Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2-year-old Labrador Retriever developed atrophy of the right temporal muscle, subsequently showed generalized seizure and died 2 months after the clinical onset. Postmortem examination revealed the tumor masses in the right mandibulopharyngeal area, nasopharynx and intracranial space. Histopathologically, these tumor masses were composed of small round neoplastic cells and neuropil-like stroma separated by fibrovascular septa. In the neoplastic masses, small neoplastic cells with round to oval hyperchromatic nuclei and scanty cytoplasm predominated, and angulated neoplastic cells with larger nuclei and moderate cytoplasm were scattered. Immunohistochemically, neoplastic cells were positive for neuron specific enorase, neurofilament protein, chromogranin A, synaptophysin and tyrosine hydroxylase. Based on these findings, this case was diagnosed as peripheral neuroblastoma, presumably originated from the sympathetic ganglion, maybe right craninal cervical ganglion.
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PMID:Peripheral neuroblastoma in a young labrador retriever. 1265 27

Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiologic disease entity represented by characteristic magnetic resonance image (MRI) findings of subcortical/cortical hyperintensity in T2-weighted sequences, more often observed in parieto-occipital lobes, accompanied by clinical neurologic alterations. PRES is a rare central nervous system complication in childhood hematologic-oncologic patients and shows very different neurologic symptoms between patients, from numbness on extremities to generalized seizure. The etiology of PRES was not well known until these days. In this study, 8 patients with PRES were reviewed, retrospectively. There were 4 patients with acute lymphocytic leukemia, 1 with aplastic anemia, and 3 with solid tumors (1 patient each for neuroblastoma, Ewing sarcoma, and osteosarcoma). Allogeneic stem cell transplantation was performed in 2 patients. Immunosuppressive agents such as tacrolimus and cyclosporine A were used in 3 patients. One neuroblastoma patient was in immediate postoperative status. All patients experienced seizure attacks of different types and showed typical MRI findings. Follow-up MRIs revealed significant improvements. From this review, we might consider chemotherapy and surgery as additive causes for PRES other than immunosuppressive agents. Therefore, careful examination of the patients receiving chemotherapy and surgery was needed to find out this uncommon but good prognostic complication.
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PMID:Posterior reversible encephalopathy syndrome in childhood with hematologic/oncologic diseases. 1956 46

A 2-year-old girl who had previously been treated for stage IV intra-abdominal neuroblastoma presented with headache and vomiting. Computed tomography (CT) showed hematoma in the right temporal lobe. Two months previously, she had suffered a generalized seizure but brain CT was unremarkable. The hematoma was removed completely without evidence of vascular anomaly or tumor. Four weeks after surgery, magnetic resonance imaging with gadolinium showed a developing mass lesion in the hematoma bed. A second operation for tumor removal confirmed the rare diagnosis of intraparenchymal metastasis. Metastatic neuroblastoma to the central nervous system (CNS) occasionally can cause massive hemorrhage. Therefore, early detection of CNS metastasis can be important. The related factors in this patient with abdominal neuroblastoma included elevated serum lactate dehydrogenase, N-myc gene amplification, and coexisting orbital metastasis, which all occurred within 22 months from initial diagnosis. The median interval from diagnosis of the primary tumor to diagnosis of CNS metastasis in neuroblastoma is 12-22 months, which indicates relatively late metastasis presentation. The initial presentation of this late metastasis is hemorrhage that can have sudden detrimental consequences, so a patient with neuroblastoma must be followed up carefully, particularly if elevated serum lactate dehydrogenase, orbital metastasis, N-myc gene amplification, or clinical symptoms are present, even if brain CT is unremarkable. The understanding that intraparenchymal hematoma can occur prior to detectable CNS metastasis may be important for early detection of this life-threatening condition.
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PMID:Unexpected intraparenchymal hematoma caused by brain metastasis in a patient with neuroblastoma: case report. 2212 83

Giant pituitary adenomas are clinically nonfunctioning adenomas, and the clinical presentation is usually secondary to compression of the neighboring structures. Visual impairment and visual field defect are the most common preoperative symptoms, followed by headache. Generalized seizures may occur in giant pituitary adenomas when there is involvement of frontal lobes or medial temporal lobes. We present a case of a unilateral nasal mass with generalized seizures in a 55-year-old woman without prior episode of seizure and any predisposing factors. Imaging showed a sinonasal tumor with intracranial extension and histopathological examination confirmed a corticotroph adenoma. On seeing a patient with a unilateral nasal mass extending down from the roof of nasal cavity, olfactory neuroblastoma, or meningo-encephalocoele readily comes to mind. To avoid misdiagnosis and delay in treatment, imaging and, if possible, a biopsy should be considered. Giant pituitary adenoma although not common should be thought of as one of the differential diagnosis.
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PMID:A Unilateral Nasal Mass With Generalized Seizures: Potential Diagnostic Pitfalls in Giant Pituitary Adenoma. 3189 52