1/408. Pseudogaucher cells in cutaneous mycobacterium avium intracellulare infection: report of a case.We report on a patient infected with human immunodeficiency virus, and with cutaneous mycobacterium avium intracellulare, in whom many cells with abundant reticulated cytoplasm resembling the characteristic cells of Gauchers disease ("pseudogaucher cells") were noted within the dermal infiltrate on biopsy. Although pseudogaucher cells have been reported in association with M. avium intracellulare infection in extracutaneous sites, this is, to our knowledge, the first report of cutaneous pseudogaucher cells in the skin.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
2/408. 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) |
3/408. Massive splenomegaly and Epstein-Barr virus-associated infectious mononucleosis in a patient with gaucher disease.PURPOSE: gaucher disease should be considered in the differential diagnosis of a patient with Epstein-Barr virus (EBV) infection who has unexplained or disproportionate splenomegaly. patients AND methods: A previously asymptomatic adolescent with EBV-associated infectious mononucleosis and massive splenomegaly is described. He was found to have gaucher disease on bone marrow biopsy, which was performed to exclude a hematologic malignancy. The diagnosis was confirmed by assay of beta-glucosidase enzyme activity. RESULTS: Regression of splenomegaly and improving hematologic indices. CONCLUSION: patients with infectious mononucleosis and disproportionate organomegaly should be investigated to exclude a hematologic malignancy or an underlying storage disorder such as gaucher disease.- - - - - - - - - - ranking = 7keywords = disease (Clic here for more details about this article) |
4/408. hepatopulmonary syndrome in gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA.hepatomegaly is a common manifestation in gaucher disease. In some patients with the disease, hepatic fibrosis and portal hypertension are observed. A patient with gaucher disease with the hepatopulmonary syndrome associated with severe cyanosis and hypoxemia was examined for intrapulmonary right-to-left shunt using Tc-99m MAA. Quantitative evaluation revealed an approximately 50% right to left shunt as indicated by Tc-99m MAA activity in the lungs and systemic organs.- - - - - - - - - - ranking = 7keywords = disease (Clic here for more details about this article) |
5/408. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.gaucher disease is an autosomal recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal hydrolase, acid beta-glucosidase. Three phenotypically distinct subtypes result from different acid beta-glucosidase mutations encoding enzymes with absent or low activity. A severe neonatal type 2 variant who presented with collodion skin, ichthyosis, and a rapid neurodegenerative course had two novel acid beta-glucosidase alleles: a complex, maternally derived allele, E326K L444P, and a paternally inherited nonsense mutation, E233X. Because the only other non-pseudogene-derived complex allele, D140H E326K, also had the E326K lesion and was reported in a mild type 1 patient with a D140H E326K/K157Q genotype, these complex alleles and their individual mutations were expressed and characterized. Because the E233X mutation expressed no activity and the K157Q allele had approximately 1% normal specific activity based on cross-reacting immunologic material (CRIM SA) in the baculovirus system, the residual activity in both patients was primarily from their complex alleles. In the type 1 patient, the D140H E326K allele was neuroprotective, encoding an enzyme with a catalytic efficiency similar to that of the N370S enzyme. In contrast, the E326K L444P allele did not have sufficient activity to protect against the neurologic manifestations and, in combination with the inactive E233X lesion, resulted in the severe neonatal type 2 variant. Thus, characterization of these novel genotypes with non-pseudogene-derived complex mutations provided the pathogenic basis for their diverse phenotypes.- - - - - - - - - - ranking = 5keywords = disease (Clic here for more details about this article) |
6/408. Gaucher's disease with valve calcification: possible role of Gaucher cells, bone matrix proteins and integrins.Gaucher's disease, an autosomal recessive storage disease, leads to deposition of glucocerebrosides in various organs, especially those of the reticuloendothelial system. The heart is not thought to be frequently involved and studies of patients with cardiac involvement have concentrated on myocardial involvement. Despite careful prior investigation Gaucher cells have never been detected in the valves of these patients. Pathological findings of a patient with Gaucher's disease, type IIIc, with prominent cardiac valvular involvement are reported and, for the first time, the presence of Gaucher cells in the valve tissue is documented. There is evidence that the pathogenesis of the valvular injury may be by way of a cell-mediated mechanism involving bone matrix proteins and integrins.- - - - - - - - - - ranking = 7keywords = disease (Clic here for more details about this article) |
7/408. Coexistence of factor xi (plasma thromboplastin antecedent) deficiency and Gaucher's disease.The findings of factor xi (plasma thromboplastin antecedent) deficiency in a patient with Gaucher's disease was investigated. A family study, which included measurements of leukocyte glucocerebrosidase activity and factor xi levels, revealed that the two genetic disorders segregated independently. One of 12 additional unrelated patients with Gaucher's disease showed a diminished factor xi level and two of seven unrelated factor xi-deficient patients showed decreased glucocerebrosidase activity. It is possible that the common occurrence of both genetic disorders results from a high gene frequency of both defects in Ashkenazic jews.- - - - - - - - - - ranking = 6keywords = disease (Clic here for more details about this article) |
8/408. Brainstem pathology of infantile Gaucher's disease with only wave I and II of auditory brainstem response.We studied the auditory brainstem response (ABR) and neuropathology in a female infant who died at six months of age because of typical infantile Gaucher's disease. The patient was hospitalized for hepatosplenomegaly and failure to thrive. Her ABR showed only waves I and II. The neuropathological study disclosed that: (1) Gaucher's cells were found in the perivascular region of the cerebrum and anterior ventral nucleus of the thalamus. (2) gliosis was found in the dorsal part of the brainstem rather than the ventral part. (3) Neuronal cells in the superior olivary nucleus were lost, and marked gliosis was found in the cochlear nucleus. The disappearance of wave III and later waves of ABR could be supported by these pathological findings.- - - - - - - - - - ranking = 5keywords = disease (Clic here for more details about this article) |
9/408. pregnancy in gaucher disease.An 18-year old woman with type I gaucher disease and two uncomplicated pregnancies is described. Although she experienced one miscarriage and pregnancy was associated with exaggeration of the clinical symptoms, leading to the diagnosis of the disorder, both her 2nd and 3rd pregnancies were uneventful and deterioration of her clinical situation was not observed. The issue of criteria for risk assessment in pregnancy of type I gaucher disease patients is addressed.- - - - - - - - - - ranking = 6keywords = disease (Clic here for more details about this article) |
10/408. enzyme therapy in gaucher disease type 2: an autopsy case.A Japanese patient with gaucher disease type 2 was treated with enzyme therapy, alglucerase, from 7 to 22 months of age. Whereas hematologic parameters were normalized and hepatosplenomegaly was alleviated, no improvement in neurologic symptoms occurred, and the patient died of respiratory failure at age 22 months. Postmortem examination revealed massive intra-alveolar infiltration of Gaucher cells in lungs and in the central nervous system, i.e., the presence of Gaucher cells in the perivascular Virchow-Robins spaces in the cortex and deep white matter and extensive lamilar necrosis with reactive proliferation of blood vessels and macrophage infiltration of the cerebral cortex. It is suggested that enzyme therapy, with thus far recommended dose, does not prevent long-term respiratory and central nervous system involvement in severe varients of Gaucher disease.- - - - - - - - - - ranking = 6keywords = disease (Clic here for more details about this article) |
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