Large chondroma of the dural convexity in a patient with Noonan's syndrome. Case report and review of the literature.

INTRODUCTION: Intracranial chondromas are extremely rare intracranial tumours that usually arise from the skull base synchondrosis. Exceptionally, they may grow from cartilage rests within the dura mater of the convexity or the falx. They may be part of Ollier's multiple enchondromatosis or Maffuci's syndrome. We describe the case of a young male diagnosed of Noonan's syndrome that underwent resection of a large intracranial chondroma arising from the dural convexity. To our best knowledge this is the first report of such association. CASE REPORT: An 18-year-old male presented with a single generalized seizure. The patient was previously diagnosed of Noonan's syndrome on the basis of his special phenotype (Turner-like), low stature, cardiac malformation, retarded sexual and bone development and normal karyotype. He harboured mild psychomotor retardation. Physical and neurological examinations were unremarkable. Brain Magnetic Resonance image showed a large well-circumscribed intracranial mass in the dural convexity of the left frontal-parietal lobes, with heterogeneous contrast enhancement and no peritumoural oedema. The patient was initiated on valproic acid and underwent craniotomy and complete excision of the tumour. The tumour was firm, white-greyish, avascular and could be finely dissected away from the cortex. Postoperative seizures required additional anticonvulsant therapy. He was discharged uneventfully. The pathological study revealed a mature chondroma. Subsequent brain MRI studies have shown no evidence of recurrence after 33 months of follow up. DISCUSSION: Chondromas comprise less than 0.3% of intracranial tumours. Only twenty-five cases of intracranial dural convexity chondromas are reported in the literature. Several hystopathogenetic theories have been proposed: metaplasia of meningeal fibroblasts and perivascular meningeal tissue, traumatic or inflammatory cartilaginous activation of fibroblasts and growth of aberrant embryonal cartilaginous rests in the dura mater. Chondromas present clinical features similar to meningiomas. CT scan imaging shows a mass of variable density due to different degrees of calcification with minimum to moderate contrast enhancement. MRI studies show a well-circumscribed lesion without surrounding tissue oedema, that exhibit heterogeneous signal with intermediate to low intensity on T1-weighted images and mixed intensity on T2-weighted images with minimum enhancement. Angiogram is clue to differentiate from meningiomas since chondromas are completely avascular. Complete tumour resection including its dural attachment is the treatment of choice. Long-term prognosis is favourable. Radiation therapy is currently not recommended for residual tumours or inoperable patients due to risk of malignization. Noonan's syndrome (also known as pseudo-Turner syndrome) is a complex familial genetic disorder with a phenotype that resembles that of Turner's syndrome but exhibits no chromosomal defect. No predisposition of Noonan's syndrome for tumoural development is reported in the literature. Association of a dural convexity chondroma with Noonan's syndrome is unique as far as the literature is concerned.

Large chondroma of the dural convexity in a patient with Noonan’s syndrome. Case report and review of the literature

Introducción. Los condromas intracraneales sontumores extremadamente raros que suelen surgir dela sincondrosis de la base craneal. Excepcionalmente,puede crecer a partir de restos cartilaginosos en laduramadre de la convexidad o en la hoz. Se han relacionado con la encondromatosis múltiple de Ollier y con el síndrome de Maffuci. Describimos el caso de unvarón joven diagnosticado de síndrome de Noonan enel que se resecó un condroma gigante de la convexidad.Esta asociación no está descrita en la literatura hasta el momento. Caso clínico. Varón de 18 años de edad que presenta una única crisis comicial generalizada comodebut clínico. Estaba previamente diagnosticado desíndrome de Noonan basándose en su fenotipo especial(Turner-like), baja estatura, presencia de malformacióncardíaca, retraso en la maduración ósea y sexual, ycariotipo normal. No presentaba alteraciones significativas en la exploración física y neurológica salvo un leve retraso mental. El estudio de resonancia magnética cerebral mostró una masa intracraneal de gran tamaño, bien circunscrita, dependiente de la convexidad dural frontoparietal izquierda, con captación heterogéneade contraste y sin edema perilesional. Comenzó tratamiento con ácido valproico y se realizó una resección completa de la lesión. El tumor era de consistencia dura, blanco-grisáceo, avascular y pudo disecarse por completo de la corteza. Presentó crisis comiciales postoperatorias que precisaron tratamiento combinado con un segundo anticomicial. Anatomía patológica: condroma maduro. Las RM de control han mostrado ausencia de recidiva tras 33 meses de seguimiento. Discusión. Los condromas comprenden menos del 0,3% de los tumores intracraneales. Hasta la fecha, sólo se han descrito veinticinco casos de condromas de convexidad dural en la literatura. Se han propuesto diversas teorías histopatogénicas: metaplasia de fibroblastos meníngeos y tejido meníngeo perivascular, activación traumática o inflamatoria de fibroblastos hacia cartílago, y crecimiento de restos cartilaginosos embrionarios aberrantes en la duramadre. Los condromas presentan características clínicas similares a los meningiomas. La imagen de TAC muestra una masa de densidad variable debido a los diferentes grados de calcificación con mínima a moderada captación de contraste. Los estudios de RM evidencian una masa bien circunscrita sin edema perilesional, de señal heterogénea, hipointensa en T1 y de intensidad mixta en T2, y con captación mínima de contraste. La angiografía los diferencia perfectamente de los meningiomas pues aquéllos son totalmente avasculares. El tratamiento de elección es la resección completa incluyendo la duramadre adyacente. El pronóstico a largo plazo es excelente. El tratamiento con radioterapia no se recomienda ni en los restos tumorales ni en los pacientes inoperables, debido al riesgo de malignización. El síndrome de Noonan (tambiénconocido como pseudo-Turner) es una enfermedadgenética familiar compleja cuyo fenotipo se asemejaal del síndrome de Turner pero no presenta defectocromosómico. Hasta la fecha, no se ha descrito en laliteratura una predisposición al desarrollo de tumoresen los pacientes con Noonan ni tampoco la asociaciónde este síndrome con un condroma de convexidad cerebral

Introduction. Intracranial chondromas are extremelyrare intracranial tumours that usually arise fromthe skull base synchondrosis. Exceptionally, they maygrow from cartilage rests within the dura mater of theconvexity or the falx. They may be part of Ollier's multiple enchondromatosis or Maffuci's syndrome. We describe the case of a young male diagnosed of Noonan'ssyndrome that underwent resection of a large intracranialchondroma arising from the dural convexity. To our best knowledge this is the first report of such association.Case report. An 18-year-old male presented with asingle generalized seizure. The patient was previouslydiagnosed of Noonan's syndrome on the basis of hisspecial phenotype (Turner-like), low stature, cardiacmalformation, retarded sexual and bone developmentand normal karyotype. He harboured mild psychomotorretardation. Physical and neurological examinationswere unremarkable. Brain Magnetic Resonance imageshowed a large well-circumscribed intracranial massin the dural convexity of the left frontal-parietal lobes, with heterogeneous contrast enhancement and no peritumoural oedema. The patient was initiated on valproic acid and underwent craniotomy and complete excision of the tumour. The tumour was firm, white-greyish, avascular and could be finely dissected away from the cortex. Postoperative seizures required additional anticonvulsant therapy. He was discharged uneventfully. The pathological study revealed a mature chondroma. Subsequent brain MRI studies have shown no evidence of recurrence after 33 months of follow up.Discussión. Chondromas comprise less than 0.3% ofintracranial tumours. Only twenty-five cases of intracranial dural convexity chondromas are reported inthe literature. Several hystopathogenetic theories havebeen proposed: metaplasia of meningeal fibroblasts andperivascular meningeal tissue, traumatic or inflammatorycartilaginous activation of fibroblasts and growthof aberrant embryonal cartilaginous rests in the duramater. Chondromas present clinical features similar tomeningiomas. CT scan imaging shows a mass of variabledensity due to different degrees of calcification withminimum to moderate contrast enhancement. MRI studiesshow a well-circumscribed lesion without surroundingtissue oedema, that exhibit heterogeneous signalwith intermediate to low intensity on T1-weightedimages and mixed intensity on T2-weighted images withminimum enhancement. Angiogram is clue to differentiatefrom meningiomas since chondromas are completelyavascular. Complete tumour resection including itsdural attachment is the treatment of choice. Long-termprognosis is favourable. Radiation therapy is currentlynot recommended for residual tumours or inoperablepatients due to risk of malignization. Noonan's syndrome(also known as pseudo-Turner syndrome) is a complex familial genetic disorder with a phenotype that resembles that of Turner's syndrome but exhibitsno chromosomal defect. No predisposition of Noonan'ssyndrome for tumoural development is reported in theliterature. Association of a dural convexity chondromawith Noonan's syndrome is unique as far as the literatureis concerned

[The histological lesions of chronic hepatitis C as predicting factors of sustained response to the treatment with interferon]. / Las lesiones anátomo-patológicas de la hepatitis crónica C como factores predictivos de respuesta mantenida al tratamiento con interferón.

BACKGROUND: Although many studies have been implemented in order to determine the pre-treatment factors that can predict patients' response to interferon (IFN) therapy, it is not yet clear whether characteristic histologic abnormalities in chronic hepatitis C can predict such response. AIMS: The aim of this study were to evaluate, in patients with chronic hepatitis C, (i) the predictive value of histologic lesions for the sustained response to IFN therapy (ii) other pre-treatment (epidemiological and analytical) factors known to be predictive of response. PATIENTS AND METHODS: Sustained response was retrospectively evaluated in two hundred one patients who had been treated with IFN for at least 3 months in four different hospitals from Castilla y León. The following histological parameters were studied as predictors of response: histological diagnosis, Knodell index, grading and stage, characteristic histologic lesions of HCV infection. Epidemiological and analytical parameters were also evaluated. RESULTS: The rate of patient's sustained response to IFN treatment was 16%. None of the histological parameters was useful to predict this response. By univariate analysis, age, disease evolution time, mode of viral transmission, GGT, ferritin and viral genotype were associated with a sustained response. The most powerful, and only independent predictive factor, however, was the genotype (the response odds ratio was 8.6). CONCLUSIONS: Histological parameters do not predict the response to IFN treatment. Other factors (mainly the viral genotype) are associated with a higher response percentage, although no one is useful to decide which patients are going to respond.

Las lesiones anátomo-patológicas de la hepatitis crónica C como factores predictivos de respuesta mantenida al trata miento con interferón / The histological lesions of chronic hepatitis C as predicting factors of sustained response to the treatment with interferon

Introducción: Aunque se han realizado múltiples estudios para conocer los factores pre-tratamiento que pueden predecir la respuesta al tratamiento con interferón (IFN), se desconoce si las lesiones histológicas características de la hepatitis crónica C (HCC) sirven para predecir dicha respuesta. Objetivos: Valorar si los parámetros histológicos pueden predecir la respuesta mantenida al tratamiento con IFN en los pacientes con HCC, y estudiar otros parámetros (epidemiológicos y analíticos) ya descritos como factores predictivos de respuesta. Métodos: Se estudiaron de forma retrospectiva 201 pacientes, tratados con IFN durante al menos 3 meses en cuatro hospitales de Castilla y León. La variable dependiente analizada fue la respuesta mantenida al tratamiento. Como factores predictivos de respuesta se estudiaron las siguientes variables histológicas: diagnóstico histológico, índice de Knodell total y por apartados, grado y estadio, y lesiones características de la HCC. Además, se analizaron parámetros epidemiológicos y analíticos. Resultados: El 16 por ciento de los pacientes presentó una respuesta mantenida. Ninguno de los parámetros histológicos sirvió para predecir dicha respuesta. Demostraron ser factores predictivos en el análisis bivariante la edad, el tiempo de evolución de la HCC, la vía de transmisión, la GGT, la ferritina y el genotipo viral. El factor predictivo más importante fue el genotipo viral, y el único asociado independientemente a la respuesta mantenida ("odds ratio" de respuesta al tratamiento de 8,6). Conclusiones: Los parámetros histológicos no predicen la respuesta al tratamiento con IFN. Otros factores, fundamentalmente el genotipo viral, se asocian a un mayor porcentaje de respuestas, aunque ninguno sirve para decidir con exactitud qué pacientes responderán. (AU)

[Ureteral endometriosis]. / Endometriosis ureteral.

OBJECTIVE: To report a case of ureteral endometriosis, an uncommon disease in the urological practice that is diagnosed late and may cause irreversible damage to the upper urinary tract. METHODS/RESULTS: A case of unilateral ureteral endometriosis is presented. After attempting hormonal therapy and endourological management, the patient eventually underwent aggressive surgical treatment. CONCLUSIONS: The diagnosis of ureteral endometriosis should be considered in women presenting with noncalculous renal obstruction, particularly premenopausal women of low parity or those who have had previous pelvic surgery. Only a high index of suspicion and the radiological supports may help to reduce the number of alarming nephrectomies associated to this condition.

[Sinusoidal portal hypertension secondary to nodular regenerative hyperplasia of the liver]. / Hipertensión portal sinusoidal secundaria a hiperplasia nodular regenerativa hepática.

Regenerative hepatic nodular hyperplasia is infrequent and generally appears in association with many other diseases, the most frequent being the Felty syndrome. It may cause portal hypertension and variceal bleeding. A histologic study is necessary for diagnosis since certain biologic data and the nodular appearance of the hepatic surface may be confused with hepatic cirrhosis from which it may basically be, apart from the histologic features, distinguished by its good prognosis due to the absence of liver failure. We present the case of a seropositive patient with regenerative hepatic nodular hyperplasia and rheumatoid arthritis with marked portal hypertension shown in the hemodynamic study performed by our department for presentation of a persistent elevation in transaminases and ultrasonography alterations suggesting hepatic cirrhosis.

[Adrenal epithelial cyst of embryonal vestiges]. / Quiste epitelial suprarrenal de restos embrionarios.

A 10 x 6.5 cm cyst with ciliated cell lining was removed from a 43-year-old woman. The immunohistochemical studies demonstrated that the cyst cells expressed keratins (Lu 5+) and the adrenal cortical cells did not, suggesting that the cyst lining was not derived from adrenal cells. The presence of ciliated cells indicates that the cyst was derived from embryonal vestiges.