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...
Gespeichert in:
| Hauptverfasser: | , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2013
|
| In: |
Journal of child neurology
Year: 2013, Jahrgang: 28, Heft: 5, Pages: 668-671 |
| ISSN: | 1708-8283 |
| DOI: | 10.1177/0883073812449070 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1177/0883073812449070
|
| Verfasserangaben: | Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, and Fani Athanassiadou-Piperopoulou |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1784461644 | ||
| 003 | DE-627 | ||
| 005 | 20230428063910.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 220103s2013 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1177/0883073812449070 |2 doi | |
| 035 | |a (DE-627)1784461644 | ||
| 035 | |a (DE-599)KXP1784461644 | ||
| 035 | |a (OCoLC)1341436744 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 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 |
| 264 | 1 | |c 2013 | |
| 300 | |a 4 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 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 | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of child neurology |d Thousand Oaks, Calif. : Sage, 1986 |g 28(2013), 5, Seite 668-671 |h Online-Ressource |w (DE-627)341359807 |w (DE-600)2068710-2 |w (DE-576)273882872 |x 1708-8283 |7 nnas |a An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder |
| 773 | 1 | 8 | |g volume:28 |g year:2013 |g number:5 |g pages:668-671 |g extent:4 |a An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder |
| 856 | 4 | 0 | |u https://doi.org/10.1177/0883073812449070 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20220103 | ||
| 993 | |a Article | ||
| 994 | |a 2013 | ||
| 998 | |g 1038104505 |a Haas, Dorothea |m 1038104505:Haas, Dorothea |d 910000 |d 910500 |e 910000PH1038104505 |e 910500PH1038104505 |k 0/910000/ |k 1/910000/910500/ |p 4 | ||
| 999 | |a KXP-PPN1784461644 |e 4028804698 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"physDesc":[{"extent":"4 S."}],"relHost":[{"id":{"issn":["1708-8283"],"eki":["341359807"],"zdb":["2068710-2"]},"pubHistory":["1.1986 -"],"disp":"An infant with ethylmalonic encephalopathy masquerading as a hematologic disorderJournal of child neurology","type":{"media":"Online-Ressource","bibl":"periodical"},"language":["eng"],"recId":"341359807","physDesc":[{"extent":"Online-Ressource"}],"part":{"issue":"5","pages":"668-671","text":"28(2013), 5, Seite 668-671","extent":"4","volume":"28","year":"2013"},"title":[{"title_sort":"Journal of child neurology","title":"Journal of child neurology"}],"origin":[{"dateIssuedKey":"1986","publisherPlace":"Thousand Oaks, Calif. ; Littleton, Mass. ; Littleton, Mass. ; Littleton, Mass. ; Hamilton, Ont.","publisher":"Sage ; PSG Publ. Co. ; Year Book Medical Publ. ; Mosby-Year Book Inc. ; Decker Periodicals","dateIssuedDisp":"1986-"}]}],"person":[{"given":"Evangelos","family":"Pavlou","role":"aut","display":"Pavlou, Evangelos"},{"role":"aut","display":"Augoustides-Savvopoulou, Persephone","family":"Augoustides-Savvopoulou","given":"Persephone"},{"role":"aut","display":"Gregersen, Niels","given":"Niels","family":"Gregersen"},{"given":"Dorothea","family":"Haas","display":"Haas, Dorothea","role":"aut"},{"role":"aut","display":"Gkampeta, Anastasia","family":"Gkampeta","given":"Anastasia"},{"given":"Fani","family":"Athanassiadou-Piperopoulou","display":"Athanassiadou-Piperopoulou, Fani","role":"aut"}],"title":[{"title":"An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder","title_sort":"infant with ethylmalonic encephalopathy masquerading as a hematologic disorder"}],"origin":[{"dateIssuedDisp":"2013","dateIssuedKey":"2013"}],"note":["First published July 17, 2012","Gesehen am 03.01.2022"],"id":{"eki":["1784461644"],"doi":["10.1177/0883073812449070"]},"recId":"1784461644","language":["eng"],"name":{"displayForm":["Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkampeta, and Fani Athanassiadou-Piperopoulou"]},"type":{"bibl":"article-journal","media":"Online-Ressource"}} | ||
| SRT | |a PAVLOUEVANINFANTWITH2013 | ||