1/248. Recurrent short rib-polydactyly syndrome with unusual associations.short rib-polydactyly syndrome (SRPS) is manifested by short-limb dwarfism, short ribs with thoracic hypoplasia, and polydactyly. This inheritable syndrome has distinct imaging findings on prenatal sonography, and ancillary findings on both pre- and postnatal assessments may enable individual cases to be classified into 1 of 4 subtypes. In this report, we present a recurrent case of SRPS that was associated with a cystic hygroma and choroid plexus cysts. Although cystic hygromas are not uncommonly seen in skeletal dysplasias, the presence of concomitant cystic hygroma and choroid plexus cysts suggests a chromosomal abnormality such as trisomy 18.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
2/248. Composite ganglioglioma and dysembryoplastic neuroepithelial tumor.Both ganglioglioma and dysembryoplastic neuroepithelial tumors are well-recognized glial-neuronal neoplasms associated with chronic epilepsy and cortical dysplasia (neuronal migration abnormalities). The exact relationship between these 2 glial-neuronal tumors continues to be debated. This article reports a case of a composite ganglioglioma and dysembryoplastic neuroepithelial tumor occurring in a 36-year-old woman in the left temporal lobe region. The resection histologically demonstrated distinct areas of ganglioglioma and dysembryoplastic neuroepithelial tumor. A focal area of cortical dysplasia is also identified. The MIB-1 labeling indexes in both components were low (<1% of tumor cell nuclei). The coexistence of these 2 lesions and cortical dysplasia suggest a possible etiologic relationship between these 2 tumors.- - - - - - - - - - ranking = 3keywords = dysplasia (Clic here for more details about this article) |
3/248. Neurocutaneous melanosis presenting with intracranial amelanotic melanoma.We describe imaging findings in a 2-year-old girl with neurocutaneous melanosis and malignant cerebral melanoma. Because the cerebral melanoma in this child was of the amelanotic type, high-signal intensity on unenhanced T1-weighted images was not present. The cutaneous lesions played a crucial role in establishing a correct (presumed) histopathologic diagnosis on the basis of the imaging findings. To our knowledge this is the first report describing an intracranial amelanotic malignant melanoma in association with neurocutaneous melanosis.- - - - - - - - - - ranking = 286.18214151192keywords = neurocutaneous (Clic here for more details about this article) |
4/248. The Chiari II malformation: lesions discovered within the fourth ventricle.Structural lesions associated with the Chiari II malformation have been identified within the fourth ventricle in 8 patients. During the 42-month period encompassing the operations of the 7 patients treated surgically, only 9 other patients were explored without the discovery of some associated structural lesion. The patients ranged in age from 2 to 26 years. The following lesions were identified: glial or arachnoidal cysts (3 patients), glial or choroidal nodules (3 patients) and subependymoma (2 patients). These lesions were all situated in the roof of the fourth ventricle adjacent to or interspersed with the choroid plexus. Only the cystic lesions were identified by preoperative imaging. In only 1 case did the associated lesion, a 2-cm cyst, seem to contribute to the patient's clinical presentation. Structural lesions of the fourth ventricle associated with the Chiari II malformation are common in patients who are submitted to decompression. These lesions may be dysplasias of developmental origin, or they may be reactive lesions related to chronic compression and ischemia. They do not necessarily required biopsy or excision.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
5/248. Peripheral-type primitive neuroectodermal tumor arising in the tentorium. Case report.The authors report the case of a peripheral primitive neuroectodermal tumor (PNET) arising in the tentorium in a 5-year-old boy who presented with frequent vomiting and mild palsy of the left abducent nerve. Following complete surgical excision of the tumor via a transpetrosal approach, the patient has thus far been disease free for 7 years. The tumor tissue was composed of small cells with uniform round nuclei and minimal identifiable cytoplasm. Homer-Wright rosettes were frequently observed. Immunohistochemical studies demonstrated a positive reaction to HBA-71, which recognizes the cell surface glycoprotein p30/32, a product of the MIC2 gene. Both the clinical and immunohistochemical characteristics of this tumor are consistent with a diagnosis of peripheral PNET, which is genetically distinct from the more common intracranial PNET.- - - - - - - - - - ranking = 5684.009634957keywords = neuroectodermal (Clic here for more details about this article) |
6/248. glioblastoma multiforme in a mature ovarian teratoma with recurring brain tumours.AIMS: We report a case study to highlight the occurrence of glioblastoma multiforme in an ovarian teratoma. methods AND RESULTS: A 10-year-old girl presented with a left frontal lobe primitive neuroectodermal tumour which was successfully treated. After 6 uneventful years, she developed glioblastoma multiforme located posterior to the site of the initial tumour. Six years later, she presented with a mature cystic teratoma containing glioblastoma multiforme. CONCLUSIONS: glioblastoma in an ovarian teratoma is an exceptional event, which might have an initial clinical presentation as a metastatic brain tumour. Alternatively, recurring glial tumours may occur in a genetically predisposed person; the role of radiation and chemotherapy in this context remains to be elucidated.- - - - - - - - - - ranking = 1136.8019269914keywords = neuroectodermal (Clic here for more details about this article) |
7/248. Malignant ectomesenchymoma. Case report and review of the literature.Malignant ectomesenchymoma is an uncommon neoplasm composed of neuroectodermal elements and one or more mesenchymal neoplastic elements. It is believed to arise from remnants of migratory neural crest cells (ectomesenchyme). The authors report the clinical and pathological findings of a 3-year-old girl with malignant ectomesenchymoma of the CNS. Embryogenesis of this tumor is discussed, and a review of the literature with 39 other cases is done.- - - - - - - - - - ranking = 1136.8019269914keywords = neuroectodermal (Clic here for more details about this article) |
8/248. Frontonasal dysostosis in two successive generations.Frontonasal dysostosis (also called frontonasal "dysplasia") comprises ocular hypertelorism, median facial cleft affecting nose and/or upper lip, unilateral or bilateral cleft of the alae nasi, anterior cranium bifidum occultum, or a widow's peak. Usually it is a sporadic disorder, although a few familial cases have been reported. We describe a 2-year-old girl with anterior cranium bifidum occultum, lipoma of genu and anterior part of the corpus callosum, and hypertelorism. Her mother had a history of a nasal drip at birth caused by a defect in the cribriform plate and phenotypically, a widow's peak. This observation suggests either autosomal dominant or X-linked dominant inheritance. The family illustrates the importance of identifying mild expression of frontonasal dysostosis before genetic counseling.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
9/248. Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.Neurofibromatosis type 1 (NF1) is one of the commonest autosomal dominant disorders in man. It is characterised by cafe au lait spots, peripheral neurofibromas, Lisch nodules, axillary freckling, skeletal dysplasia, and optic glioma. Symptomatic brain tumours occur in 1.5-2.2% of patients with NF1. We report here a family where seven members developed brain tumours. Of these, three have a clinical history strongly suggestive of NF1, while two do not fulfil diagnostic criteria for the disorder. A splice site mutation in exon 29 of the NF1 gene was found in these two subjects. This lesion is thought to be disease causative since it creates a frameshift and a premature termination of the neurofibromin protein. Different hypotheses to explain the unusual recurrence of brain tumours in this family, such as the nature of the mutation or cosegregation of other predisposing genes, are discussed.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
10/248. Primary malignant rhabdoid tumours of brain, clinicoradiological findings of two cases.Malignant rhabdoid tumours (MRT) are extremely malignant, highly aggressive and uncommon renal neoplasms of childhood with very poor prognosis. About fifteen cases of primary intracranial MRT (with their clinical details) are reported in English literature, following the recognition of this entity in 1978. Two cases of MRT are reported here. The first case, one year male baby was admitted with a very large, infiltrative, posterior fossa mass. He required elective ventilation, following the tumour decompression but ultimately died of respiratory failure during the process of weaning from the ventilator. The second child was operated for an extremely vascular, very friable, solid and lobulated tumour of temporal lobe. Radical microsurgical decompression of mass was achieved, however the child developed massive recurrence, documented five weeks after the surgery while on radiotherapy. His recurrence showed partial response to radiotherapy and chemotherapy. The child is alive at 8 month's follow up, but probably passing the terminal days of his life. Hence the recognition of this entity is very essential for the aggressive management and prognostication of the patient, which obviously seems to be different from primitive neuroectodermal tumour.- - - - - - - - - - ranking = 1136.8019269914keywords = neuroectodermal (Clic here for more details about this article) |
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