typical hamartoma picture. The tumor diameter ranged between 0.7-6.5 cm. All tumors were excised and the histological reports confirmed the diagnosis of hamartoma. CONCLUSION: Mammography helps in the diagnosis of hamartomas. Nevertheless, the final diagnosis must be based on the histological analysis of the tumor.

Adult↗
PubMedDate not supplied

Vitreous hemorrhage secondary to juxtapapillary vascular hamartoma of the retina.

The authors report an unusual case with vitreous hemorrhage due to a vascular hamartoma of the optic nerve-head and treated by pars plana vitrectomy. Systemic abnormalities included a seizure disorder, periungual fibroma, and intracranial calcifications suggesting systemic tuberous sclerosis. However, the ocular lesion resembled a juxtapapillary pigment epithelial and retinal hamartoma or a capillary hemangioma rather than an astrocytic hamartoma. Vitreous hemorrhage has been reported previously in eyes with capillary hemangiomas and astrocytic hamartomas, but not in eyes with juxtapapillary pigment epithelial and retinal hamartomas. In young patients with vitreous hemorrhage of unknown cause, juxtapapillary hamartomas should be considered in the differential diagnosis.

Adolescent↗
PubMed2002

Gelastic seizure with hypothalamic hamartoma: proton magnetic resonance spectrometry and ictal electroencephalographic findings in a 4-year-old girl.

Gelastic seizure is a rare symptom often associated with hypothalamic hamartoma. We present here a 4-year-old girl with gelastic epilepsy caused by hypothalamic hamartoma and report the magnetic resonance spectrometry and electroencephalographic (EEG) findings. At the age of 2 1/2 years, she developed brief, repetitive laughing attacks or mixed attacks with laughing and crying, which were refractory to carbamazepine. An interictal EEG showed intermittent slow waves in the left frontocentral region and sporadic positive sharp waves in the left centroparietal area. Ictal EEG demonstrated dysrhythmic theta activity in the left central area 3 seconds after the onset of laughing. Brain magnetic resonance imaging demonstrated a large sessile mass, isointense to gray matter, in the region of the hypothalamus, suggesting hypothalamic hamartoma. Proton magnetic resonance spectrometry of the hypothalamic hamartoma revealed a significant reduction of the N-acetylaspartate/serum creatinine ratio. The altered chemical shift imaging with magnetic resonance spectrometry in our patient suggests a biochemical abnormality in the tissue of the hypothalamic hamartoma. Moreover, this abnormal function of the hamartoma tissue might be closely related to epileptogenesis because the time difference between the ictal laughter and the subsequent EEG changes in the ictal EEG does not support the idea that the activated cortex is the epileptogenic focus.

Aspartic Acid↗
PubMed1995

Retinal vascular hamartoma in von Hippel-Lindau disease.

OBJECTIVE: To diagnose von Hippel-Lindau disease at an early stage in the presence of atypical retinal lesions. DESIGN: Case series. METHODS: In an 11-year interdisciplinary clinical follow-up study of von Hippel-Lindau disease, 52 patients with retinal angiomas were investigated. RESULTS: Besides retinal angiomas, in five patients with von Hippel-Lindau disease or in the close relatives of such patients, unusual retinal vascular hamartomas other than retinal angiomas were detected. Retinal hamartomas are characterized by small, moss fiber-like, relatively flat vascular lesions with smooth and occasionally irregular margins and without enlarged afferent and efferent vessels. They are located within the superficial retina, usually adjacent to a retinal vein. In addition to typical peripheral retinal angiomas, a 28-year-old man with a pheochromocytoma had a treelike hamartoma. In another family, a brother and sister both had circumscribed red hamartomas with irregular outlines close to the retinal vessels. On fluorescein angiography, the early arterial filling of the hamartomas in two of these patients was striking. CONCLUSION: It is prudent to be aware of these unusual vascular retinal changes in von Hippel-Lindau disease. They may occur in isolation without additional retinal angiomas (as in four of our patients) but may suggest the presence of von Hippel-Lindau disease.

Adolescent↗
PubMed2003

Breast hamartoma: fine-needle aspiration cytologic finding.

BACKGROUND: Breast hamartoma is an unusual, well-circumscribed, tumor-like mass entering into the differential diagnosis of benign breast disease. To the authors' knowledge, the cytology of these lesions has not been well described. Although fine-needle aspiration is a well established procedure for the detection of breast carcinoma, its utility in classifying benign breast disease is less clear. METHODS: Fine-needle aspirates from eight patients with histologically proven hamartomas were reviewed. None of the cases had a preoperative fine-needle aspiration diagnosis of hamartoma. Cytologic characteristics were retrospectively evaluated in a semiquantitative manner and compared with the histologic findings. RESULTS: The aspirates were moderately cellular and contained sheets of both bland ductal cells and lobular units. Adipose tissue was present in varying amounts. Bipolar stromal nuclei were readily apparent, whereas intact stromal fragments were less prominent. Cytologic atypia was uniformly absent. CONCLUSIONS: The cytology of breast hamartomas shows considerable overlap with other benign breast disease and is unlikely to be interpreted as malignant. The findings of intact lobular units and a relative paucity of stroma in an aspirate from a well circumscribed breast lesion may suggest the diagnosis of hamartoma.

Adolescent↗
PubMed2001

Coexistence of lung cancer and hamartoma.

We present a rare case of a synchronous primary lung cancer adjacent to a hamartoma. A 71-year-old woman was admitted with congestive heart failure due to acute myocardial infarction. A chest radiogram on admission showed pulmonary edema with a tumor shadow in the right upper lung field. Because histological diagnosis was not obtained preoperatively, a wedge resection of the lung was conducted using video-assisted thoracoscopic surgery. The histopathological examination confirmed the coexistence of an adenocarcinoma with a chondromatous hamartoma. Right upper lobectomy was performed followed by excision of the mediastinal lymph nodes. Although hamartoma is generally considered to be a benign neoplasm, there have been several reports of increased risk to lung cancer in patients with a chondromatous hamartoma. Therefore, we recommend that patients with a hamartoma should be submitted to a complete evaluation and to regular follow-up, considering the risk to associated synchronous malignancy.

Adenocarcinoma↗
PubMed1999

Fibrolipomatous hamartoma: pathognomonic on MR imaging.

PURPOSE: To assess the MR imaging characteristics, presenting symptoms, age and nerve distribution of fibrolipomatous hamartoma. DESIGN: A computer search was performed of the term fibrolipomatous hamartoma through the musculoskeletal section MR imaging results at our institution from June 7, 1996 to January 21, 1998 followed by a search of the terms lipomatous hamartoma, median nerve, surrounding fat, increased fatty signal, coaxial, and neuroma. MR images and medical files were retrospectively reviewed by two experienced musculoskeletal radiologists for imaging characteristics, nerve and age distribution as well as for history of trauma. In addition three consultation cases from outside institutions were added for determination of image characteristics. RESULTS: Ten fibrolipomatous hamartomas were identified: eight in the median nerve, one in the ulnar nerve and one in the sciatic nerve. Mean age was 32.3 years (range 4-75 years, SD 21 years). Imaging characteristics were serpiginous low-intensity structures representing thickened nerve fascicles, surrounded by evenly distributed fat, high signal intensity on T1-weighted sequences and low signal intensity on T2-weighted sequences. The amount of fat varied; however, distribution in eight cases (80%) was predominantly between nerve fibers rather than surrounding them peripherally. All had a coaxial-cable-like appearance on axial planes and a spaghetti-like appearance on coronal planes that was not seen in any other type of median nerve abnormality imaged during the study period. CONCLUSION: The MR imaging characteristics of fibrolipomatous hamartoma are pathognomonic, obviating the need for biopsy for diagnosis.

Adult↗
PubMed2004

Irregular connexin43 expressed in a rare cardiac hamartoma containing adipose tissue in the crista terminalis.

Cardiac hamartomas are very rare and are demarcated masses of enlarged, hypertrophied, mature myocytes and collagen tissue. Cardiac hamartomas are generally circumscribed in the right ventricle or atrium, but not reported in the crista terminalis (CRT). The CRT is crucial in electrophysiology, is related to arrhythmogenesis, and is targeted by radiofrequency catheter procedures. Previous works only described the benign natures of prominent CRT using non-invasive methods. This study describes an unusual cardiac hamartoma originating from the CRT and extending toward the tricuspid valve. Microscopically, this hamartoma comprised dense collagen and adipose tissue, mixed with hypertrophy, but with disarrayed cardiomyocytes. An irregular gap junction, connexin43, was demonstrated in this cardiac hamartoma.

Adipose Tissue↗
PubMed2004

Giant hamartoma of the retro- and parapharyngeal region. Case report and review of literature.

Hamartoma designates a tumor-like, non-neoplastic malformation, or in-born error of tissue development, often with an abnormal mixture of tissue indigenous to the region. In the head and neck, epithelial and mesenchymal hamartomas are uncommon. We present the case of a 9-year-old boy with a huge hamartoma of 800ml (cm(3)) volume of the right retro- and parapharyngeal region. It had fully occluded the nasopharynx, indented the base of the tongue and left a minimal airway passage transorally. Food uptake was severely hampered by the lesion. The patient underwent a combined transoral and external approach for complete resection of the tumor. This is the first reported case of a retro- and parapharyngeal hamartoma with metaplastic bone formation in the literature and further more, the largest hamartoma in head and neck ever reported in this age group.

Biopsy, Fine-Needle↗
PubMed2003

Presumed combined hamartoma of the retina and retinal pigment epithelium with preretinal neovascularization.

PURPOSE: To describe a case of presumed combined hamartoma of the retina and retinal pigment epithelium associated with preretinal neovascularization. DESIGN: Observational case report. METHODS: We report clinical and angiographic findings of a 26-year-old woman. RESULTS: The patient presented with mild vitreous hemorrhage and slowly decreasing vision in the right eye. A combined hamartoma of the midperipheral retina and retinal pigment epithelium with an epiretinal membrane causing traction to the macula was found. Fluorescein angiography showed areas of capillary nonperfusion and a large preretinal neovascularization peripheral to the hamartoma. CONCLUSIONS: A combined hamartoma may be associated with retinal capillary nonperfusion and preretinal neovascularization, suggesting that significant retinal ischemia can occur with a combined hamartoma.

Adult↗
PubMed2003

Resection of endobronchial hamartoma by bronchoplasty and transbronchial endoscopic surgery.

Endobronchial hamartoma is a rare, benign tumor usually associated with pneumonitis and atelectasis caused by obstruction. Lobectomy is sometimes performed even if the tumor is benign. Transbronchial endoscopic surgery is usually performed for patients with a small endobronchial hamartoma. We report our treatment of a large hamartoma completely obstructing the patient's left main bronchus. The tumor was partially resected, and that remaining was resected by transbronchial endoscopic surgery. No finding of recurrence of the endobronchial hamartoma was detected by endoscopy or biopsy for 3 years. A combination of bronchoplasty and transbronchial endoscopic surgery benefits patients with large endobronchial hamartoma by preserving the lung parenchyma.

Bronchi↗
PubMed1999

Mammary hamartomas: an immunohistochemical study of ten cases.

Ten cases of breast hamartomas were reviewed; the patients' age ranged from 31 to 55 (mean 40.4, median 39). All cases presented with a palpable, sometimes tender, lump. The typical mammographic feature was a well defined, round to lens shaped, variable dense mass, occasionally surrounded by a thin radiolucent zone. All hamartomas were unilateral (4 in the right and 6 in the left breast, respectively) and no recurrence occurred after local excision. The tumor size ranged from 5 to 150 mm (mean 54 mm). Histologically all hamartomas were composed of a typical fibrous, adipose and glandular tissue combination. Immunohistochemically there was a strong positivity for cytokeratin and epithelial membrane antigen in the epithelial cells, a positive finding for vimentin and muscle-specific actin in stromal and myoepithelial cells, and for S-100 protein in myoepithelial cells. Vessels endothelial cells were immunoreactive for Factor VIII. Immunohistochemical analysis of hormone receptors completed on formaldehyde-fixed paraffin-embedded specimens, showed estrogen and progesterone receptors positivity in 9 cases and estrogen positive progesterone negative receptors in one case. In all cases the receptorial positivity was limited to the epithelial elements. These data revealed that 1) breast hamartoma is a benign, tumor-like lesion, histologically dissimilar from other lesions such as fibroadenoma and pseudoangiomatous hyperplasia; and 2) hamartoma tissue is influenced by hormones like the surrounding normal breast parenchyma.

Adult↗
PubMed2001

Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1.

BACKGROUND: Retinal tumors are occasionally seen in patients with neurofibromatosis type-1 (NF-1). These are usually astrocytic hamartomas or angiomas. Combined hamartoma of the retina and retinal pigment epithelium are tumors also described in NF-1, but this association has not been definitively established yet. METHOD: We report on a child with NF-1, who presented a combined hamartoma of the retina and retinal pigment epithelium in both eyes. RESULTS: The diagnosis of bilateral combined hamartoma of the retina and retinal pigment epithelium in our patient was performed on the basis of the ophthalmoscopic appearance of the lesions. NF-1 was diagnosed following the current international clinical criterion, supplemented by neuroimaging findings. CONCLUSION: Despite the extreme rarity of this association, we believe that it is not coincidental, as the presence of a hamartomatous retinal lesion in a patient with a systemic hamartomatous neuroectodermic disease would be, at least, rational. Thus, NF-1 must be excluded in patients with combined hamartoma of the retina and retinal pigment epithelium.

Child↗
PubMed2001

CD-34 and Ki-67 staining patterns of basaloid follicular hamartoma are different from those in fibroepithelioma of Pinkus and other variants of basal cell carcinoma.

BACKGROUND AND AIMS: Basaloid follicular hamartoma is a rare disorder regarded as a developmental malformation. It may be solitary or generalized, linear or regionalized, and is sometimes associated with myasthenia gravis or alopecia. We compared immunohistochemical staining patterns of selected markers in order to differentiate this hamartoma from fibroepithelioma of Pinkus, a basal cell carcinoma variant it can be confused with. METHODS: The expression of three immunohistochemical markers--CD-34, Ki-67, bcl-2--was studied in a basaloid follicular hamartoma and in a fibroepithelioma of Pinkus. Two basal cell carcinomas, a nodular and a fibrosing type, and a trichoepithelioma were included as controls. RESULTS: Basaloid follicular hamartoma shows a low proliferation index and an at least focally circumferential expression of CD-34 around the epithelial strands. This compares to the findings in trichoepithelioma. In contrast, fibroepithelial tumor of Pinkus and two other basal cell carcinoma subtypes display a high proliferative index and an absence of CD-34 expression around the epithelium. These findings support the non-neoplastic nature of basaloid follicular hamartoma.

Adult↗