A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hy...
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Walter de Gruyter ; 2011 |
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©2011 by Walter de Gruyter Berlin Boston |
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3 |
| Reproduktion: |
Walter de Gruyter Online Zeitschriften |
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Enthalten in: The journal of pediatric endocrinology and metabolism - Berlin [u.a.] : de Gruyter, 1985, 24(2011), 5-6 vom: 08. Juni, Seite 381-383 |
| Übergeordnetes Werk: |
volume:24 ; year:2011 ; number:5-6 ; day:08 ; month:06 ; pages:381-383 ; extent:3 |
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| DOI / URN: |
10.1515/jpem.2011.001 |
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NLEJ247129356 |
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| 520 | |a Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation. | ||
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10.1515/jpem.2011.001 doi artikel_Grundlieferung.pp (DE-627)NLEJ247129356 DE-627 ger DE-627 rakwb A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene Walter de Gruyter 2011 3 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier ©2011 by Walter de Gruyter Berlin Boston Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation. Walter de Gruyter Online Zeitschriften Gaucher disease MTHFR mutation newborn R463H homozygous mutation Akdag, Arzu oth Oğuz, Serife Suna oth Ezgü, Fatih oth Erdeve, Omer oth Uraş, Nurdan oth Dilmen, Uğur oth Enthalten in The journal of pediatric endocrinology and metabolism Berlin [u.a.] : de Gruyter, 1985 24(2011), 5-6 vom: 08. Juni, Seite 381-383 (DE-627)NLEJ248236202 (DE-600)2583847-7 2191-0251 nnns volume:24 year:2011 number:5-6 day:08 month:06 pages:381-383 extent:3 https://doi.org/10.1515/jpem.2011.001 Deutschlandweit zugänglich GBV_USEFLAG_U ZDB-1-DGR GBV_NL_ARTICLE AR 24 2011 5-6 08 06 381-383 3 |
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10.1515/jpem.2011.001 doi artikel_Grundlieferung.pp (DE-627)NLEJ247129356 DE-627 ger DE-627 rakwb A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene Walter de Gruyter 2011 3 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier ©2011 by Walter de Gruyter Berlin Boston Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation. Walter de Gruyter Online Zeitschriften Gaucher disease MTHFR mutation newborn R463H homozygous mutation Akdag, Arzu oth Oğuz, Serife Suna oth Ezgü, Fatih oth Erdeve, Omer oth Uraş, Nurdan oth Dilmen, Uğur oth Enthalten in The journal of pediatric endocrinology and metabolism Berlin [u.a.] : de Gruyter, 1985 24(2011), 5-6 vom: 08. Juni, Seite 381-383 (DE-627)NLEJ248236202 (DE-600)2583847-7 2191-0251 nnns volume:24 year:2011 number:5-6 day:08 month:06 pages:381-383 extent:3 https://doi.org/10.1515/jpem.2011.001 Deutschlandweit zugänglich GBV_USEFLAG_U ZDB-1-DGR GBV_NL_ARTICLE AR 24 2011 5-6 08 06 381-383 3 |
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10.1515/jpem.2011.001 doi artikel_Grundlieferung.pp (DE-627)NLEJ247129356 DE-627 ger DE-627 rakwb A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene Walter de Gruyter 2011 3 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier ©2011 by Walter de Gruyter Berlin Boston Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation. Walter de Gruyter Online Zeitschriften Gaucher disease MTHFR mutation newborn R463H homozygous mutation Akdag, Arzu oth Oğuz, Serife Suna oth Ezgü, Fatih oth Erdeve, Omer oth Uraş, Nurdan oth Dilmen, Uğur oth Enthalten in The journal of pediatric endocrinology and metabolism Berlin [u.a.] : de Gruyter, 1985 24(2011), 5-6 vom: 08. Juni, Seite 381-383 (DE-627)NLEJ248236202 (DE-600)2583847-7 2191-0251 nnns volume:24 year:2011 number:5-6 day:08 month:06 pages:381-383 extent:3 https://doi.org/10.1515/jpem.2011.001 Deutschlandweit zugänglich GBV_USEFLAG_U ZDB-1-DGR GBV_NL_ARTICLE AR 24 2011 5-6 08 06 381-383 3 |
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10.1515/jpem.2011.001 doi artikel_Grundlieferung.pp (DE-627)NLEJ247129356 DE-627 ger DE-627 rakwb A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene Walter de Gruyter 2011 3 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier ©2011 by Walter de Gruyter Berlin Boston Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation. Walter de Gruyter Online Zeitschriften Gaucher disease MTHFR mutation newborn R463H homozygous mutation Akdag, Arzu oth Oğuz, Serife Suna oth Ezgü, Fatih oth Erdeve, Omer oth Uraş, Nurdan oth Dilmen, Uğur oth Enthalten in The journal of pediatric endocrinology and metabolism Berlin [u.a.] : de Gruyter, 1985 24(2011), 5-6 vom: 08. Juni, Seite 381-383 (DE-627)NLEJ248236202 (DE-600)2583847-7 2191-0251 nnns volume:24 year:2011 number:5-6 day:08 month:06 pages:381-383 extent:3 https://doi.org/10.1515/jpem.2011.001 Deutschlandweit zugänglich GBV_USEFLAG_U ZDB-1-DGR GBV_NL_ARTICLE AR 24 2011 5-6 08 06 381-383 3 |
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10.1515/jpem.2011.001 doi artikel_Grundlieferung.pp (DE-627)NLEJ247129356 DE-627 ger DE-627 rakwb A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene Walter de Gruyter 2011 3 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier ©2011 by Walter de Gruyter Berlin Boston Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation. Walter de Gruyter Online Zeitschriften Gaucher disease MTHFR mutation newborn R463H homozygous mutation Akdag, Arzu oth Oğuz, Serife Suna oth Ezgü, Fatih oth Erdeve, Omer oth Uraş, Nurdan oth Dilmen, Uğur oth Enthalten in The journal of pediatric endocrinology and metabolism Berlin [u.a.] : de Gruyter, 1985 24(2011), 5-6 vom: 08. Juni, Seite 381-383 (DE-627)NLEJ248236202 (DE-600)2583847-7 2191-0251 nnns volume:24 year:2011 number:5-6 day:08 month:06 pages:381-383 extent:3 https://doi.org/10.1515/jpem.2011.001 Deutschlandweit zugänglich GBV_USEFLAG_U ZDB-1-DGR GBV_NL_ARTICLE AR 24 2011 5-6 08 06 381-383 3 |
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a newborn case with perinatal-lethal gaucher disease due to r463h homozygosity complicated by c677t homozygosity in the mthfr gene |
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A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene |
| abstract |
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation. ©2011 by Walter de Gruyter Berlin Boston |
| abstractGer |
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation. ©2011 by Walter de Gruyter Berlin Boston |
| abstract_unstemmed |
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation. ©2011 by Walter de Gruyter Berlin Boston |
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| title_short |
A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene |
| url |
https://doi.org/10.1515/jpem.2011.001 |
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| author2 |
Akdag, Arzu Oğuz, Serife Suna Ezgü, Fatih Erdeve, Omer Uraş, Nurdan Dilmen, Uğur |
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Akdag, Arzu Oğuz, Serife Suna Ezgü, Fatih Erdeve, Omer Uraş, Nurdan Dilmen, Uğur |
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NLEJ248236202 |
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10.1515/jpem.2011.001 |
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2024-07-06T10:01:20.465Z |
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