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3.
Ann R Coll Surg Engl ; 102(9): e1-e4, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32734771

RESUMO

Bile duct hamartomas are typically small benign liver lesions that can radiologically mimic metastases on ultrasound and computed tomography, as well as macroscopically. We present a rare and interesting case and review the relevant literature. A 49-year-old woman underwent ultrasound investigation for right upper quadrant pain, which revealed diffuse liver lesions. In the setting of her previous vulval cancer, it was suspected that she had hepatic metastases. This was strongly reinforced with computed tomography and elevated CA 19-9 levels. A liver biopsy revealed diffuse and multifocal bile duct hamartomas and positron emission tomography was negative for metastases or features of cancer recurrence. A diagnosis of diffuse liver hamartomatosis was made. In view of the continuing clinical and laboratory picture, she required regular follow-up. The collective features of this case are unique, as the isolated characteristics of particular interest have not been previously described in the context of a single case. Bile duct hamartomas should be included in the differential diagnosis of multiple liver lesions. CA 19-9 is not a reliable marker for differential diagnosis of this entity.


Assuntos
Hamartoma/diagnóstico , Hepatopatias/diagnóstico , Neoplasias Hepáticas/secundário , Diagnóstico Diferencial , Feminino , Hamartoma/diagnóstico por imagem , Hamartoma/patologia , Humanos , Fígado/diagnóstico por imagem , Fígado/patologia , Hepatopatias/diagnóstico por imagem , Hepatopatias/patologia , Neoplasias Hepáticas/diagnóstico , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Neoplasias Vulvares/patologia
4.
World Neurosurg ; 142: 396-400, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32711148

RESUMO

BACKGROUND: Hypothalamic hamartomas (HHs) are rare, and it is even rarer when combined with gray matter heterotopia (GMH) and polymicrogyria (PMG). CASE DESCRIPTION: A 5-year-old boy with HH, GMH, and PMG was retrospectively evaluated. The clinical data, including the symptoms, examinations, diagnosis, and treatment, were collected. The patient had a chief complaint of gelastic seizures and intellectual deficiency. Brain magnetic resonance imaging showed HH, paraventricular nodular heterotopia, and PMG. Video electroencephalographs were normal. The patient underwent resection of the HH via transcallosal transseptal interforniceal approach. Seizures disappeared immediately after complete resection of HH, and the intellectual development improved. CONCLUSIONS: In this extremely rare case, resection of the HH eliminated the symptoms. Nonetheless, we still need to be cautious about the possible epilepsy that may be caused by GMH and PMG.


Assuntos
Substância Cinzenta/patologia , Hamartoma/patologia , Doenças Hipotalâmicas/patologia , Polimicrogiria/patologia , Pré-Escolar , Hamartoma/cirurgia , Humanos , Doenças Hipotalâmicas/cirurgia , Deficiência Intelectual/etiologia , Masculino , Procedimentos Neurocirúrgicos/métodos , Convulsões/etiologia
5.
Pediatr Surg Int ; 36(8): 917-924, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32561985

RESUMO

PURPOSE: Analysis of surgical management and survival of pediatric patients with gastric tumors treated at our institution. METHODS: A retrospective study of patients with primary gastric tumors treated between 1993 and 2018 was conducted. RESULTS: Eight patients, five girls and three boys, were diagnosed with gastric tumors at an average age of 10.4 years (1 day-15.4 years). Surgical management included Billroth type I procedure in five and tumor excision in three patients. Histology revealed gastrointestinal stromal tumor (GIST) in four patients and one of each of schwannoma, myofibroblastic tumor, hamartoma and teratoma. Microscopically clear margins were reported in six patients. Repeated local recurrence occurred in three patients (2 × GIST, 1 × myofibroblastic tumors) who consequently underwent three, four and six reoperations. One of these patients had liver metastases, which were managed with ligation of the hepatic arteries. This patient was also diagnosed with a lung hamartoma, which was treated with a lobectomy. Survival rate was 100% with a median follow-up of 8.6 years (7 months-25.5 years). CONCLUSIONS: Gastric tumors are rare in children and represent a management challenge. Repeated recurrence of GISTs and myofibroblastic tumors remains frequent even after complete resection and may necessitate multiple surgeries, therefore patients require a lifelong follow-up.


Assuntos
Gastrectomia/métodos , Neoplasias Gastrointestinais/cirurgia , Hamartoma/cirurgia , Recidiva Local de Neoplasia/cirurgia , Neoplasias de Tecido Muscular/cirurgia , Neurilemoma/cirurgia , Teratoma/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Neoplasias Gastrointestinais/patologia , Hamartoma/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Neoplasias de Tecido Muscular/patologia , Neurilemoma/patologia , Estudos Retrospectivos , Análise de Sobrevida , Teratoma/patologia , Resultado do Tratamento
6.
World Neurosurg ; 141: 421-424, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32561490

RESUMO

BACKGROUND: Dysplastic gangliocytoma is a sporadic cerebellar benign tumor with the characteristics of hamartoma and true tumor, also known as Lhermitte-Duclos disease (LDD). Bone fibrous dysplasia (FD) is a slowly progressive self-limited benign bone tissue disease. Cowden syndrome, an autosomal dominant genetic disorder caused by germline mutations in the PTEN gene, is considered to be closely related to dysplastic gangliocytoma. McCune-Albright syndrome is a disease characterized by café-au-lait skin macules, polyostotic FD, and precocious puberty. The etiologic mechanism of both conditions is not yet clear. We report a rare case of bilateral dysplastic gangliocytoma with concurrent polyostotic FD. CASE DESCRIPTION: We describe a 16-year-old boy with both LDD and FD. He presented for medical examination with headache and poor eyesight. Magnetic resonance imaging revealed proliferation of the skull and abnormal signals in the cerebellum, and supratentorial hydrocephalus. Subtotal resection of the cerebellar tumor was performed, and the diagnosis of LDD and FD was confirmed by histopathology. No other abnormal changes were found in systemic medical examination and no PTEN gene mutation was found in the genetic analysis; therefore, the diagnoses of Cowden syndrome and McCune-Albright syndrome were excluded. CONCLUSIONS: LDD and FD are 2 rare diseases, and the simultaneous occurrence of the 2 conditions has not been reported before, to our knowledge. Our report challenges the etiology of the 2 diseases and the relationship between them, hoping to provide a reference for the study of the 2 diseases.


Assuntos
Neoplasias Cerebelares/cirurgia , Displasia Fibrosa Poliostótica/cirurgia , Ganglioneuroma/cirurgia , Síndrome do Hamartoma Múltiplo/cirurgia , Adolescente , Displasia Fibrosa Poliostótica/diagnóstico , Displasia Fibrosa Poliostótica/patologia , Ganglioneuroma/diagnóstico , Ganglioneuroma/patologia , Hamartoma/patologia , Hamartoma/cirurgia , Síndrome do Hamartoma Múltiplo/patologia , Humanos , Imagem por Ressonância Magnética/métodos , Masculino
7.
World Neurosurg ; 141: 85-90, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32492548

RESUMO

BACKGROUND: Ecchordosis physaliphora (EP) is a congenital, uniformly asymptomatic, hamartomatous lesion of the primitive notochord. Herein we report, to our knowledge, the first credible case report of unprovoked intrasphenoidal rupture resulting in recurrent pneumocephalus and cerebrospinal fluid leak, definitively captured over serial imaging during clinical and radiologic surveillance. CASE DESCRIPTION: A 68-year old woman with Marfan syndrome presented to the emergency department with the worst headache of her life. Imaging demonstrated extensive pneumocephalus and revealed a small, dorsal midline clival lesion consistent with EP and a transsphenoidal defect. Remote imaging encounters confirmed typical EP without pneumocephalus or cortical defect, and an uneventful clinical course years preceding presentation. Over the ensuing months during neurosurgical follow-up, the patient reported recurrent headaches, imbalance, and unprovoked clear rhinorrhea. Further imaging demonstrated an apparently enlarging transsphenoidal defect which was managed by endoscopic transnasal resection and nasoseptal flap. Pathologic evaluation confirmed the diagnosis of EP and chronic dural defect. CONCLUSIONS: This represents, to our knowledge, the first unambiguous example of spontaneous EP rupture and recurrent pneumocephalus captured over serial imaging. The case further underscores rare but potentially significant complications of EP and highlights management options.


Assuntos
Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/patologia , Pneumocefalia/diagnóstico por imagem , Pneumocefalia/patologia , Seio Esfenoidal/diagnóstico por imagem , Seio Esfenoidal/patologia , Idoso , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Feminino , Hamartoma/diagnóstico por imagem , Hamartoma/patologia , Hamartoma/cirurgia , Humanos , Malformações do Sistema Nervoso/cirurgia , Notocorda/patologia , Pneumocefalia/cirurgia , Osso Esfenoide , Seio Esfenoidal/cirurgia , Resultado do Tratamento
9.
Epileptic Disord ; 22(2): 165-175, 2020 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-32364505

RESUMO

This study aimed to characterize, clinically and neurophysiologically, a series of patients with gelastic seizures (GS), including both adults and children. We retrospectively collected patients with GS from epilepsy clinics of five tertiary hospital centres within a single country. Patients were selected through relatives'/caregivers' descriptions, home video and/or video-EEG monitoring. GS were identified through ictal semiology. Thirty-five patients were enrolled; 62.9% had initial GS in infancy, 14.3% in adolescence and 22.8% at adult age. Twenty-six had abnormal MRI: eight presented with hypothalamic hamartoma (HH) and 16 non-HH lesions that included different structural aetiologies and genetic, metabolic and immune aetiologies. All patients with HH had their first GS in infancy or adolescence. For the remaining aetiologies, GS started in infancy in 59.3%, in adolescence in 11.1% and at adult age in 29.6%. Video-EEG data was available for analysis in 11 patients, including seven patients with a non-HH MRI lesion. The ictal onset topography on scalp video-EEG was usually concordant with the MRI lesion (in 6/7 patients) and the most frequent ictal onset was fronto-temporal. In two patients, both video-EEG and MRI suggested a parietal and occipital epileptogenic zone. Aetiologies and patterns of affected topography unrelated to HH are common in patients with GS, and all age groups may manifest with this type of ictal semiology. This ictal manifestation has no lateralizing value and, despite a clear preponderance for hypothalamic, frontal and temporal lobe origins, other brain areas, namely the parietal and occipital lobes, should be considered.


Assuntos
Epilepsias Parciais/diagnóstico , Epilepsias Parciais/fisiopatologia , Hamartoma/diagnóstico , Hamartoma/fisiopatologia , Doenças Hipotalâmicas/diagnóstico , Doenças Hipotalâmicas/fisiopatologia , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Eletroencefalografia , Epilepsias Parciais/epidemiologia , Epilepsias Parciais/patologia , Feminino , Hamartoma/epidemiologia , Hamartoma/patologia , Humanos , Doenças Hipotalâmicas/epidemiologia , Doenças Hipotalâmicas/patologia , Lactente , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Portugal/epidemiologia , Estudos Retrospectivos , Centros de Atenção Terciária , Adulto Jovem
10.
Rev Mal Respir ; 37(6): 492-496, 2020 Jun.
Artigo em Francês | MEDLINE | ID: mdl-32430157

RESUMO

Endobronchial hamartochondroma is a rare benign tumor which differs from the parenchymal form in its symptomatology and also by its treatment which should be as conservative as possible. The endobronchial location is exceptional. Here we present the cases of two patients with endobronchial hamartochondroma associated with clinical manifestation, chest pain and repeated pulmonary infections, respectively. The diagnosis was made after performing a CT-scan, a PET-SCAN and histological analysis. After discussion in a multidisciplinary staff meeting, conservative treatment was chosen in both cases.


Assuntos
Obstrução das Vias Respiratórias/etiologia , Neoplasias Brônquicas/complicações , Condroma/complicações , Hamartoma/complicações , Fumar Tabaco/efeitos adversos , Idoso , Obstrução das Vias Respiratórias/diagnóstico , Obstrução das Vias Respiratórias/patologia , Obstrução das Vias Respiratórias/cirurgia , Neoplasias Brônquicas/diagnóstico , Neoplasias Brônquicas/patologia , Neoplasias Brônquicas/cirurgia , Broncoscopia/métodos , Condroma/diagnóstico , Condroma/patologia , Condroma/cirurgia , Feminino , Hamartoma/diagnóstico , Hamartoma/patologia , Hamartoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons , Fumar Tabaco/patologia , Tomografia Computadorizada por Raios X
12.
Virchows Arch ; 477(4): 527-534, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32296928

RESUMO

The distinction between well-differentiated intrahepatic cholangiocarcinoma (iCCA) from its morphological mimics such as bile duct adenoma (BDA) and hamartoma (BDH) can be challenging, particularly in small biopsies. Although a few cases of BDA and BDH have been reported to undergo malignant transformation into iCCA, their neoplastic versus benign nature remains debated. DNA flow cytometry was performed on 47 formalin-fixed paraffin-embedded samples of iCCA, 14 BDA, and 18 BDH. Aneuploidy was detected in 22 iCCA (47%) but in none of the 32 BDA and BDH samples. Among the 34 iCCA patients who underwent complete resection and were followed up to tumor recurrence, tumor-related death, or at least for 1 year, the overall recurrence or death rates (regardless of flow cytometric results) were 18, 56, and 71% within 1, 3, and 5 years, respectively. The 1-, 3-, and 5-year recurrence or death rates in 18 iCCA patients with aneuploidy were 28, 66, and 66%, respectively, whereas 16 iCCA patients in the setting of normal DNA content had 1-, 3-, and 5-year rates of 6, 44, and 72%, respectively. Although aneuploid tumors were associated with worse outcomes during the first 3 years, this difference was not statistically significant (hazard ratio = 1.4, p = 0.473) in the present sample size. In conclusion, the frequency of aneuploidy was significantly higher in iCCA (47%) than in its benign morphological mimics (0%), suggesting that it may potentially serve as a diagnostic marker of malignancy in challenging situations. Our findings also suggest that most BDAs and BDHs, if not all, are benign entities and may not represent precursor lesions to iCCAs that often harbor aneuploidy. Although a larger cohort will be necessary to further determine the prognostic significance of aneuploidy in iCCA patients after resection, the patients with aneuploid tumors may have a higher risk for tumor progression, especially during the first 3 years.


Assuntos
Adenoma/genética , Aneuploidia , Neoplasias dos Ductos Biliares/genética , Colangiocarcinoma/genética , DNA de Neoplasias/genética , Citometria de Fluxo , Hamartoma/genética , Adenoma/mortalidade , Adenoma/patologia , Adenoma/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias dos Ductos Biliares/mortalidade , Neoplasias dos Ductos Biliares/patologia , Neoplasias dos Ductos Biliares/cirurgia , Colangiocarcinoma/mortalidade , Colangiocarcinoma/patologia , Colangiocarcinoma/cirurgia , Bases de Dados Factuais , Diagnóstico Diferencial , Progressão da Doença , Feminino , Hamartoma/mortalidade , Hamartoma/patologia , Hamartoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Fatores de Risco , Fatores de Tempo
13.
Medicine (Baltimore) ; 99(11): e19489, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32176087

RESUMO

RATIONALE: Fibrous hamartoma of infancy (FHI) is a rare benign soft-tissue tumor in children with a triphasic organoid histologic appearance. PATIENT CONCERNS: We here report a case with the largest FHI published so far. A 13-month-old boy with a rapidly growing tumor 45 cm in length and 69.3 cm in circumference of the left lower extremity was identified immediately at birth. DIAGNOSES: The diagnosis was uncertain before the operation, although biopsy was conducted. The postoperation histological examination showed arranged spindle cells, adipose tissue, and nests of immature small cells embedded in a myxoid background, which is the characteristic triphasic histology of FHI. INTERVENTIONS: Under general anesthesia, hip and lower extremity amputation was performed. OUTCOMES: The patient was followed-up for 6 years and no signs of recurrence were found, suggesting a favorable prognosis, although a part of the residual tumor was present after the surgery. LESSONS: FHI exhibits pathological and clinical characteristics. However, differential diagnosis of FHI from other soft-tissue tumors before operation remains a challenge. Thus, sometimes, aggressive therapy for the treatment of FHI might be a good choice to get a satisfactory.


Assuntos
Hamartoma/diagnóstico por imagem , Perna (Membro) , Neoplasias de Tecidos Moles/diagnóstico por imagem , Tecido Adiposo/patologia , Amputação , Angiografia por Tomografia Computadorizada , Diagnóstico Diferencial , Hamartoma/patologia , Hamartoma/cirurgia , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/cirurgia
14.
Trop Doct ; 50(1): 68-70, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31451057

RESUMO

Brunner's gland hamartoma (or Brunneroma) is an uncommon tumour with an incidence of <0.01%, accounting for approximately 5-10% of benign duodenal tumours. Usually asymptomatic, it may manifest occasionally with duodenal obstruction or upper gastrointestinal haemorrhage and rarely with biliary fistulation, cholestatic jaundice and intussusception. It may be associated with uraemia and chronic pancreatitis. The diagnosis is usually confirmed by imaging studies and upper gastrointestinal endoscopy. Surgical excision or endoscopic resection is preferred for symptomatic large hamartomas. Here we report a case of 45-year-old man presenting with features of pancreatitis and gastric outlet obstruction due to a large Brunner's gland hamartoma, on his endoscopic, radiologic, surgical and pathologic findings.


Assuntos
Glândulas Duodenais/patologia , Neoplasias Duodenais/complicações , Obstrução da Saída Gástrica/etiologia , Hamartoma/complicações , Pancreatite/etiologia , Glândulas Duodenais/diagnóstico por imagem , Glândulas Duodenais/cirurgia , Neoplasias Duodenais/diagnóstico por imagem , Neoplasias Duodenais/patologia , Neoplasias Duodenais/cirurgia , Obstrução da Saída Gástrica/diagnóstico por imagem , Obstrução da Saída Gástrica/patologia , Obstrução da Saída Gástrica/cirurgia , Hamartoma/diagnóstico por imagem , Hamartoma/patologia , Hamartoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Pancreaticoduodenectomia , Pancreatite/diagnóstico por imagem , Pancreatite/patologia , Pancreatite/cirurgia , Resultado do Tratamento
15.
Pediatr Blood Cancer ; 67(1): e27973, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31545011

RESUMO

Hamartoma is the most common benign pulmonary tumor in adults, but is rarely described in the pediatric population. Giant chondromatous and progressive forms are even rarer. We report the novel case of a 13-month-old infant hospitalized for giant pulmonary chondromatous hamartoma discovered during a septic episode, rapidly progressive, with severe multifocal lesions, without clear response to several cytotoxic therapies. No predisposition syndrome was identified.


Assuntos
Hamartoma/patologia , Pneumopatias/patologia , Terapia Combinada , Feminino , Hamartoma/diagnóstico por imagem , Hamartoma/terapia , Humanos , Lactente , Pneumopatias/diagnóstico por imagem , Pneumopatias/terapia , Prognóstico , Tomografia Computadorizada por Raios X/métodos
16.
Pediatr Dermatol ; 37(1): 251-253, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31840858

RESUMO

Cutaneous smooth muscle hamartoma is an uncommon, benign tumor developing in the dermis as a result of disorganized hyperproliferation of arrector pili muscle fibers. We present a 1-month-old infant with a congenital smooth muscle hamartoma together with the dermoscopic findings of the case. Dermoscopy can be a helpful non-invasive tool in diagnosing congenital smooth muscle hamartoma due to its distinct findings that help to differentiate it from close mimickers like solitary mastocytoma.


Assuntos
Dermoscopia , Hamartoma/patologia , Músculo Liso/patologia , Doenças Musculares/patologia , Neoplasias Cutâneas/patologia , Diagnóstico Diferencial , Hamartoma/congênito , Hamartoma/diagnóstico , Humanos , Recém-Nascido , Masculino , Músculo Liso/anormalidades , Doenças Musculares/congênito , Doenças Musculares/diagnóstico , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/diagnóstico
17.
Acta Med Okayama ; 73(6): 529-532, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31871336

RESUMO

Nasal chondromesenchymal hamartoma (NCMH), a rare, benign, nasal cavity tumor, typically occurs in children. Differential diagnosis is difficult because NCMH often presents with non-specific findings, including cystic components and invasion of the surrounding area on T2-weighted magnetic resonance images. Here, we present a rare adult case of NCMH, with no clear hyperintensity on diffusion-weighted images (DWI), and bone remodeling on the tumor margins on computed tomography. To the best of our knowledge, this is the first report of DWI on NCMH, and these findings, which suggest benign disease, may be useful in diagnosing NCMH.


Assuntos
Hamartoma/classificação , Hamartoma/diagnóstico por imagem , Neoplasias Nasais/classificação , Neoplasias Nasais/diagnóstico por imagem , Hamartoma/patologia , Hamartoma/cirurgia , Humanos , Masculino , Neoplasias Nasais/cirurgia , Adulto Jovem
18.
Medicine (Baltimore) ; 98(50): e18372, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31852146

RESUMO

RATIONALE: Mammary hamartoma is a rare benign breast tumor, composed of ducts, lobules, fibers, and adipose tissue. We describe a mammary hamartoma in a man; this is the fourth case being reported in the literature. PATIENT CONCERNS: A 30-year-old man presented with a 1-month history of a painless mass in his right breast. DIAGNOSIS: Ultrasound imaging and mammography revealed a lesion, approximately 2.0 cm × 2.0 cm in size, in the right breast, which was considered to be either a lipomyoma or an adenoma fibrosum. INTERVENTIONS: The mass was surgically resected. Pathological examination confirmed the diagnosis of mammary hamartoma. OUTCOMES: The patient was discharged from the hospital after surgery. There was no sign of reoccurrence during a 1-year follow-up period. LESSONS: At present, mammary hamartoma is considered to be a benign lesion, usually treated by surgical resection. Some reports have suggested a possible association between a hamartoma and the development of breast malignancy. The pathology and biology of an association between a mammary hamartoma and malignancy have not been defined to date.


Assuntos
Neoplasias da Mama Masculina/patologia , Hamartoma/patologia , Adulto , Neoplasias da Mama Masculina/diagnóstico , Neoplasias da Mama Masculina/cirurgia , Hamartoma/diagnóstico , Hamartoma/cirurgia , Humanos , Masculino , Mamografia , Ultrassonografia
19.
Autops. Case Rep ; 9(4): e2019107, Oct.-Dec. 2019.
Artigo em Inglês | LILACS | ID: biblio-1023992
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