An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder
A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Pavlou, Evangelos [verfasserIn] Augoustides-Savvopoulou, Persephone [verfasserIn] Gregersen, Niels [verfasserIn] Haas, Dorothea - 1965- [verfasserIn] Gkampeta, Anastasia [verfasserIn] Athanassiadou-Piperopoulou, Fani [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2013 |
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| Schlagwörter: |
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| Anmerkung: |
First published July 17, 2012 Gesehen am 03.01.2022 |
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| Umfang: |
4 |
| Übergeordnetes Werk: |
Enthalten in: Journal of child neurology - Thousand Oaks, Calif. : Sage, 1986, 28(2013), 5, Seite 668-671 |
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| Übergeordnetes Werk: |
volume:28 ; year:2013 ; number:5 ; pages:668-671 ; extent:4 |
| Links: |
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| DOI / URN: |
10.1177/0883073812449070 |
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| Katalog-ID: |
1784461644 |
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| 100 | 1 | |a Pavlou, Evangelos |e verfasserin |0 (DE-588)1238813488 |0 (DE-627)1766534716 |4 aut | |
| 245 | 1 | 3 | |a An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder |c Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, and Fani Athanassiadou-Piperopoulou |
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| 500 | |a First published July 17, 2012 | ||
| 500 | |a Gesehen am 03.01.2022 | ||
| 520 | |a A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. | ||
| 650 | 4 | |a ethylmalonic encephalopathy 1 gene | |
| 650 | 4 | |a hypotonia | |
| 650 | 4 | |a leukocytosis | |
| 650 | 4 | |a thrombocytosis | |
| 700 | 1 | |a Augoustides-Savvopoulou, Persephone |e verfasserin |4 aut | |
| 700 | 1 | |a Gregersen, Niels |e verfasserin |4 aut | |
| 700 | 1 | |a Haas, Dorothea |d 1965- |e verfasserin |0 (DE-588)1038104505 |0 (DE-627)756671280 |0 (DE-576)392125196 |4 aut | |
| 700 | 1 | |a Gkampeta, Anastasia |e verfasserin |4 aut | |
| 700 | 1 | |a Athanassiadou-Piperopoulou, Fani |e verfasserin |4 aut | |
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10.1177/0883073812449070 doi (DE-627)1784461644 (DE-599)KXP1784461644 (OCoLC)1341436744 DE-627 ger DE-627 rda eng Pavlou, Evangelos verfasserin (DE-588)1238813488 (DE-627)1766534716 aut An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, and Fani Athanassiadou-Piperopoulou 2013 4 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier First published July 17, 2012 Gesehen am 03.01.2022 A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. ethylmalonic encephalopathy 1 gene hypotonia leukocytosis thrombocytosis Augoustides-Savvopoulou, Persephone verfasserin aut Gregersen, Niels verfasserin aut Haas, Dorothea 1965- verfasserin (DE-588)1038104505 (DE-627)756671280 (DE-576)392125196 aut Gkampeta, Anastasia verfasserin aut Athanassiadou-Piperopoulou, Fani verfasserin aut Enthalten in Journal of child neurology Thousand Oaks, Calif. : Sage, 1986 28(2013), 5, Seite 668-671 Online-Ressource (DE-627)341359807 (DE-600)2068710-2 (DE-576)273882872 1708-8283 nnns volume:28 year:2013 number:5 pages:668-671 extent:4 https://doi.org/10.1177/0883073812449070 Verlag Resolving-System lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_121 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_165 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_374 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2036 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2043 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2093 GBV_ILN_2098 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2125 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2145 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2158 GBV_ILN_2190 GBV_ILN_2193 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2704 GBV_ILN_2707 GBV_ILN_2889 GBV_ILN_2890 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4346 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_4753 AR 28 2013 5 668-671 4 2013 01 DE-16-250 4028804698 00 --%%-- --%%-- --%%-- --%%-- l01 03-01-22 2013 01 DE-16-250 00 s hd2013 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_6 2013 01 DE-16-250 03 s s_4 2013 01 DE-16-250 04 p (DE-627)1484220749 Haas, Dorothea 2013 01 DE-16-250 04 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_4 |
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10.1177/0883073812449070 doi (DE-627)1784461644 (DE-599)KXP1784461644 (OCoLC)1341436744 DE-627 ger DE-627 rda eng Pavlou, Evangelos verfasserin (DE-588)1238813488 (DE-627)1766534716 aut An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, and Fani Athanassiadou-Piperopoulou 2013 4 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier First published July 17, 2012 Gesehen am 03.01.2022 A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. ethylmalonic encephalopathy 1 gene hypotonia leukocytosis thrombocytosis Augoustides-Savvopoulou, Persephone verfasserin aut Gregersen, Niels verfasserin aut Haas, Dorothea 1965- verfasserin (DE-588)1038104505 (DE-627)756671280 (DE-576)392125196 aut Gkampeta, Anastasia verfasserin aut Athanassiadou-Piperopoulou, Fani verfasserin aut Enthalten in Journal of child neurology Thousand Oaks, Calif. : Sage, 1986 28(2013), 5, Seite 668-671 Online-Ressource (DE-627)341359807 (DE-600)2068710-2 (DE-576)273882872 1708-8283 nnns volume:28 year:2013 number:5 pages:668-671 extent:4 https://doi.org/10.1177/0883073812449070 Verlag Resolving-System lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_121 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_165 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_374 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2036 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2043 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2093 GBV_ILN_2098 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2125 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2145 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2158 GBV_ILN_2190 GBV_ILN_2193 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2704 GBV_ILN_2707 GBV_ILN_2889 GBV_ILN_2890 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4346 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_4753 AR 28 2013 5 668-671 4 2013 01 DE-16-250 4028804698 00 --%%-- --%%-- --%%-- --%%-- l01 03-01-22 2013 01 DE-16-250 00 s hd2013 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_6 2013 01 DE-16-250 03 s s_4 2013 01 DE-16-250 04 p (DE-627)1484220749 Haas, Dorothea 2013 01 DE-16-250 04 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_4 |
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10.1177/0883073812449070 doi (DE-627)1784461644 (DE-599)KXP1784461644 (OCoLC)1341436744 DE-627 ger DE-627 rda eng Pavlou, Evangelos verfasserin (DE-588)1238813488 (DE-627)1766534716 aut An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, and Fani Athanassiadou-Piperopoulou 2013 4 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier First published July 17, 2012 Gesehen am 03.01.2022 A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. ethylmalonic encephalopathy 1 gene hypotonia leukocytosis thrombocytosis Augoustides-Savvopoulou, Persephone verfasserin aut Gregersen, Niels verfasserin aut Haas, Dorothea 1965- verfasserin (DE-588)1038104505 (DE-627)756671280 (DE-576)392125196 aut Gkampeta, Anastasia verfasserin aut Athanassiadou-Piperopoulou, Fani verfasserin aut Enthalten in Journal of child neurology Thousand Oaks, Calif. : Sage, 1986 28(2013), 5, Seite 668-671 Online-Ressource (DE-627)341359807 (DE-600)2068710-2 (DE-576)273882872 1708-8283 nnns volume:28 year:2013 number:5 pages:668-671 extent:4 https://doi.org/10.1177/0883073812449070 Verlag Resolving-System lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_121 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_165 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_374 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2036 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2043 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2093 GBV_ILN_2098 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2125 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2145 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2158 GBV_ILN_2190 GBV_ILN_2193 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2704 GBV_ILN_2707 GBV_ILN_2889 GBV_ILN_2890 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4346 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_4753 AR 28 2013 5 668-671 4 2013 01 DE-16-250 4028804698 00 --%%-- --%%-- --%%-- --%%-- l01 03-01-22 2013 01 DE-16-250 00 s hd2013 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_6 2013 01 DE-16-250 03 s s_4 2013 01 DE-16-250 04 p (DE-627)1484220749 Haas, Dorothea 2013 01 DE-16-250 04 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_4 |
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10.1177/0883073812449070 doi (DE-627)1784461644 (DE-599)KXP1784461644 (OCoLC)1341436744 DE-627 ger DE-627 rda eng Pavlou, Evangelos verfasserin (DE-588)1238813488 (DE-627)1766534716 aut An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, and Fani Athanassiadou-Piperopoulou 2013 4 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier First published July 17, 2012 Gesehen am 03.01.2022 A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. ethylmalonic encephalopathy 1 gene hypotonia leukocytosis thrombocytosis Augoustides-Savvopoulou, Persephone verfasserin aut Gregersen, Niels verfasserin aut Haas, Dorothea 1965- verfasserin (DE-588)1038104505 (DE-627)756671280 (DE-576)392125196 aut Gkampeta, Anastasia verfasserin aut Athanassiadou-Piperopoulou, Fani verfasserin aut Enthalten in Journal of child neurology Thousand Oaks, Calif. : Sage, 1986 28(2013), 5, Seite 668-671 Online-Ressource (DE-627)341359807 (DE-600)2068710-2 (DE-576)273882872 1708-8283 nnns volume:28 year:2013 number:5 pages:668-671 extent:4 https://doi.org/10.1177/0883073812449070 Verlag Resolving-System lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_121 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_165 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_374 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2036 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2043 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2093 GBV_ILN_2098 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2125 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2145 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2158 GBV_ILN_2190 GBV_ILN_2193 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2704 GBV_ILN_2707 GBV_ILN_2889 GBV_ILN_2890 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4346 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_4753 AR 28 2013 5 668-671 4 2013 01 DE-16-250 4028804698 00 --%%-- --%%-- --%%-- --%%-- l01 03-01-22 2013 01 DE-16-250 00 s hd2013 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_6 2013 01 DE-16-250 03 s s_4 2013 01 DE-16-250 04 p (DE-627)1484220749 Haas, Dorothea 2013 01 DE-16-250 04 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_4 |
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An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder |
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An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, and Fani Athanassiadou-Piperopoulou |
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infant with ethylmalonic encephalopathy masquerading as a hematologic disorder |
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An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder |
| abstract |
A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. First published July 17, 2012 Gesehen am 03.01.2022 |
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A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. First published July 17, 2012 Gesehen am 03.01.2022 |
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A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. First published July 17, 2012 Gesehen am 03.01.2022 |
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| title_short |
An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder |
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