Tumores corticosuprarrenales pediátricos: imagen de adenomas y carcinomas / Adrenocortical tumors in children: imaging adenomas and carcinomas

Objetivo. El propósito de la revisión es mostrar las características de imagen que presentan los tumores corticosuprarrenales pediátricos (TCSP). Material y métodos. Se realiza una revisión retrospectiva de los pacientes diagnosticados de TCSP en nuestro hospital terciario en el periodo comprendido entre los años 2000 y 2010, desde el punto de vista radiológico y anatomopatológico. Se estudian las características radiológicas mediante ecografía, tomografía computarizada (TC) y resonancia magnética (RM), que ayudarán a orientar la lesión hacia benignidad o malignidad, y el seguimiento de imagen. Resultados Se presentan 8 TCSP: 5 carcinomas, 2 adenomas y un tumor borderline; se clasifican 2 en estadio I, uno en estadio II, 3 en estadio III y 2 en estadio IV. La radiología permitió el diagnóstico de carcinoma en estadio IV en 2 casos, dada la presencia de metástasis iniciales en un paciente y el gran tamaño y desestructuración tumoral en otro, desarrollando posteriormente metástasis. En los otros 6 casos el diagnóstico radiológico fue de aproximación respecto a su naturaleza de carcinoma o adenoma. Conclusiones. Los TCSP son raros en la infancia. Engloban las entidades de adenoma y carcinoma, siendo difíciles de diferenciar histológica y radiológicamente en ausencia de infiltración vascular y/o metástasis. En un paciente en edad pediátrica la combinación de una masa suprarrenal y signos clínicos de hiperfunción corticosuprarrenal es virtualmente diagnóstica de TCSP (AU)

Objective. This article aims to show the imaging characteristics of pediatric adrenocortical tumors. Material and methods. We review the imaging and histological findings in patients diagnosed with pediatric adrenocortical tumors at our tertiary hospital between 2000 and 2010. We analyze the findings at ultrasonography, computed tomography, and magnetic resonance imaging that can help orient the diagnosis toward benign or malignant lesions and guide imaging follow-up. Outcome. We found 8 adrenocortical tumors in children: 5 carcinomas, 2 adenomas, and 1 borderline tumor. Two tumors were classified as stage I, 1 as stage II, 3 as stage III, and 2 as stage IV. Imaging enabled the diagnosis of stage IV carcinoma in 2 cases, due to the presence of initial metastases in one patient and to size of the tumor and structural changes in the other, who later developed metastases. In the other 6 cases, the imaging studies oriented the diagnosis toward carcinoma or adenoma. Conclusions. Adrenocortical tumors are rare in children. Adrenocortical tumors include adenomas and carcinomas, and in the absence of vascular infiltration and/or metastases it is difficult to differentiate between the two types by imaging and histology. The combination of an adrenal mass and clinical signs of adrenocortical hyperfunction in a child is virtually diagnostic of an adrenocortical tumor (AU)

Resonancia magnética en el ependimoma anaplásico infratentorial pediátrico / Magnetic resonance imaging of infratentorial anaplastic ependymoma in children

Objetivo. El objetivo es mostrar las principales características radiológicas que el ependimoma anaplásico puede presentar en las imágenes de resonancia magnética (RM). Material y métodos. Se recogen los pacientes diagnosticados de ependimoma infratentorial de tipo anaplásico en los últimos 6 años en nuestro hospital terciario. Se estudian las características de imagen mediante RM (secuencias convencionales protocolizadas para estudio tumoral del SNC, difusión, estudio con contraste, espectroscopia) de este tipo tumoral. Resultados. El estudio de nuestra serie de 7 pacientes pediátricos con ependimoma anaplásico infratentorial no mostró características definitivas que ayudaran en la distinción entre grado II y grado III previamente al diagnóstico anatomopatológico, al no haber presentado ninguno de ellos diseminación al líquido cefalorraquídeo (LCR) en el momento del diagnóstico ni aumento de la restricción tumoral en la secuencia de difusión. Conclusiones. Las características radiológicas no son definitivas para distinguir entre los ependimomas grado II y los ependimomas anaplásicos grado III. Únicamente algunos detalles sobre la difusión y la mayor propensión a la diseminación al LCR, si se presentan, pueden diferenciarlos desde el punto de vista de la imagen (AU)

Objective. To show the main findings for anaplastic ependymoma on MRI. Material and methods. We reviewed all patients diagnosed with anaplastic ependymoma at our tertiary hospital during a six-year period. We recorded the MRI findings for this type of tumor (on conventional sequences following the protocol for the study of CNS tumors, diffusion-weighted imaging, contrast-enhanced sequences, and MR spectroscopy). Results. Our series comprises seven children with infratentorial anaplastic ependymoma. We found no definitive characteristics to distinguish between grade II and grade III tumors before histology, as none of the lesions had spread to the cerebrospinal fluid at diagnosis or showed increased restriction in the diffusion-weighted sequence. Conclusions. The MRI characteristics cannot definitively distinguish between grade II ependymomas and anaplastic grade III ependymomas. Only a few details about diffusion and dissemination to the cerebrospinal fluid, if present, can distinguish between these types at imaging (AU)

[Magnetic resonance imaging of infratentorial anaplastic ependymoma in children]. / Resonancia magnética en el ependimoma anaplásico infratentorial pediátrico.

OBJECTIVE: To show the main findings for anaplastic ependymoma on MRI. MATERIAL AND METHODS: We reviewed all patients diagnosed with anaplastic ependymoma at our tertiary hospital during a six-year period. We recorded the MRI findings for this type of tumor (on conventional sequences following the protocol for the study of CNS tumors, diffusion-weighted imaging, contrast-enhanced sequences, and MR spectroscopy). RESULTS: Our series comprises seven children with infratentorial anaplastic ependymoma. We found no definitive characteristics to distinguish between grade II and grade III tumors before histology, as none of the lesions had spread to the cerebrospinal fluid at diagnosis or showed increased restriction in the diffusion-weighted sequence. CONCLUSIONS: The MRI characteristics cannot definitively distinguish between grade II ependymomas and anaplastic grade III ependymomas. Only a few details about diffusion and dissemination to the cerebrospinal fluid, if present, can distinguish between these types at imaging.

[Adrenocortical tumors in children: imaging adenomas and carcinomas]. / Tumores corticosuprarrenales pediátricos: imagen de adenomas y carcinomas.

OBJECTIVE: This article aims to show the imaging characteristics of pediatric adrenocortical tumors. MATERIAL AND METHODS: We review the imaging and histological findings in patients diagnosed with pediatric adrenocortical tumors at our tertiary hospital between 2000 and 2010. We analyze the findings at ultrasonography, computed tomography, and magnetic resonance imaging that can help orient the diagnosis toward benign or malignant lesions and guide imaging follow-up. OUTCOME: We found 8 adrenocortical tumors in children: 5 carcinomas, 2 adenomas, and 1 borderline tumor. Two tumors were classified as stage I, 1 as stage II, 3 as stage III, and 2 as stage IV. Imaging enabled the diagnosis of stage IV carcinoma in 2 cases, due to the presence of initial metastases in one patient and to size of the tumor and structural changes in the other, who later developed metastases. In the other 6 cases, the imaging studies oriented the diagnosis toward carcinoma or adenoma. CONCLUSIONS: Adrenocortical tumors are rare in children. Adrenocortical tumors include adenomas and carcinomas, and in the absence of vascular infiltration and/or metastases it is difficult to differentiate between the two types by imaging and histology. The combination of an adrenal mass and clinical signs of adrenocortical hyperfunction in a child is virtually diagnostic of an adrenocortical tumor.

Predicción de lesión histológica intestinal en pacientes pediátricos con enfermedad celíaca / Prediction of intestinal histological lesions in paediatric patients with coeliac disease

Introducción: Los marcadores séricos son de gran utilidad como indicadores de enfermedad celíaca (EC), si bien la biopsia intestinal sigue siendo el patrón oro para establecer el diagnóstico. La positividad de los anticuerpos antitransglutaminasa tisular humana de clase IgA (AATGt-IgA) y los anticuerpos antiendomisio IgA (AAE-IgA) se correlaciona con histología intestinal patológica. La atrofia vellositaria (Marsh 3) representa una característica fundamental para el diagnóstico de EC. El tipo correspondiente a Marsh 2 (hiperplasia críptica) es debatido como lesión propia de la EC. Objetivo: Comprobar el nivel de AATGt-IgA que corresponda a un valor predictivo positivo (VPP) de lesión histológica de 100% para el diagnóstico de EC. Material y métodos: Serie de 120 pacientes menores de 14 años sin déficit de IgA sometidos a biopsia intestinal con serología positiva tanto a AATGt-IgA como AAE-IgA. Para los AATGt- IgA según recomendación del fabricante se consideran valores positivos cifras ≥ 16 U/ml. Se establece el VPP de AATGt-IgA a diferentes puntos de corte. Resultados: La distribución de los hallazgos histológicos en relación con el punto de corte de AATGt-IgA pone de manifiesto el mayor número de lesiones patológicas a medida que aumenta los valores de AATGt-IgA. Con valores del punto de corte por encima de 7,5-10,6 se corresponde con Marsh 2 2,1% y Marsh 3 93,4%; por encima de 10,6 veces el punto de corte, todas las biopsias se catalogan como Marsh 3 (100%). El VPP considerando solo las lesiones Marsh 3 alcanza bajo valor (55%) con serología positiva a AATGt-IgA con valores comprendidos entre 16 y 67 U/ml (1 a 4,2 x punto de corte), y elevado valor (92%) para las concentraciones entre 68 y 118 U/ml (4,3 a 7,4 x punto de corte), y para los casos con 69-170 U/ml (7,5 a 10,6 x punto de corte) (93%). Por encima de 170 U/ml (> 10,6 x punto de corte) el VPP es 100%. Conclusiones: El uso de valores superiores al punto de corte recomendado lógicamente debe mejorar aún más la especificidad del test y su VPP. En el 31,6% de los pacientes con positividad para AATGt-IgA y AAE-IgA (38/120) hubiera sido posible diagnosticar la enfermedad sin biopsia intestinal al contar con VPP de 100%. Como existen diversos kits comerciales con distintos puntos de corte, no es posible la estandarización de los resultados, por lo que hay que ser muy cautos para establecer recomendaciones basadas en los valores de AATGt-IgA (AU)

Introduction: Serological markers are of great interest in coeliac disease (CD), although intestinal biopsy is still the gold standard for establishing the diagnosis. Tissue transglutaminase IgA antibodies (AATGt-IgA) and antiendomysial antibodies IgA (AAE-IgA) are closely correlated to intestinal damage observed in biopsies. Villous atrophy (Marsh 3) plays a major role in CD diagnosis. Marsh 2 stage (crypt hyperplasia) as a CD marker is still under debate. Objective: To ascertain an AATGt-IgA level that corresponds to a positive predictive value (PPV) of 100% for a histological CD diagnosis. Material and methods: A series of 120 patients younger than 14 years, non- IgA deficient, whounderwent an intestinal biopsy and were positive for both serological markers (AATGt-IgA andAAE-IgA). For AATGt-IgA, according to the manufacturer’s recommendations, a value greaterthan 16 IU/mL is considered as a positive value. The PPV of AATGt was determined for different cut-off points. Results: The histological findings distribution is directly correlated to the AATGt-IgA cut-off point. When the cut-off point is set above 7.5-10.6 times the commercial reference value, there is a 2.1% of Marsh 2 lessions and 93.4% of Marsh 3; above 10.6 times the reference value, all biopsies where Marsh 3 (100%). The PPV that considers Marsh 3 is (93.4%). The PPV, for considering Marsh 3 is low (55%) when AATGt-IgA serology is positive with levels between 16and 67 IU/ml (1-4.2 times the cut-off point) and a higher value (92%) for concentrations between68 and 118 IU/ml (4.3-7.4 times) and for cases with 69-170 IU/ml (7.5-10.6 times); above 170IU/ml (>10.6 times) PPV is 100% (AU)

[Prediction of intestinal histological lesions in paediatric patients with coeliac disease]. / Predicción de lesión histológica intestinal en pacientes pediátricos con enfermedad celíaca.

INTRODUCTION: Serological markers are of great interest in coeliac disease (CD), although intestinal biopsy is still the gold standard for establishing the diagnosis. Tissue transglutaminase IgA antibodies (AATGt-IgA) and antiendomysial antibodies IgA (AAE-IgA) are closely correlated to intestinal damage observed in biopsies. Villous atrophy (Marsh 3) plays a major role in CD diagnosis. Marsh 2 stage (crypt hyperplasia) as a CD marker is still under debate. OBJECTIVE: To ascertain an AATGt-IgA level that corresponds to a positive predictive value (PPV) of 100% for a histological CD diagnosis. MATERIAL AND METHODS: A series of 120 patients younger than 14 years, non- IgA deficient, who underwent an intestinal biopsy and were positive for both serological markers (AATGt-IgA and AAE-IgA). For AATGt-IgA, according to the manufacturer's recommendations, a value greater than 16 IU/mL is considered as a positive value. The PPV of AATGt was determined for different cut-off points. RESULTS: The histological findings distribution is directly correlated to the AATGt-IgA cut-off point. When the cut-off point is set above 7.5-10.6 times the commercial reference value, there is a 2.1% of Marsh 2 lessions and 93.4% of Marsh 3; above 10.6 times the reference value, all biopsies where Marsh 3 (100%). The PPV that considers Marsh 3 is (93.4%). The PPV, for considering Marsh 3 is low (55%) when AATGt-IgA serology is positive with levels between 16 and 67 IU/ml (1-4.2 times the cut-off point) and a higher value (92%) for concentrations between 68 and 118 IU/ml (4.3-7.4 times) and for cases with 69-170 IU/ml (7.5-10.6 times); above 170 IU/ml (>10.6 times) PPV is 100%. CONCLUSION: The use of values higher than the recommended cut-off point must logically improve specificity and PPV. In 31.6% patients positive for AATGt-IgA and AAE-IgA (38/120) it would have been possible to diagnose the disease without intestinal biopsy as of the PPV was 100%. It is not possible to standardise results as there are different commercial kits with variable cut-off points, so we must be cautious when setting recommendations based on AATGt-IgA.

[Pilomyxoid astrocytoma. Three cases and review]. / Astrocitomas pilomixoides. Presentación de tres casos y revisión de la literatura.

INTRODUCTION: Pilomyxoid astrocytoma (PMA) is a central nervous system (CNS) tumour with peculiar clinicopathological features, that turn it into an entity different from pilocytic astrocytoma (PA). It appears in 2007 WHO classification of tumours of the CNS as an PA subtype belonging to the group of astrocytic tumours. Nowadays little is still known about this tumour entity; the histological origin and clinical behavior remain controversial, and there is no consensus about its management. OBJECTIVE: To review the scientific literature related to the topic and to present three cases treated at our service. CONCLUSIONS: PMA is an histological entity related to PA with a greater trend to regrowth and cerebrospinal fluid dissemination, therefore strict follow-up and oncological treatment is recommended.

Astrocitomas pilomixoides. Presentación de tres casos y revisión de la literatura / Pilomyxoid astrocytoma. Three cases and review

Introducción. El astrocitoma pilomixoide (APM) esun tumor del sistema nervioso central (SNC) con característicasclínicas y anatomopatológicas propias que loconvierten en una entidad diferente del astrocitomapilocítico (AP). Este tumor aparece en la clasificaciónde tumores del SNC de la OMS en su cuarta edición(año 2007) como subtipo de AP dentro del grupo delos tumores de origen astrocitario. Actualmente siguesiendo una entidad tumoral poco conocida, existiendocontroversia sobre su origen histológico y su comportamientoclínico, y una falta de consenso en cuanto a sumanejo terapéutico.Objetivo. Revisar la literatura científica relacionadacon el tema y presentar tres casos valorados en nuestroservicio.Conclusiones. El APM es una entidad anatomopatológicarelacionada con el AP aunque con una mayortendencia a la recidiva y diseminación por el líquidocefalorraquídeo, por lo que se recomienda seguimientoestricto y tratamiento oncológico adyuvante (AU)

Introduction. Pilomyxoid astrocytoma (PMA) is acentral nervous system (CNS) tumour with peculiarclinicopathological features, that turn it into an entitydifferent from pilocytic astrocytoma (PA). It appearsin 2007 WHO classification of tumours of the CNSas an PA subtype belonging to the group of astrocytictumours. Nowadays little is still known about thistumour entity; the histological origin and clinical behaviorremain controversial, and there is no consensusabout its management.Objective. To review the scientific literature relatedto the topic and to present three cases treated at ourservice.Conclusions. PMA is an histological entity related toPA with a greater trend to regrowth and cerebrospinalfluid dissemination, therefore strict follow-up and oncologicaltreatment is recommended (AU)

Papiloma y carcinoma de plexos coroideos en la edad pediátrica / Papilloma and carcinoma of the choroid plexus in pediatric patients

Los papilomas de plexos coroideos son tumores infrecuentes de origen neuroectodérmico, que representan menos del 5% del total de los tumores del sistema nervioso central (SNC) en Pediatría; los carcinomas son aún más raros.Se revisa la incidencia de estas neoplasias en nuestro hospital de referencia, encontrando 6 tumores de plexos coroideos en cinco pacientes, 5 papilomas y un carcinoma de plexos coroideos. La edad incluye desde un diagnóstico prenatal hasta los 25 meses. A cuatro pacientes perinatales se les practicó ecografía, en cuatro se efectuó resonanciamagnética (RM), en todos ellos tomografía computarizada (TC) y en uno antiguo angiografía. Todos los tumores se localizan en ventrículos laterales, y un segundo tumor en un mismo paciente se sitúa en el tercer ventrículo. Son masas predominantemente sólidas, intraventriculares,con bordes polilobulados y bien definidos, presentan intensa vascularización en estudio doppler, mostrada como marcado realce con contraste en TC y RM. En tres casos existía hidrocefalia al diagnóstico. Se practicó cirugía en todos los pacientes, siendo efectiva la resección radical en los 5 papilomas; en el carcinoma la resección fue parcial y está en curso de quimioterapia. La evolución es buena, con seguimiento libre de enfermedad en un intervalo mínimo de 7 meses y máximo de 11 años en tres papilomas; permanece en seguimiento con buena evolución el papiloma múltiple y con mal pronóstico el carcinoma de los plexos coroideos (AU)

Papillomas of the choroid plexus are rare tumors of neuroectodermal origin; they represent less than 5% of all central nervous system (CNS) tumors in pediatric patients. Choroid plexus carcinomas are even rarer.We reviewed the incidence of these neoplasms at our reference hospital and found six tumors of the choroid plexus (five papillomas and one carcinoma) in five patients. Patient age ranged from prenatal to 25 months. All five patients underwent computed tomography (CT) examination. Four perinatal patients underwent ultrasound examination, four magnetic resonance imaging (MRI), and one (years ago) angiography. All patients had tumors located in the lateral ventricles, and one patient had a second tumor located in the third ventricle. These tumors are predominantly solid, intraventricular, with well-defined polylobulated margins. They show intense vascularization on Doppler studies and marked contrast enhancement on CT and MRI studies. Hydrocephalus was present in three cases. All patients underwent surgery; total resection was achieved in the five papillomas, whereas the carcinoma was partially resected and the patient is currently undergoing chemotherapy. The three patients with a single papilloma are disease free at follow-up (range 7 months to 11 years). The patient with two papillomas shows good recovery at follow-up, whereas the patient with carcinoma of the choroid plexus has a poor prognosis (AU)

[Papilloma and carcinoma of the choroid plexus in pediatric patients]. / Papiloma y carcinoma de plexos coroideos en la edad pediátrica.

Papillomas of the choroid plexus are rare tumors of neuroectodermal origin; they represent less than 5% of all central nervous system (CNS) tumors in pediatric patients. Choroid plexus carcinomas are even rarer. We reviewed the incidence of these neoplasms at our reference hospital and found six tumors of the choroid plexus (five papillomas and one carcinoma) in five patients. Patient age ranged from prenatal to 25 months. All five patients underwent computed tomography (CT) examination. Four perinatal patients underwent ultrasound examination, four magnetic resonance imaging (MRI), and one (years ago) angiography. All patients had tumors located in the lateral ventricles, and one patient had a second tumor located in the third ventricle. These tumors are predominantly solid, intraventricular, with well-defined polylobulated margins. They show intense vascularization on Doppler studies and marked contrast enhancement on CT and MRI studies. Hydrocephalus was present in three cases. All patients underwent surgery; total resection was achieved in the five papillomas, whereas the carcinoma was partially resected and the patient is currently undergoing chemotherapy. The three patients with a single papilloma are disease free at follow-up (range 7 months to 11 years). The patient with two papillomas shows good recovery at follow-up, whereas the patient with carcinoma of the choroid plexus has a poor prognosis.

Listeriosis en gestante con muerte fetal intraútero / Maternal listeriosis with intrauterine fetal death

La listeriosis es una enfermedad poco frecuente que afecta principalmente a inmunodeprimidos, embarazadas y neonatos, pudiendo tener graves consecuencias para estos últimos. Presentamos el caso de una mujer en su segundo embarazo en la semana 25 que ingresó en nuestra unidad por un cuadro infeccioso de 10 días de evolución, aislándose en el hemocultivo Listeria monocytogenes. A pesar de iniciarse un tratamiento antibiótico adecuado, el feto falleció. La posibilidad de infección por Listeria debe tenerse siempre presente en el diagnóstico diferencial de gestantes que presentan un cuadro pseudogripal inespecífico, forma más común de presentación de la listeriosis en la embarazada. El inicio de una antibioticoterapia precoz es fundamental para la viabilidad fetal (AU)

[Nijmegen breakage syndrome associated with pulmonary lymphoma]. / Linfoma pulmonar asociado a síndrome de Nijmegen.

Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, "bird-like" facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of chromosome instability due to anomalies in the repair of double-stranded DNA breaks.We present a 6-year-old boy with Nijmegen breakage syndrome, who developed a large B-cell non-Hodgkin's lymphoma, localized in the lung without nodal involvement.

Hematuria recurrente / Recurrent hematuria

No disponible

Tumores serosos ováricos no invasores con patrón microcapilar / Noninvasive ovarian serous tumors with a micropapillary pattern

Escanear (AU)

Leiomyomatous nodules and bundles of vascular origin in the fibrosarcomatous variant of dermatofibrosarcoma protuberans.

We report 5 cases of the fibrosarcomatous variant of dermatofibrosarcoma protuberans, 4 of which presented a morphologic change of intraneoplastic blood vessels not previously recognized. This change consisted of focal proliferation of smooth muscle cells, resulting in hypertrophy, generally eccentric, of vascular walls with reduction and collapsing of vascular lumina. In 3 cases the proliferation was so intense it formed leiomyomatous nodules and bundles. This proliferation may originate in the smooth muscle cells of the vessel walls either by means of a hyperplastic mechanism or in the pericytes via a line of differentiation leading to mature smooth muscle cells. In either case, we believe that it concerns a reactive process of the vessel walls very probably induced by adjacent neoplastic cells. The cases recently reported by Calonje and Fletcher as "myoid differentiation" of neoplastic cells in dermatofibrosarcoma protuberans (DFSP) may well be an expression of the same phenomenon, and therefore the presence of leiomyomatous areas in this tumor should not be used to support the theory of a fibroblastic/myofibroblastic line of differentiation for DFSP.

[Massive tumorous pulmonary embolism in hepatocarcinoma]. / Embolismo pulmonar masivo tumoral por hepatocarcinoma.

Tumoral pulmonary embolism is among the causes of acute dyspnea in patients with neoplasia. This phenomenon, different to thrombotic embolism, occurs frequently in patients with lung, gastrointestinal, liver, breast and uterus neoplasia. It is usually asymptomatic and usually constitutes an autopsy finding in these patients. More rarely it manifests as a cor pulmonale which evolves subacutely. Exceptionally large tumoral emboli spread from a primary tumoral mass, and obstruct main pulmonary arterial vessels, causing a clinical picture indistinguishable from massive pulmonary thromboembolism. We present case of massive tumoral pulmonary embolism by an hepatocarcinoma. In spite of an early thrombolytic treatment the patient died from acute pulmonary hypertension.

[Unilateral neonatal cystic disease of the kidney as first manifestation of tuberous sclerosis]. / Enfermedad quística renal neonatal unilateral como primera manifestación de esclerosis tuberosa.

OBJECTIVE: To report a case of unilateral cystic disease in a neonatal kidney as the first manifestation of tuberous sclerosis, with special reference to the diagnostic difficulties. METHODS: The pathological and clinical features of unilateral cystic kidney disease, which was basically segmental, are described. This condition had been detected in a newborn at physical examination. RESULTS: The pathological findings of the kidney cysts were characteristic of tuberous sclerosis, which allowed us to rule out a renal tumor. The clinical course confirmed the histological diagnosis. CONCLUSIONS: The reported cases of bilateral cystic kidney disease as the first manifestation of tuberous sclerosis are few and only one case with unilateral involvement has been reported in the English literature. In the case described herein, biopsy proved to be very useful in the diagnosis of the disease since the kidney cysts had specific histological features.