Obstrucción colónica por pólipo hamartomatoso en una paciente pediátrica con esclerosis tuberosa / Bowel obstruction by hamartomatous polyp in a pediatric patient with tuberous sclerosis

La esclerosis tuberosa es una enfermedad autosómica dominante con gran variabilidad de expresión clínica. Se caracteriza por la presencia de tumores benignos en distintos órganos debidos a un desorden en la proliferación y diferenciación celular. Afecta, especialmente, la piel, el sistema nervioso central, el corazón y el riñón. El compromiso intestinal es infrecuente; afecta a adultos y compromete el colon sigmoide y el recto. En niños, hay solo dos casos descritos en la literatura; nuestra paciente sería el tercero. Presentamos a una paciente con esclerosis tuberosa, que comenzó, desde el mes de vida, con cuadros reiterados de suboclusión intestinal. La videocolonoscopía mostró una formación mamelonada que protruía hacia la luz del colon ascendente. Se realizó una hemicolectomía derecha. El informe anatomopatológico correspondió a un pólipo hamartomatoso. La evolución clínica y nutricional en el posquirúrgico fue muy favorable. Aunque poco frecuente, el pólipo hamartomatoso debe considerarse en el diagnóstico diferencial de oclusión intestinal en pediatría.

Tuberous sclerosis is an autosomal dominant disorder with a wide clinical spectrum of disease. It is characterized by development of benign tumors in multiple organs due to a disturbance in cellular growth and differentiation. It usually affects skin, brain, heart and kidney. Gastrointestinal involvement is rare and mainly restricted to adults and sigmoid colon and rectum. In children there are only two cases; our patient would be the third. We present a patient with tuberous sclerosis who began at the first month of life with repeated intestinal subocclusion. The videocolonoscopy showed a mass protruding into the lumen of the ascending colon. Right hemicolectomy was performed. The anatomopathological report corresponded to a hamartomatous polyp. The clinical and nutritional evolution in the postoperative period was very favorable. Although uncommon, the hamartomatous polyp should be considered in the differential diagnosis of intestinal occlusion in pediatrics.

Diagnóstico prenatal de rabdomioma fetal asociado a esclerosis tuberosa: a propósito de un caso / Prenatal diagnosis of fetal rhabdomyoma associated with tuberous sclerosis

Los rabdomiomas son los tumores benignos cardíacos más frecuentes encontrados en vida fetal y postnatal, asociándose frecuentemente a esclerosis tuberosa. A propósito de un caso manejado en nuestra maternidad el año 2014 se revisó la literatura existente sobre su diagnóstico, manejo, implicancias pronósticas. Se trata de una embarazada de 23 años que fue referida a las 25 semanas a nuestro servicio, el estudio ecográfico revela tres imágenes cardiacas concordantes con rabdomiomas en las paredes ventriculares y el septum. No se detectan otras anormalidades y se controla en forma seriada con ultrasonido. Se realiza a las 33 semanas resonancia nuclear magnética fetal con el objetivo de evidenciar signos de esclerosis tuberosa los cuales se evidencian en el examen y se confirman en exámenes postnatales. Se comenta el diagnóstico diferencial con otros neoplasias benignas cardiacas como teratomas, fibromas y hemangiomas. Las posibles complicaciones de los rabdomiomas dependerán de su ubicación y tamaño, produciendo alteraciones en flujo o bien menos frecuentemente arritmias. La asociación más importante de esta patología es con esclerosis tuberosa de manera que se debe realizar una cuidadosa anamnesis familiar, estudios de imágenes que deben abarcar el SNC, corazón y riñones. Finalmente en ese contexto realizar la mejor consejería a los padres.

Rhabdomyomas are the most common benign cardiac tumors found in fetal and postnatal life, frequently being associated with tuberous sclerosis. In relation to a case handled in our maternity unit in 2014, existing literature on cardiac rhabdomyomas diagnosis, management and prognostic implications, was revised. The case concerned a 25 week pregnant 23 year old patient, who was referred to our facility; ultrasound examination reveals three cardiac images consistent with rhabdomyomas in the ventricular walls and the septum. No other abnormalities are detected and the patient is monitored with a series of ultrasound. At 33 weeks a fetal magnetic resonance imaging is performed in order to show signs of tuberous sclerosis which are noted in the examination and confirmed in post natal tests. Differential diagnosis with other benign cardiac neoplasms such as teratomas, fibromas and hemangiomas is discussed. Possible complications of the rhabdomyomas will depend on its location and size, producing changes in flow or less frequent arrhythmias. The most important association of this pathology is with tuberous sclerosis, therefore the family medical history must be carefully evaluated, and imaging controls that should include the CNS, heart and kidneys. Finally in this context give the best counseling to the parents.

Tratamiento quirúrgico conservador en paciente monorrenal con esclerosis tuberosa y angiomiolipoma complicado: presentación de caso y revisión bibliográfica / Conservative surgical treatment in monorrenal patient with sclerosis and complicated tuberous angiomyolipom: case report and literature review

Los angiomiolipomas renales son formaciones renales que se presentan de forma aislada o asociadas con otras patologías como esclerosis tuberosa o enfermedad de Von Hippel Lindau. Los angiomiolipomas renales se pueden presentar clínicamente con un shock hipovolémico por lesión de uno de sus vasos o con dolor abdominal por efecto masa debido a su tamaño. La resolución de los angiomiolipomas puede ser de manera programada o de urgencia, siendo las vías elegidas la nefrectomía parcial o la embolización arterial selectiva, dependiendo siempre de los recursos que se tengan y la experiencia del equipo quirúrgico.

Renal angiomyolipomas are kidney formations presented in isolation or associated with other diseases such as tuberous sclerosis or Von Hippel Lindau disease. Renal angiomyolipoma may present clinically with hypovolemic shock due to injury of one of its vessels or with abdominal pain due to mass effect because of its size. Angiomyolipomas can be resolved on scheduled basis or emergency, where the chosen ways are partial nephrectomy or selective arterial embolization, always depending on the resources you count on and the experience of the surgical team.

Esclerosis tuberosa en el adulto: hallazgos en tomografía computada multicorte, presentación de un caso clínico y revisión de literatura / Tuberous sclerosis in adults: Multi slice computed tomography findings: case report and literature review

Tuberous sclerosis, also known as tuberous sclerosis complex, is an autosomal dominant, multisystemic, neurocutaneous disease characterized by a wide range of hamartomatous lesions involving the skin, brain, kidneys, heart, etc. In most cases, it is diagnosed in childhood. Diagnosis in adult patients is usually made by renal failure and lung or dermatologic alterations. We report the case of a 57-year-old female patient with mental retardation and flank pain. A literature review on imaging manifestations of this rare disease is also provided.

La esclerosis tuberosa también conocida como complejo esclerosis tuberosa es una enfermedad autosómica dominante, multisistémica, neurocutánea caracterizada por un amplio espectro de lesiones hamartomatosas que afectan la piel, cerebro, riñones, corazón, etc. La mayoría de las veces es diagnosticada en la niñez. El diagnóstico en pacientes adultos se realiza generalmente por falla renal y alteraciones pulmonares o dermatológicas. Presentamos el caso de una paciente de 57 años con discapacidad mental y dolor en ambos flancos, lo que acompañamos de una revisión de la literatura respecto de las manifestaciones imagenológicas de esta rara enfermedad.

Doenças pulmonares interticiais: linfangioliomiomatose em questão / Intertitial pulmonary diseases: lymphangioleiomyomatosis in question

As doenças pulmonares intersticiais (DPIs) são conceituadas como distúrbios que acometem o parênquima pulmonar - o endotélio cailar, os alvéolos, o epitélio alveolar e os espaços entreestas estruturas, bem como os tecidos perivasculares e linfáticos - , podendo ser classificadas segundo critérios histopatológicos, distinguindo-se dois grandes grupos: 1. das associadas à inflamação e fibrose; e 2. daquelas com reação granulomatosa predominante na área intersticial u vasculas. A linfangioliomiomatose (LAM) é uma rara DPI, idiópática, e com altas taxas de morbimortalidade, sendo caracterizada por uma multiplicação acelerada de células musculares lisas imaturas em qualquer estrutura pulmonar. No presente artigo apresentar-se-á uma revisão da literatura enfocando a etiopatogenia, a epidemiologia, o quadro clínico, o diagnóstico - procedimentos, critérios e diagnóstico diferencial - o tratamento e o prognóstico da LAM.

The interstitial pulmonary diseases (IPDs) are a range of disorders that affect the pulmonary parenchyma - the capillary endothelium, alveoli, alveolar epithelium and the spaces between thesestructures, as well as the perivascular and lymphatic tissues. The IPDs may be classified according to histopathologic criteria, and are divided into two large groups: 1. those associated with inflammation and fibrosis; and 2. those associated with granulomatous reactions predominantly in the interstitial or vascular area. Lymphangioleiomyomatosis (LAM) ia a rare, idiopathic IPD with high morbimortality rates, which is characterized by an accelerated multiplication of immature smooth muscle cellsin any pulmonary structure. In this article, we present a review of the literature onthe etiopathogenesis, epidemiology, clinical picture, diagnosis and differential diagnosos, treatment, and prognosis of this condition.

Arritmia cardíaca fetal como manifestação inicial de rabdomioma na esclerose tuberosa / Fetal cardiac arrhythmia as an initial indication of rhabdomyoma in tuberous sclerosis

Relata-se caso de esclerose tuberosa (ET) diagnosticada a partir de arritmia cardíaca fetal e múltiplos rabdomiomas cardíacos. A ET é doença autossômica dominante, multissistêmica, com incidência de 1:10000 nascimentos, caracterizada por múltiplos hamartomas em órgãos de origem mesodérmica e ectodérmica. O rabdomioma é o tumor primário do coração mais frequênte na infância, associando-se à ET em 50 por cento dos casos. Outras manifestações incluem epilepsia, retardo mental e alterações compressivas nos órgãos acometidos. A ET tem graves manifestações físicas e psicológicas, exigindo acompanhamento multidisciplinar. Objetiva-se propiciar o entendimento e o reconhecimento da doença, integrando os profissionais envolvidos no seu manejo.

Esclerose tuberosa: avaliação de miofibroblastos em angiofibromas cutâneos - relato de caso / Tuberous sclerosis: evaluation of myofibroblasts in cutaneous angiofibromas - case report

Esclerose tuberosa é uma condição rara e autossômica dominante. Miofibroblastos são células que exibem fenótipo híbrido entre fibroblastos e células musculares lisas. O objetivo deste caso clínico é mostrar as características clínicas e histopatológicas da esclerose tuberosa e avaliar miofibroblastos nos angiofibromas cutâneos dessa condição. Lesões removidas foram coradas em HE e tricrômico de Masson. Para determinar a presença de miofibroblastos foi usada imunoistoquímica para α-SMA. Essa reação mostrou-se negativa para miofibroblastos. Como α-SMA é um marcador específico para essas células, esse resultado sugere que miofibroblastos não estejam envolvidos com os angiofibromas da esclerose tuberosa descrita.

Tuberous sclerosis is a rare autosomal dominant disorder. Myofibroblasts are cells with a hybrid phenotype between fibroblasts and smooth muscle cells. The objective of this study is to describe clinical and histopathological characteristics of tuberous sclerosis and to conduct an immunohistochemical evaluation of myofibroblasts in cutaneous angiofibromas present in this condition. Lesion sections removed were stained with hematoxylin-eosin and Masson's trichrome. Immunohistochemistry against α-SMA was done to determine the presence of myofibroblasts, and the reaction was negative. Since α-SMA is a specific marker for myofibroblasts, this result suggests that myofibroblasts are not involved in cutaneous angiofibromas present in the tuberous sclerosis case reported.

Oral manifestations leading to the diagnosis of familial tuberous sclerosis.

Clinical manifestations of tuberous sclerosis (TS) are variable, and oral involvement occurs in less than 10% of the affected patients. We reported herein a nine-year-old boy with dental enamel pits and gingival nodular lesions, histologically diagnosed as angiofibromas that leaded to the diagnosis of a family with TS. In this report, we demonstrated the multiprofessional importance in the diagnosis of TS. Early diagnosis of TS is essential for an appropriate treatment of the affected patients and genetic counseling.

Angiomyolipoma of the kidney: the experience at the University Hospital of the West Indies / El angiomiolipoma del riñón: la experiencia del Hospital Universitario de West Indies

OBJECTIVE: Angiomyolipoma (AML) of the kidney is an uncommon tumour that, until recently, was often misdiagnosed preoperatively as renal cell carcinoma (RCC). Newer radiological techniques have allowed more accurate preoperative diagnosis which can facilitate preoperative counselling and planning for conservative therapy. This study reviews the experience with these uncommon tumours at the University Hospital of the West Indies. METHODS: All cases of AML diagnosed during the period 1980 to 2007 were retrospectively identified from the files of the Department of Pathology. From these records, selected data were retrieved and analysed. These included patient demographics, clinical history, clinical diagnosis and pathologic characteristics of the specimen submitted. The total number of primary renal tumours diagnosed in adults during the same period was also determined for comparison. RESULTS: Eleven cases of AML were identified among 149 primary renal tumours in adults. Ten of these cases occurred in women. Amongst these, a single case of tuberous sclerosis was confirmed in a patient with bilateral lesions. Excluding this patient, who was 24 years old, ages ranged from 24 to 86 years with a mean of 44 years (median 40.5 years) and an equal number of lesions was present on each side. Abdominal or flank pain were the most common clinical symptoms, present in six cases but in three cases, the tumours were discovered incidentally. The correct clinical diagnosis was made pre-operatively in a single case. By contrast, a diagnosis of RCC or other malignant tumour was proffered in eight cases. Pathologically, the maximum dimension of the seven excised tumours, in whom such information was recorded, ranged from 3.5 cm to 12 cm with a median of 7 cm. Spontaneous haemorrhage in the tumour was noted in three cases, all greater than 4.5 cm in maximum dimension. CONCLUSIONS: These data confirm that AML is uncommon at the University Hospital of the West Indies. There was an overwhelming female preponderance and patients presented, most commonly, in the 3rd to 4th decades. Tuberous sclerosis was identified in a solitary case. In this series, symptomatic lesions were > 4.5 cm in maximum dimension and haemorrhage complicated three cases. Most cases were incorrectly diagnosed preoperatively.

OBJETIVO: El angiomiolipoma (AML) del riñón es un tumor poco común que hasta hace poco era a menudo mal diagnosticado preoperatoriamente como carcinoma celular renal (RCC). Técnicas radiológicas más nuevas han permitido realizar un diagnóstico preoperatorio más exacto, que puede facilitar aconsejamiento preoperatorio y planificar una terapia conservadora. El presente estudio examina la experiencia con estos tumores poco comunes en el Hospital Universitario de West Indies. MÉTODOS: Todos los casos de AML diagnosticados durante el periodo de 1980 a 2007 fueron identificados retrospectivamente a partir de los archivos del Departamento de Patologías. De estos archivos, se seleccionaron datos que fueron recuperados y analizados. Estos abarcaron: la demografía de los pacientes, las historias clínicas, el diagnóstico clínico y las características patológicas del espécimen presentado. El número total de tumores renales primarios diagnosticados en adultos durante el mismo período, se determinó también por comparación. RESULTADOS: Se identificaron once casos de AML entre 149 tumores renales primarios en adultos. Diez de estos casos ocurrieron en mujeres. Entre éstas, se confirmó sólo un caso de esclerosis tuberosa, en un paciente con lesiones bilaterales. Excluyendo a este paciente, que tenía 24 años de edad, las edades fluctuaron de 24 a 86 años para una media de 44 años (mediana 40.5) y un número igual de lesiones estuvieron presentes en cada lado. El dolor abdominal o el lateral, constituyeron los síntomas clínicos más comunes, presentes en seis casos, pero en tres casos, los tumores fueron descubiertos incidentalmente. El diagnóstico clínico correcto se realizó preoperatoriamente en un solo caso. En contraste con ello, un diagnóstico de RCC u otro tumor maligno se presentó en ocho casos. Patológicamente, la máxima dimensión de los siete tumores extirpados, en los cuales se registró tal información fue registrada, fluctuó de 3.5 a 12 cm con una mediana de 7 cm. La hemorragia espontánea en el tumor fue observada en tres casos, todos mayores de 4.5 cm. de tamaño máximo. CONCLUSIONES: Estos datos confiman que la AML es poco común en el Hospital Universitario de West Indies. Hubo una abrumadora preponderancia de casos femeninos, y los pacientes se presentaron con mayor frecuencia en las décadas 3era y 4ta. La esclerosis tuberosa se identificó sólo en un caso. En esta serie, las lesiones sintomáticas tuvieron > 4.5 cm. de dimensión máxima, y la hemorragia complicó tres casos. La mayoría de los casos fueron diagnosticados incorrectamente en la etapa preoperatorio.

Manifestaciones renales en niños con esclerosis tuberosa / Renal manifestations of tuberous sclerosis in children

Introducción. La esclerosis tuberosa es un trastorno neurocutáneo caracterizado por el desarrollo de hamartomas en múltiples órganos. El compromiso renal es frecuente y constituye la segunda causa de morbimortalidad en estos pacientes. Objetivos. Describir la prevalencia, tipo y evolución a largo plazo de la patología renal en niños con esclerosis tuberosa. Pacientes y métodos. Estudiamos retrospectivamente la presencia de patología renal en 38 niños atendidos entre los años 1989 y 2008 que cumplían con los criterios clínicos de esclerosis tuberosa. Resultados. La edad de los pacientes (mediana) fue de 10 años, con un tiempo de seguimiento (mediana) de 6,7 años. El 44,7 por ciento (17 pacientes, 11 mujeres) presentó lesiones renales que fueron diagnosticadas en 13 por pesquisa ecográfica, en 2 por masa palpable y en otros 2 por hipertensión arterial. La ecografía inicial fue patológica en 7 niños (18,4 por ciento) y durante el seguimiento otros 10 pacientes (26,3 por ciento) desarrollaron lesiones. Se hallaron: angiomiolipomas múltiples en el 18,4 por ciento, quistes en el 18,4 por ciento y asociación de angiomiolipomas con quistes en el 7,9 por ciento. Los quistesse diagnosticaron a una mediana de edad de 3,1 años y los angiomiolipomas a los 10,7 años. Dos niños presentaron quistes de gran tamaño sintomáticos que requirieron procedimientos invasivos; 5 proteinuria y 3 hipertensión arterial. Ningún paciente presentó carcinoma renal ni insuficiencia renal. Conclusiones. Nuestros hallazgos confirman una alta tasa de compromiso renal en niños con esclerosis tuberosa, por lo que enfatizamos la importancia del diagnóstico y seguimiento de estas lesiones para disminuir la morbilidad de esta patología.

Introduction. Tuberous sclerosis is a neurocutaneous disorder characterized by the growth of hamartomas in multiple organs. Renal involvement is frequent and is the second cause of morbidity and mortality in these patients. Objectives. To describe de prevalence, type and long-term outcome of renal involvement in children with tuberous sclerosis. Patients and methods. We retrospectively reviewed clinical notes and renal ultrasounds of 38 children followed between 1989 and 2008 who met diagnostic criteria for tuberous sclerosis. Results. Median patient age was 10 years and median follow-up was 6.7 years; 44.7 percent (17 patients, 11 females) showed renal manifestations diagnosed by ultrasound screening in 13, in 2 by palpable mass and in another 2 by hypertension. On initial evaluation, renal ultrasound was abnormal in 7 children (18.4 percent); during follow-up another 10 patients (26.3 percent) developed renal lesions. Renal involvement included: multiple angiomyolipomas in 18.4 percent, cysts in 18.4 percent and angiomyolipomas plus cysts in 7.9 percent. Renal cysts were detected at a median age of 3.1 years and angiomyolipomas at 10.7 years. Two patients have required invasive procedures due to symptomaticlarge cysts, 5 developed proteinuria and 3 arterial hypertension. None presented renal carcinoma neither evolved to chronic renal failure. Conclusions. Our findings confirm a high rate of renal involvement in children with tuberous sclerosis, thus we emphasize periodic renal surveillance of these patients in order to diminish the morbidity of this disease.

Tuberous sclerosis--a multi system disease.

Tuberous sclerosis is a genetic disease with autosomal dominant inheritance, associated with hamartomas in several organs and various skin findings. A case of a ten year old boy is presented here to highlight the multisystem involvement in tuberous sclerosis. The child had seizures, facial papular naevi and peri-ungual fibromas. MRI revealed cortical tubers, white matter lesions and subependymal nodules. Orbital ultrasound showed retinal hamartoma on the left side. Ultrasound of the abdomen revealed a soft tissue mass at the upper pole of left kidney with a small cyst in right kidney.

Tuberous sclerosis with portal vein thrombosis, protein C and S deficiency.

A 29-year-old lady with a bad obstetric history and portal vein thrombosis, presented to the Skin OPD for facial lesions. On examination, angiofibromas on face, shagreen patch and periungual fibromas were observed. She also had dental pits and a retinal hamartoma. Investigations revealed hamartomas in the brain and kidney. Hematological work-up showed protein C and S deficiency with Factor V Leiden positivity. Except for the cutaneous symptoms, the patient did not have any clinical manifestations in other organs affected by tuberous sclerosis. A similar association of tuberous sclerosis with protein C deficiency has been reported in only one case in literature.

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.

Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito.

Tuberous sclerosis complex (TSC) and hypomelanosis of Ito (HI) are two uncommon neurocutaneous syndromes and their coexistence is extremely rare. An epileptic child presented with progressively increasing multiple hypopigmented macules arranged in a linear and whorled pattern along the lines of Blaschko over the trunk and limbs, characteristic of HI. He also had facial angiofibromas, ash-leaf and confetti macules and shagreen patches. Magnetic resonance imaging of the brain showed cortical tubers and subependymal nodules; which are diagnostic of TSC. The TSC defining loci have been mapped to Chromosome 9q34 (TSC1) and 16 pl3.3 (TSC2). There is no common genetic background for HI, but mosaicism of 9q33 locus has been documented. As per our knowledge, this is the second case of association of TSC with HI in a four-year-old child.