[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.

[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.

[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.

[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.

[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.

[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.

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.

[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.