Cases reported "Gaucher Disease"

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11/135. Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance.

    Gaucher's disease type I is the most prevalent lysosomal storage disorder caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by progressive visceral enlargement and gradual replacement of bone marrow with lipid-laden macrophages. Skeletal disease is a major source of disability in Gaucher's disease. Extraosseous extension of Gaucher cells is an extremely rare manifestation of skeletal Gaucher's disease. This is a report on the MRI and histopathological findings of an extraosseous Gaucher-cell extension into the midface in a patient with Gaucher's disease.
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12/135. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes gaucher disease.

    gaucher disease is the most prevalent sphingolipid storage disorder in humans caused by a recessively inherited deficiency of the enzyme glucocerebrosidase. More than 100 mutations have been described in the glucocerebrosidase gene causing gaucher disease. Some of them are complex alleles with several mutations due to recombination events between the gene and its highly homologous pseudogene. The generation of these recombinant alleles involves, in most cases, a crossover in the 3' end of the gene, beyond exon 8. However, in a few cases recombination took place in a more upstream location. Here we describe the analysis of a patient with type I gaucher disease who bears a new complex allele. This allele was originated by a crossover between the gene and the pseudogene at intron 2, the most upstream recombination site described so far, which gave rise to a fusion gene. The patient was first diagnosed as homozygous for the c.1226 A --> G (N370S) mutation but the early onset of the disease prompted us to perform parental dna analysis which showed that the mother was not a N370S carrier, suggesting deletion of at least part of the gene. Molecular analysis of the complex allele was carried out by Southern blot, PCR, and sequencing. We were able to close down the region of the recombination event to an interval of 18 nucleotides, corresponding to the last 15 nucleotides of intron 2 and the first 3 nucleotides of exon 3 of the gene. These 18 nucleotides are identical between the gene and pseudogene making any further refinement impossible. An exhaustive list of published glucocerebrosidase complex alleles, describing their recombination points, is included for comparison.
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13/135. A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.

    We report a new variant type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, gastroesophageal reflux, and fibrous thickening of splenic and hepatic capsules. This patient had 1 D409H allele. He differed from other reported cases with a 1342G to C (D409H) homozygous mutation (onset at 4 months, no cardiac involvement until the age of 12 years, and massive hepatosplenomegaly with fibrous thickening of spleen and liver capsules). Enzyme replacement therapy was given for 4 years, resulting in an improvement of visceral and hematologic abnormalities but no neurologic improvement.
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14/135. adult gaucher disease in association with primary malignant bone tumors.

    BACKGROUND: Malignant neoplastic disorders are more common in patients with gaucher disease (GD) than in the general population. Very few cases of primary malignant bone tumors in association with GD have been reported to date. Thus, the recommendations for an adequate therapy are often based on limited professional experience. To their knowledge, the authors report the first case of a leiomyosarcoma of the bone in a patient with GD and report another patient with GD and an anaplastic large cell non-Hodgkin lymphoma with localized osseous manifestation. A review of the literature is included. methods: The clinical, radiologic, and histologic data of the authors' two patients who had GD and primary malignant bone tumor are presented. Epidemiologic data, clinical data, and treatment results from published reports of 18 patients who had GD and various malignancies and the authors' 2 patients were compared and evaluated. RESULTS: Radiographic examination showed a destructive osteolytic lesion in a case of a leiomyosarcoma of the bone and in a case of anaplastic, large-cell, non-Hodgkin lymphoma. In both cases, the bone marrow architecture was partially effaced by sheets of large histiocytic cells with striated or fibrillary cytoplasm. In both patients, chemotherapy was performed. Whereas the patient who had the leiomyosarcoma showed poor recovery of the bone marrow that necessitated withdrawal of aggressive chemotherapy, the patient who had non-Hodgkin lymphoma and enzyme therapy tolerated the chemotherapy well. In spite of local control after preoperative radiotherapy and hemipelvectomy, the first patient developed lung metastases and finally died. The second patient was continuously free of disease at a follow-up examination 32 months after chemotherapy and radiotherapy. In a total of 20 patients who had malignant disorders and GD, the numbers of males and females were equivalent, and the mean age was 55 years. Approximately 33% presented with a cancer originating in the bone. In 16 patients, follow-up data were available. Of these, after a mean follow-up of 36 months (range, few days-108 mos), only 2 patients were continuously free of disease, and one patient was alive with disease. The other patients had died of disease or hemorrhagic complications of GD. CONCLUSIONS: Because there is a relatively high incidence of malignant disorders of the bone, the study suggested that malignant disorders have to be included in the differential diagnosis of painful lytic lesions in patients who have GD. Evaluation of the expense and value of enzyme therapy to patients who have GD should be undertaken with regard to the incidence of malignant disorders and patient survival.
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15/135. pregnancy after avascular necrosis of the femur complicating Gaucher's disease.

    A patient with type I Gaucher's disease had avascular necrosis of the right femoral head that resulted in an altered bony pelvis and marked restriction of right hip abduction. enzyme replacement therapy with alglucerase prevented further deterioration and improved thrombocytopenia. Vaginal delivery was achieved with the patient in the left lateral position with exaggerated flexion at the contralateral hip.
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keywords = replacement therapy, replacement
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16/135. Improvement of neurological symptoms by enzyme replacement therapy for gaucher disease type IIIb.

    enzyme replacement therapy might improve chronic liver dysfunction and contribute to the resolution of basal ganglia lesions in patients with type 3b gaucher disease.
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ranking = 112760.27087016
keywords = enzyme replacement therapy, enzyme replacement, replacement therapy, enzyme, replacement
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17/135. Neurological features in Gaucher's disease during enzyme replacement therapy.

    This report describes two patients with Gaucher's disease who had unusual clinical symptoms during enzyme replacement therapy. One patient was a female with type 3 Gaucher's disease. She developed a pericardial effusion at 7 y of age, which contained many Gaucher cells despite enzyme replacement therapy. She died from neurological deterioration during enzyme replacement therapy, despite an improvement in her visceral manifestations. The other patient is a male with type 2 Gaucher's disease, who has achieved long-term survival after being supported by mechanical ventilation and enzyme replacement therapy. While on enzyme replacement therapy at the age of 4 y, he suffered a generalized cutaneous disease which was clinically diagnosed as ichthyosis. Conclusion: These cases suggest that ordinary enzyme replacement therapy is insufficient for some of the non-neurological manifestations of severe types of Gaucher's disease.
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ranking = 281738.30953947
keywords = enzyme replacement therapy, enzyme replacement, replacement therapy, enzyme, replacement
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18/135. Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.

    While the inherited deficiency of the enzyme glucocerebrosidase (gaucher disease) is panethnic in its distribution, there have not been studies of the mutations encountered in specific ethnic groups in the united states, other than those on Ashkenazi jews. We present the clinical descriptions and genotypes of seven patients of African-American ancestry with type 1 gaucher disease, and summarize the published literature regarding the genotypes encountered in this population. All seven of the patients had moderate-to-severe manifestations of the disease, and all developed symptoms by adolescence. Genotypic analyses revealed that no two probands shared the same genotype. The common mutations N370S, c.84-85insG, IVS2 1 G-->A, and R463C were not seen. mutation L444P was present on one allele in each of the patients; but the same mutation was encountered as a single point mutation in three of the patients, and as part of a recombinant allele in four of the patients. Southern blot analyses revealed a glucocerebrosidase fusion allele in one patient, and a duplication resulting from recombination in the region downstream from the glucocerebrosidase gene in three of the patients. Five different point mutations (A90T, R48W, N117D, R170C, and V352L), one deletion mutation (c.222-224 delTAC), and one insertion mutation (c.153-154 insTACAGC) were encountered. Our results demonstrate that there is significant genotypic heterogeneity among African-American patients with type 1 gaucher disease, and that recombinations in the glucocerebrosidase gene locus are particularly common in this patient group. Published 2001 Wiley-Liss, Inc.
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keywords = enzyme
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19/135. High-grade lymphoma mimicking bone crisis in Gaucher's disease.

    A 33-year-old woman with type 1 Gaucher's disease developed painful swelling of her right tibia. Initial diagnostics suggested a typical bone crisis. However, clinical course and subsequent imaging pointed to malignant disease, which was specified as high-grade lymphoma. Chemotherapy was applied together with enzyme replacement and resulted in complete remission of the lymphoma. We conclude that osseous lesions, although suggestive of common manifestations of Gaucher's disease, should be discriminated very carefully from neoplastic infiltration to maintain curative treatment options.
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ranking = 6951.4990794588
keywords = enzyme replacement, enzyme, replacement
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20/135. Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 gaucher disease: a report of sibling cases.

    gaucher disease is a genetic lipid storage disease and represents a potentially serious health problem. It arises from a deficiency of glucocerebrosidase activity with secondary accumulation of large quantities of glucocerebroside. Symptoms are usually multisystemic, often debilitating or disabling, and sometimes disfiguring, and they can lead to death. We report objective clinical response's to repeated infusion of human placental and recombinant glucocerebrosidase in 2 patients with type 1 gaucher disease and increased hemoglobin levels and platelet counts. Splenic volume decreased during the period of enzyme administration. enzyme replacement therapy has improved the treatment of type 1 gaucher disease by safely and effectively arresting, decreasing, or normalizing many of its major signs and symptoms. Consideration by physicians must be given to gaucher disease, and appropriate treatments must be given when confronted with cryptogenic pancytopenia or hepatosplenomegaly.
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ranking = 112762.09843543
keywords = enzyme replacement therapy, enzyme replacement, replacement therapy, enzyme, replacement
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