Abstract：
BACKGROUND:[corrected] Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918). Deficiency of glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte macrophage system. Lipid-laden cells, known as Gaucher cells, lead to hepatosplenomegaly, multiorgan dysfunction and sceletal deterioration. CASE REPORT:We reported a 36-year-old male and a 42-year-old female admitted for the clinical examination due to hepatosplenomegaly. The Clinical diagnosis was provided by a bone marrow examination and demonstration of the characteristic Gaucher cells. Both of the patients had type I Gaucher's disease (a mild form of the disease), wich is distiguished by the lack of central nervous system involvement and striking phenotypic variation. We had not a possibility of testing beta-glucocerebrosidase activity in peripheral leukocytes (a definitive diagnosis of Gaucher's disease). Also, enzyme replacement therapy had not been available in our country. CONCLUSION:Althoungh rare, Gaucher's disease is also present in our country. Both molecular genetic, and the enzyme beta-glucocerebrosidase activity testing in peripheral leukocytes are needed for the definitive diagnosis of this disease.
journal_name
Vojnosanit Pregljournal_title
Vojnosanitetski pregledauthors
Dokić Mdoi
10.2298/vsp0612039dsubject
Has Abstractpub_date
2006-12-01 00:00:00pages
1039-44issue
12eissn
0042-8450issn
2406-0720journal_volume
63pub_type
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更新日期：2008-11-01 00:00:00
abstract：:Epilepsy is chronic, multietiologic disease of the cerebrum, with different clinical features and with frequent occurrence of emotional and psychic disorders. In this report, we presented the case of female patient, 16 years old, examined in our Clinic twice. The diagnosis of epilepsy was established on the basis of t...
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更新日期：1998-05-01 00:00:00
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更新日期：2016-03-01 00:00:00
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更新日期：2003-09-01 00:00:00
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更新日期：2013-07-01 00:00:00
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更新日期：1993-11-01 00:00:00
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更新日期：2007-06-01 00:00:00
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更新日期：2008-04-01 00:00:00
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更新日期：2014-07-01 00:00:00
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更新日期：1996-01-01 00:00:00
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abstract：BACKGROUND/AIM:Congenital absence of vagina is known from ancient times of Greek. According to the literature data, incidence is 1/4 000 to 1/20 000. Treatment of this anomaly includes non-operative and operative procedures. McIndoe procedure uses split skin graft by Thiersch. The aim of this study was to establish ana...
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