1/1410. SSPE following neonatal measles infection.The authors report a case of subacute sclerosing panencephalitis in a child who had measles during the neonatal period. At 3 years, 6 months of age, over a period of a few weeks, the patient lost the ability to sit unaided as a result of progressive truncal ataxia, without apparent cognitive changes, simulating acute cerebellar ataxia. His symptoms improved in 1 month, and he was able to walk again with support, but mental alteration and periodic mild head nodding on awakening followed. His illness was diagnosed as subacute sclerosing panencephalitis on the basis of the elevated titers of measles antibodies in the cerebrospinal fluid. measles infection before 1 year of age is a risk factor of subacute sclerosing panencephalitis, but reports about patients with neonatal measles infection are rare. Immaturity of the brain at the time of measles infection may not only be a risk factor but may also influence the clinical course of the disease.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
2/1410. technetium-99m-HmPAO brain SPECT in infantile Gaucher's disease.The authors report serial technetium-99m hexamethylpropylene-amine-oxime brain single photon emission computed tomography (SPECT) findings in two infants with Gaucher's disease type 2. Detailed neurologic and laboratory examinations, including bone marrow biopsies and enzymatic assays, were described. Serial brain magnetic resonance imaging studies in one patient illustrated the progressive cerebral atrophy in the frontal and temporal lobes. The SPECT in both cases demonstrated positive findings of initial scattered hypoperfusion, with extending to hypoperfusion of the entire cerebrum after 4 months of clinical deterioration. These changes in the SPECT findings may reflect progressive degeneration of the cerebrum in Gaucher's disease type 2. brain SPECT may provide useful information on cerebral flow and metabolic distribution corresponding to the neurologic deficits of neuronopathic Gaucher's disease.- - - - - - - - - - ranking = 7keywords = disease (Clic here for more details about this article) |
3/1410. central nervous system T-cell lymphoproliferative disorder in a patient with chronic active Epstein-Barr virus infection.PURPOSE: central nervous system (CNS)-T cell lymphoproliferative disorder (T-LPD) developing during the course of chronic active Epstein-Barr virus (CAEBV) infection is reported. patients AND methods: CAEBV was diagnosed in a 14-month-old boy with fever, cytopenia, hepatosplenomegaly, and abnormal high titers of anti-Epstein-Barr virus (EBV) antibodies. At 8 years of age, he had a splenectomy because of progressive disease. RESULTS: After 27 months of clinical remission, muscle weakness and paresthesia developed. magnetic resonance imaging of his brain showed spotty T2 prolongation in left parietal, bilateral frontal, and temporal white matter with meningeal enhancement. brain biopsy revealed the cerebral infiltration of CD3 , CD4 , CD8-, CD45RO , CD56-, and EBV-encoded rna 1 cells. CONCLUSIONS: The CNS involvement of EBV-associated T-LPD is a rare but serious complication in CAEBV without known underlying immunodeficiency.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
4/1410. Multifocal osteosarcoma: an unusual presentation.PURPOSE: Report the unusual presentation, clinical course, and cytogenetic abnormalities in a child with multifocal osteosarcoma. patients AND methods: A 10-year-old boy had multifocal osteosarcoma involving the entire skeleton, pleura, bone marrow, and lungs. He had marked anemia, thrombocytopenia, and severe hypocalcemia at diagnosis. RESULTS: Despite aggressive chemotherapy, he died from progressive disease 1 month after diagnosis. cytogenetic analysis of tumor cells within the pleural fluid showed multiple chromosomal abnormalities with amplification of the c-myc oncogene. CONCLUSION: Multifocal osteosarcoma should be considered in the differential diagnosis of a child with pancytopenia and multiple bone lesions. Amplification of the c-myc oncogene may have had a significant role in the pathogenesis, etiology, and rapid progression of this patient's multifocal disease. Additional studies will be needed to determine the biologic significance of c-myc amplification in multifocal osteosarcoma.- - - - - - - - - - ranking = 2keywords = disease (Clic here for more details about this article) |
5/1410. Prolonged survival of a patient with sickle cell trait and metastatic renal medullary carcinoma.PURPOSE: The treatment and outcome of a patient with sickle cell trait and metastatic renal medullary carcinoma is described. PATIENT AND methods: A 12-year-old boy with sickle cell trait had metastatic renal medullary carcinoma. After surgical resection of the primary tumor, he received chemotherapy with methotrexate, vinblastine, doxorubicin, and cisplatin. The carcinoma progressed after a 6-month period of stable disease. At that time, he received chemotherapy including ifosfamide, etoposide, carboplatin, and topotecan. RESULTS: The patient died of progressive disease 15 months from diagnosis. The patient's tumor in this report showed no progression while he was receiving methotrexate, vinblastine, doxorubicin, and cisplatin, but eventually became refractory to these and other cytotoxic agents. CONCLUSION: Renal medullary carcinoma is a highly chemotherapy-resistant tumor. Average survival after diagnosis is 15 weeks; the longest survival reported in the literature is 12 months from diagnosis. The patient in this report survived longer than the previously described patients before dying from progressive disease.- - - - - - - - - - ranking = 3keywords = disease (Clic here for more details about this article) |
6/1410. Digital clubbing in a patient with progressive mantle cell lymphoma.Digital clubbing with or without hypertrophic osteoarthropathy may occur in a variety of neoplastic diseases. We present the first description of digital clubbing in a patient with progressive mantle cell lymphoma, in the absence of any other apparent etiology. We suggest that clubbing might be a paraneoplastic manifestation in mantle cell lymphoma. The literature on digital clubbing in hematological neoplasms is reviewed.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
7/1410. Clinical presentation and types of Dupuytren's disease.The clinical presentation of Dupuytren's disease is discussed with emphasis on dermato-pathology, the nodule, the cord, ectopic manifestations regional and distant, and disease progression. The differential diagnosis also is described with a list of pseudo-Dupuytren's disease cases. Observations by this author suggest that there are two distinct clinical entities responsible for palmar fascial contracture, namely typical Dupuytren's disease and atypical Dupuytren's contracture. These two types seem to differ in presentation, treatment, and prognosis. The characteristic clinical findings of each of these two types are described. The disparity among treatment outcome studies and epidemiologic studies with regard to the prevalence of Dupuytren's disease is probably in part due to lack of distinction between these two clinical types. Accurate diagnosis and satisfactory treatment outcome can be achieved by careful history, thorough physical examination, and keen understanding of the pathophysiology of this enigmatic disease.- - - - - - - - - - ranking = 10keywords = disease (Clic here for more details about this article) |
8/1410. fibromuscular dysplasia involving coronary arteries--a case report.The authors report a young patient with fibromuscular dysplasia involving multivessels including coronary arteries. If young patients have chest pain on effort, fibromuscular dysplasia of coronary arteries must be considered. As fibromuscular dysplasia is a chronic progressive disease and some cases progress rapidly in a few months, careful follow-up and comprehensive medical management may be necessary in such patients.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
9/1410. Evolution of left ventricular diseasein the fetus. Case report.A fetal case is described that showed a rapid progression from the features of initial left ventricular fibroelastosis at 20 weeks of gestation to a more marked dilation at 22 weeks and finally to a hypoplastic left ventricle with aortic stenosis at 24 weeks of gestation. This case confirms the evolutive character of left ventricular disease during fetal life.- - - - - - - - - - ranking = 5keywords = disease (Clic here for more details about this article) |
10/1410. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder?A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.- - - - - - - - - - ranking = 4keywords = disease (Clic here for more details about this article) |
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