Hamartoma fibrovascular facial grave en paciente con esclerosis tuberosa (ET). Resolución de caso problema. Nuestra experiencia / Severe facial fibrovascular hamartoma in a patient with tuberous sclerosis (TS). Problem case resolution. Our experience

La ET es un trastorno multisistémico autosómico dominante que se caracteriza por displasia celular y tisular en varios órganos (cerebro, corazón, piel, ojos, riñones, pulmones) que constituyen una fuente importante de morbilidad y mortalidad. Las manifestaciones comunes incluyen tubérculos corticales, nódulos subependimarios, astrocitomas subependimarios de células gigantes, convulsiones, rabdomiomas cardíacos, AML renales, hamartomas retinianos, linfangioleiomiomatosis pulmonar, angiofibromas faciales, manchas de hojas de ceniza, parches de Shagreen, discapacidad intelectual y trastorno del espectro autista. Se presenta a continuación la resolución de un caso problema grave de una paciente que llega a la consulta al hospital público, con severa incapacidad para mantener la permeabilidad de la válvula nasal externa, a expensas de formación harmartomatosa grave, de años de evolución, fétida y sangrante, decidiéndose tomar conducta quirúrgica urgente y agresiva dada las condiciones de la lesión, la poca colaboración de la paciente y el contexto familiar de la misma que presenta además trastornos conductuales asociados a manifestaciones neurológicas de la enfermedad (retraso madurativo)

ET is an autosomal dominant multisystem disorder characterized by cellular and tissue dysplasia in several organs (brain, heart, skin, eyes, kidneys, lungs) that constitute a major source of morbidity and mortality. Common manifestations include cortical tubercles, subependymal nodules, subependymal giant cell astrocytomas, seizures, cardiac rhabdomyomas, renal AML, retinal hamartomas, pulmonary lymphangioleiomyomatosis, facial angiofibromas, ash leaf spots, shagreen patches, intellectual disability, and autism spectrum disorder. This paper presents the resolution of a serious problem case of a patient who attends the consultation of a public hospital, with severe inability to maintain the patency of the external nasal valve, at the expense of severe harmartomatous formation, of many years of evolution, fetid and bleeding, deciding to undertake urgent and aggressive surgical conduct given the conditions of the lesion, the lack of collaboration of the patient and the family context of the same, which also presents behavioral disorders associated with neurological manifestations of the disease (maturational delay).

Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

Cardiac rhabdomyoma is a benign tumor which constitutes the most common cardiovascular feature of the tuberous sclerosis complex, a multisystem genetically determined neurocutaneous disorder. Cardiac rhabdomyomas can be detected in the prenatal ultrasound, are usually asymptomatic and spontaneously regress within the first three years of life. Less often, the tumors' size, number, and location can produce a mass effect that may lead to blood flow abnormalities or organ dysfunction (heart failure and arrhythmia). In this setting, severe morbidity, and eventually, a lethal outcome despite clinical and surgical treatment may ensue. We describe a fatal case of multiple cardiac rhabdomyomas in a newborn girl. One of the rhabdomyomas was large and unfavorably located, causing significant obstruction of the left ventricular outflow tract. The autopsy identified, in addition to cardiac rhabdomyomas, brain glioneuronal hamartomas (cortical tubers), subependymal nodules and subependymal giant cell tumors, characteristic of the tuberous sclerosis complex. The newborn's family was investigated for the presence of typical clinical symptoms of the complex and image findings showed significant phenotypical variations and a broad symptom spectrum among the family members. This interesting case underscores the variability of tuberous sclerosis complex and the importance of performing a comprehensive postmortem examination in the identification of the cause of death, especially in the setting of familial disease.

Caso Clínico: Linfangioleiomiomatosis en una Paciente Joven con Síndrome de Bourneville

INTRODUCCIÓN: El síndrome de Bourneville o esclerosis tuberosa es una alteración innata del desarrollo que se transmite de forma autosómica dominante, es causada por mutación en los genes TSC1 y TSC2. Se presenta en 1 de cada 6 000 habitantes; se considera una forma rara de facomatosis susceptible de originar tumores benignos en diversas zonas del cuerpo, entre los que se cita: angiomiolipomas renales, tumores del sistema nervioso, retina, corazón, piel y linfangioleiomiomatosis pulmonar; siendo la última una patología pulmonar quística, progresiva, que afecta a las mujeres en edad fértil y puede ser potencialmente mortal. CASO CLÍNICO: Se trata de una paciente de sexo femenino de 23 años de edad, mestiza, con antecedentes de esclerosis tuberosa, hipotiroidismo y nefrectomía izquierda por angiomiolipoma; que presentó un neumotórax espontáneo secundario a linfangioleiomiomatosis pulmonar. EVOLUCIÓN: En base a los antecedentes patológicos, cuadro clínico y estudios de imagen se diagnosticó de linfangioleiomiomatosis pulmonar. Se realizó una pleurodesis y se inició tratamiento con Sirolimus; la respuesta fue satisfactoria, se mantuvieron controles médicos periódicos evaluando la posibilidad de trasplante pulmonar a futuro. CONCLUSIÓN: El neumotórax espontáneo en una mujer joven con esclerosis tuberosa se asocia a linfangioleiomiomatosis pulmonar; en la actualidad esta patología es manejada con Sirolimus, los resultados han sido favorables en la función pulmonar y calidad de vida del paciente; el trasplante pulmonar sigue siendo el tratamiento de elección en la enfermedad avanzada.(au)

BACKGROUND: Bourneville syndrome or tuberous sclerosis is an innate development alteration transmitted by autosomal dominant inheritance. It is caused by TSC1 and TSC2 gene mutations and occurs in 1 of every 6 000 people. It is considered a rare form of phacomatosis that can cause multiple benign tumors including renal angiomyolipomas and tumors of the central nervous system, retina, heart and skin; pulmonary lymphangioleiomyomatosis can be part of the clinical presentation, affects women of childbearing age and can be life-threatening. CASE REPORT: 23 year-old female patient with history of tuberous sclerosis, hypothyroidism and left nephrectomy for angiomyolipoma, who presented a spontaneous pneumothorax secondary to pulmonary lymphangioleiomyomatosis. EVOLUTION: Based on the history, clinical picture and imaging studies; the diagnosis of pulmonary lymphangioleiomyomatosis was made. A pleurodesis was performed and a treatment with Sirolimus was started; the response was satisfactory, periodic controls were maintained evaluating the possibility of lung transplant in the future. CONCLUSION: Spontaneous pneumothorax in a young woman with tuberous sclerosis is associated with pulmonary lymphangioleiomyomatosis. Currently this pathology is managed with Sirolimus, the results have been favorable , improving pulmonary function and quality of life; lung transplantation remains the treatment of choice in advanced disease.(au)

Onychogryphosis in tuberous sclerosis complex: an unusual feature

Abstract Onychogryphosis is an acquired nail plate change. It often affects the toenail and is characterized by an opaque, yellow-brownish nail plate that is distorted, grossly thickened, elongated, and partly curved resembling a ram's horn. Tuberous sclerosis complex is a multisystem disorder associated with high rates of mental retardation, autism, cognitive impairment, behavioral problems, or seizures. Nail disease can also be associated, which is a concern to patients due to pain and nail distortion. We reported a typical tuberous sclerosis complex patient with distinctive clinical features of a ram's horn nails, which presented a great challenge to surgical treatment and nail restoration.

Respuesta a la rapamicina en un paciente trasplantado renal con esclerosis tuberosa / Response to rapamycin in a kidney transplant patient with tuberous sclerosis

La esclerosis tuberosa (ET) es un síndrome neurocutáneo autosómico dominante causado por mutaciones en los genes de supresión tumoral TSC1/TSC2, con la consecuente formación de hamartomas y tuberomas en múltiples órganos. Reportamos una paciente que a los 21 años de edad es trasplantada por insuficiencia renal crónica idiopática, a la cual se le diagnostica ET posterior a trasplante renal. A nivel mucocutáneo presentaba las manifestaciones características de la enfermedad. Además refería el antecedente de sufrir crisis comiciales que se correlacionaron con el hallazgo de tuberomas corticales en encéfalo, como así también en el parénquima pulmonar. Dentro del esquema terapéutico inmunosupresor post-trasplante que recibió la paciente se encontraba la rapamicina, un inhibidor de la proteína mTOR (mammalian Target of Rapamycin), que participa en la proliferación y muerte celular. Durante el tratamiento se pudo observar una mejoría clínica de los angiofibromas faciales y del tuberoma pulmonar (AU)

Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous syndrome caused by mutations in tumor suppressor genes TSC1/TSC2, with the consequent formation of hamartomas and tuberomas in multiple organs. A female patient diagnosed with TS after kidney transplantation because idiopathic chronic kidney disease at the age of 21-year-old is reported. Characteristic mucocutaneous manifestations of the disease were present at the examination. Patient also referred a history of seizures which were correlated with cortical tuberomas found in brain, as well as in the lung parenchyma. Patient was treated with rapamycin in the post- transplant immunosuppressive scheme, an inhibitor of mTOR (mammalian Target of Rapamycin), which is involved in proliferation and cell death. Clinical improvement of facial angiofibromas and pulmonary tuberoma were observed during treatment (AU)

Partial epilepsy: A pictorial review of 3 TESLA magnetic resonance imaging features

Epilepsy is a disease with serious consequences for patients and society. In many cases seizures are sufficiently disabling to justify surgical evaluation. In this context, Magnetic Resonance Imaging (MRI) is one of the most valuable tools for the preoperative localization of epileptogenic foci. Because these lesions show a large variety of presentations (including subtle imaging characteristics), their analysis requires careful and systematic interpretation of MRI data. Several studies have shown that 3 Tesla (T) MRI provides a better image quality than 1.5 T MRI regarding the detection and characterization of structural lesions, indicating that high-field-strength imaging should be considered for patients with intractable epilepsy who might benefit from surgery. Likewise, advanced MRI postprocessing and quantitative analysis techniques such as thickness and volume measurements of cortical gray matter have emerged and in the near future, these techniques will routinely enable more precise evaluations of such patients. Finally, the familiarity with radiologic findings of the potential epileptogenic substrates in association with combined use of higher field strengths (3 T, 7 T, and greater) and new quantitative analytical post-processing techniques will lead to improvements regarding the clinical imaging of these patients. We present a pictorial review of the major pathologies related to partial epilepsy, highlighting the key findings of 3 T MRI.

Analysis of twenty pediatric cases of tuberous sclerosis complex: Are we doing enough.

Background: Tuberous sclerosis complex (TSC) is a neuro-cutaneous disease characterized by hamartoma formation in various organs particularly the skin, brain, eye, kidney, heart and lungs. Patients usually have multisystem involvement and thus present to different medical specialties with varied complaints while the true nature of the disease and the hidden manifestations may remain unattended. A im: To assess the frequency and characteristics of various cutaneous and systemic manifestations in TSC and the total impact on different system in a cohort of pediatric patients. Methods: The study included 20 patients fulfilling the diagnostic criteria for TSC from dermatology, pediatrics, and neurology department. Detailed history, examination, and investigations such as chest X-ray, electrocardiography (ECG), ultrasonography (USG) abdomen, echocardiography, fundoscopy, computed tomography (CT) scan of brain and abdomen were done. Results: Dermatological manifestations included ash leaf macules, angiofibromas, shagreen patch, and fibrous plaque. Systemic findings observed were subependymal calcified nodules, subependymal giant cell astrocytoma, cortical tubers, renal cysts, angiomyolipomas, lung cyst, retinal hamartomas, mental deficits and epilepsy. Limitation: Wechsler's Intelligence Scale for Children would have been more appropriate for assessing the intelligence. Dental check-up was not done in our group of patients. Conclusion: Our study highlights the wide variety of cutaneous and systemic manifestations of TSC. The study emphasizes the need for comprehensive multidisciplinary treatment and periodic follow-up which are necessary for appropriate management of this multisystem disorder. Counseling regarding education and rehabilitation of the patients and genetic counseling of parents are important.

Esclerosis tuberosa / Tuberous sclerosis

La esclerosis tuberosa es un cuadro sistémico, cuya característica principal es la presencia de hamartomas múltiples que afectan fundamentalmente la piel, el sistema nervioso central, los ojos, el corazón, los riñones, los pulmones y los huesos. Se transmite en forma autosómica dominante y ocurre por mutaciones en dos genes, TCS1 y TCS2, que codifican las proteínas hamartina y tuberina, respectivamente, y se comportan como supresores tumorales. Existen criterios diagnósticos mayores y menores bien establecidos para su reconocimiento y, por ser una genodermatosis compleja, requiere un manejo interdisciplinario. El dermatólogo tiene un rol importante en su reconocimiento, ya que varias de las manifestaciones clínicas tempranas son cutáneas.

Tuberous sclerosis is a systemic disorder characterized by multiple hamartomas that mainly affect central nervous system, eyes, heart, kidneys, lungs and bones. It is inherited as an autosomal dominant trait and determined by the mutations of two genes, TCS1 and TCS2, that codify the proteins hamartine and tuberine respectively and are tumoral suppressor genes. Well established major and minor diagnostic criteria exist for its recognition. This is a complex genetic disease and patients need a multidisciplinary follow-up. Dermatologists have an important role in its recognition once several early manifestations are cutaneous.

Complejo nódulo subependimario-astrocitoma subependimario gigantocelular en niños con esclerosis tuberosa / Subependymal nodules-subependymal giant cell astrocytoma complex in children with tuberous sclerosis

El objetivo fue describir las características clínico imagenológicas de niños con esclerosis tuberosa que presentaron el complejo Nódulo Subependimario (NS)-Astrocitoma Subependimario Gigantocelular(ASGC) y analizar el comportamiento evolutivo de dicho "complejo" para detectar precozmente su crecimiento y evitar las complicaciones de la hipertensión endocraneana (HTE). Evaluamos 22 pacientes con diagnóstico anátomo patológico de ASGC. El diagnóstico del tumor se realizó a una media de 10.1 años. Pudimos observar la evolución de NS a ASGC; estos NS se ubicaron adyacentes al agujero de Monro y con el tiempo tuvieron un importante crecimiento con intensa captación de contraste e hidrocefalia. La aceleración en el crecimiento de estos NS y su "transformación" en ASGC se produjo a los 10 años de edad promedio, con un diámetro medio de 9 mm. Ningún NS alejado de los forámenes de Monro evolucionó a ASGC. Quince pacientes (68%) fueron operados con síntomas de hipertensión endocraneana. La edad media de la cirugía fue 10.8 años. Seis pacientes presentaron déficit visual. En estos últimos, el diámetro medio mayor del tumor fue 31.5 mm, mayor que los 18.7 mm del grupo de pacientes que no presentó secuela visual. El seguimiento clínico imagenológico periódico de toda lesión subependimaria próxima a los agujeros de Monro, permitiría en etapa presintomática anticipar un tratamiento quirúrgico, que reduciría la incidencia de HTE. Estudios prospectivos podrían determinar si el complejo NS-ASGC corresponde a una misma entidad en distinta etapa evolutiva, o son dos lesiones con diferente potencial de crecimiento.

The object of this paper is to describe the imaging and clinical characteristics of subependymal nodule (SN) - subependymal giant cell astrocytoma (SGCA) complex in tuberous sclerosis and analyze its evolution in order to attempt early detection and the prevention of intracranial hypertension. We evaluated 22 patients with the pathological diagnosis of SGCA. The diagnosis was made at a median of 10.1 years old. We were able to observe the evolution of SN to ASGC: these SN were localized adjacent to the foramen of Monro and with time they underwent an important development with intense contrast enhancement and hydrocephalus. The acceleration in SN growth and its "transformation" into SGCA occurred at an average of 10 years of age, with a mean diameter of 9 mm. No SN located far from the foramen of Monro evolutioned to SGCA. Fifteen patients (68%) were operated with symptoms of intracranial hypertension. Average age at surgery was 10.8 years old. Six patients presented visual deficit and in these, the average diameter of the tumor was 31.5 mm, a high value when compared to 18.7 mm in the patients without visual deficit. The imaging and clinical follow-up of any subependymal lesion close to the foramen of Monro will permit, at a presymptomatic stage, an anticipation of surgical treatment thus reducing intracranial hypertension incidence. Prospective studies could determine whether the SN-SGCA complex corresponds to the same entity in distinct evolution stages or to two lesions with different growth potential.

Forehead plaque: a cutaneous marker of CNS involvement in tuberous sclerosis.

BACKGROUND: Tuberous sclerosis complex (TSC) is a neurocutaneous genodermatosis characterized by hamartoma formation in multiple organs. There are no definite cutaneous markers suggestive of central nervous system (CNS) involvement in TSC. Aims: To study association of forehead plaque seen in tuberous sclerosis patients and CNS involvement in TSC. METHODS: This is a retrospective study of 15 cases of tuberous sclerosis in varying age groups - from 1.5 to 50 years. All the cases were thoroughly evaluated with detailed history; clinical examination; and relevant investigations like X-rays of chest, skull, hands and feet; ultrasound abdomen and computed tomography of brain. RESULTS: Out of the 15 cases, CNS involvement was seen in 8 cases. Seizures were present in 8 cases (53.33%) and mental retardation was seen in 6 cases (40%). Computerized tomography of brain revealed subependymal nodules (SENs) in eight cases (53.33%). In addition to SENs, subependymal giant cell astrocytomas and cortical tubers were seen in 2 cases each. Out of these 8 cases having CNS involvement, in 7 cases forehead plaque was observed. In 1 case, no forehead plaque was observed (X 2 = 1.07, P < 0.05). CONCLUSION: This study shows that there is a statistically significant relationship between the presence of a forehead plaque and CNS involvement in TSC. Therefore, forehead plaque may be considered as a novel cutaneous marker to know the CNS involvement in TSC at an early stage.

Intracranial manifestations of tuberous sclerosis: a pictorial essay

Tuberous sclerosis is an autosomal dominant genetic disease that involves multiple organs. Hamartomas are the predominant lesions. Classically, tuberous sclerosis has been characterized by a classical clinical triad of facial angiofibromas [90%], mental retardation [50-80%], seizure [80-90%] and all three in 30% of the patients. Two major features or one major feature plus two minor features are necessary for the definite diagnosis of this disease. We had some patients admitted with different presentations of tuberous sclerosis and a past history of convulsion from childhood, skin lesions and also mental retardation with a new onset headache and a changed pattern of convulsion. In physical examination, facial angiofibromas and subungual fibromas were apparently detected. Brain CT scan study with contrast showed multiple calcified nodules associated with tubers, ventriculomegaly and also enhancing enlarged nodules at the foramen of Monro, which were suggestive of subependymal giant cell astrocytoma [SGCA]. MRI showed the same brain findings [tubers, white matter lesions and subependymal nodules associated with SGCA], which were detected better. After surgery, SGCA was proved. In abdominal and pelvic CT scan and ultrasonography, massive bilateral angiomyolipomatosis and focal hypodense hyperechoic liver lesions were detected

Astrocitoma subependimário de células gigantes em pacientes com esclerose tuberosa: achados em ressonância magnética de dez casos / Subependymal giant cell astrocytoma in patients with tuberous sclerosis: magnetic resonance imaging findings in ten cases

OBJETIVO: Relatar os achados de ressonância magnética (RM) em 10 casos de astrocitoma subependimário de células gigantes (ASCG) em pacientes com esclerose tuberosa (ET). MÉTODO: Foram estudados de forma retrospectiva 10 pacientes com ET e diagnóstico histológico comprovado de ASCG. Quatro pacientes eram do sexo masculino e seis do feminino, com idade média de 15,7 anos. Todos os pacientes foram investigados com RM, sendo os exames revisados por dois radiologistas, havendo decisão por consenso sobre os achados de imagem. Foram analisados os seguintes achados: localização, dimensões, intensidade de sinal em T1/T2, realce pós-contraste e outros achados associados. RESULTADOS: Todos os pacientes apresentaram lesão única sugestiva de ASCG, medindo entre 1,5 cm e 8 cm em seu maior diâmetro. Oito lesões foram encontradas junto ao forame de Monro (80 por cento) e duas adjacentes ao corpo do ventrículo lateral (20 por cento). Os tumores apresentavam nas imagens pesadas em T1 médio sinal (70 por cento) e em T2 alto sinal (100 por cento), com realce intenso após a administração do gadolínio (100 por cento). CONCLUSÃO: Os astrocitomas subependimários de células gigantes em pacientes com ET em geral apresentam-se como lesão única próxima ao forame de Monro, com médio sinal nas imagens ponderadas em T1, alto sinal em T2 e realce intenso após a administração de contraste.

OBJECTIVE: To report the magnetic resonance imaging (MRI) findings in 10 patients with subependimal giant cell astrocytoma (SGCA) and tuberous sclerosis (TS). METHOD: Ten patients were retrospectively studied, presenting TS and histologically proven SGCA. Four patients were male and six female, with mean age 15.7 years. All patients underwent MRI, which was analyzed by two radiologists, final diagnosis was reached by consensus. The following findings were studied: topography, size, signal intensity on T1/T2-weighted images, contrast enhancement and associated findings. RESULTS: All patients presented a single lesion suggestive of SGCA, measuring between 1.5 cm and e 8 cm in the largest diameter. Eight lesions were found near the foramen of Monro and two in the body of the lateral ventricles. The tumors showed preferentially intermediate signal on T1 (70 percent), high signal on T2-weighted images (100 percent), with intense enhancement after contrast administration (100 percent). CONCLUSION: SGCA in patients with TS usually presents as a single lesion near the foramen of Monro, with intermediate signal on T1, high signal on T2-weighted images and intense contrast enhancement.

The lungs in tuberous sclerosis complex: a case report / Los pulmones en el complejo de esclerosis tuberosa: reporte de un caso

Tuberous sclerosis complex manifests predominantly as a neurocutaneous disorder Lung involvement was considered rare. Lymphangioleiomyomatosis which occurs mainly in women of childbearing age is the major pulmonary disorder seen in tuberous sclerosis. Multifocal micronodular pneumocyte hyperplasia has also been described in tuberous sclerosis. The case of a 51-year old female diagnosed with tuberous sclerosis is described after she presented with progressive shortness of breath and was found to have interstitial lung disease. Tuberous sclerosis should be considered as a differential in patients with interstitial lung disease especially in association with cutaneous lesions.

El complejo de esclerosis tuberosa se manifiesta predominantemente como un desorden neurocutáneo. El compromiso pulmonar era considerado raro. La linfangioleiomiomatosis que se presenta principalmente en mujeres en estado de gestación, es el principal trastorno observado en la esclerosis tuberosa. La hiperplasia micronodular pneumocítica ha sido también descrita en la esclerosis tuberosa. Se describe el caso de una mujer de 51 años a quien se le diagnosticó esclerosis tuberosa, luego de que se presentara con disnea y se hallara que padecía la enfermedad intersticial del pulmón. La esclerosis tuberosa deber ser considerada como un diagnóstico diferencial en pacientes con la enfermedad intersticial del pulmón, especialmente cuando se encuentra asociada con lesiones cutáneas.

El espectro morfológico del complejo esclerosis tuberosa: análisis de cuatro casos de autopsia / The morphological spectrum of the tuberous sclerosis complex: analysis of four necropsy cases

Se informan cuatro casos de esclerosis tuberosa. Los hallazgos post mortem más frecuentes fueron hamartomas subependimarios y angiofibromas faciales. También se encontraron astrocitomas subependimarios de células gigantes, rabdomiomas cardiacos múltiples, riñones poliquísticos, fibromas subungueales, manchas hipopigmentadas y angiomiolipomas renales. La presentación clínica y morfológica de la esclerosis tuberosa es variada y heterogénea y en esta breve serie se revisan los aspectos patológicos más importantes para su diagnóstico.

Esclerose tuberosa: relato de caso com estudo histopatológico e ultraestrutural / Tuberous sclerosis: case report with histopathological and ultrastructural study

O complexo esclerose tuberosa constitui grupo de desordens autossômicas dominantes caracterizadas por hamartomas e lesoes neoplásicas benignas que invariavelmente acometem o sistema nervoso central. Relatamos um caso de esclerose tuberosa que é o primeiro com descriçao dos achados ultraestruturais na literatura latino-americana. A paciente era feminina, tinha 2 anos de idade e apresentava síndrome de West nao responsiva ao tratamento clínico com vigabatrina, trileptal e clonazepan, sendo submetida a lobectomia frontal esquerda. Os achados histopatológicos e ultraestruturais foram condizentes com esclerose tuberosa. Estes resultados aproximam-se daqueles discutidos na literatura e auxiliam na eventual compreensao desta controversa facomatose, bem como alertam para a apresentaçao clínica como síndrome de West.

astrocytomes sous ependymaires a cellues geantes au cours de la sclerose tubereuse de Bourneville.Etude histologique et immunohistochimique de 2 cas

In this study, we report 2 cases of subependymal giant cell astrocytomas associated with a Bourneville tuberous sclerosis in 2 children These 2 cases are studied using morphological and immunohistochemical methods which contributes to the study of these particular tumors

Hemorragia maciça intratumoral em esclerose tuberosa: estudo autóptico de um caso / Massive intratumor hemorrhage in tuberous sclerosis: autopsy study of a case

O caso de um menino com esclerose tuberosa, apresentando o quadro clínico típico e que morreu com hemorragia intratumoral maciça, é estudado. A autópsia parcial de crânio revelou hemorragia cerebral maciça à esquerda, no interior da qual se identificou um tumor que, à microscopia, mostrou se tratar de astrocitoma subependimário de celulas gigantes. Este é o segundo caso, na literatura, no qual um paciente com esclerose tuberosa morre de hemorragia maciça intratumoral, com inundaçäo ventricular