{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T21:15:39Z","timestamp":1776978939056,"version":"3.51.4"},"reference-count":18,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hematology Reports"],"abstract":"<jats:p>We report a case of paroxysmal nocturnal hemoglobinuria (PNH) in a 14 year-old girl presenting a cerebral arterial thrombosis. The initial diagnosis was carential anemia due to menarche following identification of slight macrocytic anemia, leucopenia and mild thrombocytopenia at routine blood analysis. The child was eventually referred to a children\u2019s hospital after the onset of progressive fatigue, anorexia and paleness. Severe anemia (hemoglobin 6 g\/dL) with negative Coombs test, mild leucopenia (white blood cells 4.9 \u00d7 109\/L) and thrombocytopenia (platelets 97 \u00d7 109\/L) and high values of lactate dehydrogenase (2855 U\/L) were identified; a packed red cells transfusion was administered. Her condition worsened and she subsequently presented complete right hemiplegia, aphasia and coma; magnetic resonance imaging revealed a massive ischemic lesion. A diagnosis of PNH was eventually made following high sensitivity flow cytometry, which identified a PNH clone (CD66b negative equal to 93.7% of granulocytes). Fast recovery from neurologic and hematological problems occurred in response to anticoagulant therapy and intravenous therapy with eculizumab. We are convinced that PNH should be included in the differential diagnosis of children presenting with cytopenia.<\/jats:p>","DOI":"10.4081\/hr.2017.7012","type":"journal-article","created":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T09:52:17Z","timestamp":1496310737000},"page":"7012","source":"Crossref","is-referenced-by-count":2,"title":["Cerebral Stroke in a Teenage Girl with Paroxysmal Nocturnal Hemoglobinuria"],"prefix":"10.3390","volume":"9","author":[{"given":"Francesco","family":"Gervasi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"D\u2019Amelio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonino","family":"Trizzino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrizia","family":"Ferraro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delia","family":"Russo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Santangelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Cardella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Trizzino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Floriana","family":"Di Marco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piero","family":"Farruggia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2017,6,1]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/0092-8674(93)90250-T","article-title":"Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria","volume":"73","author":"Takeda","year":"1993","journal-title":"Cell"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1126\/science.7680492","article-title":"The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis","volume":"259","author":"Miyata","year":"1993","journal-title":"Science"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1056\/NEJM199401273300404","article-title":"Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria","volume":"330","author":"Miyata","year":"1994","journal-title":"N Engl J Med"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/j.1460-2075.1994.tb06240.x","article-title":"Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene","volume":"13","author":"Bessler","year":"1994","journal-title":"EMBO J"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1084\/jem.160.5.1558","article-title":"Inhibition of complement activation on the surface of cells after incorporation of decay-accelerating factor (DAF) into their membranes","volume":"160","author":"Medof","year":"1984","journal-title":"J Exp Med"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"3478","DOI":"10.4049\/jimmunol.144.9.3478","article-title":"The complement-inhibitory activity of CD59 resides in its capacity to block incorporation of C9 into membrane C5b-9","volume":"144","author":"Rollins","year":"1990","journal-title":"J Immunol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1001\/jama.293.13.1653","article-title":"The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease","volume":"293","author":"Rother","year":"2005","journal-title":"JAMA"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1056\/NEJM199110033251403","article-title":"Paroxysmal nocturnal hemoglobinuria with onset in childhood and adolescence","volume":"325","author":"Ware","year":"1991","journal-title":"N Engl J Med"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1007\/s12098-008-0111-9","article-title":"Paroxysmal nocturnal hemoglobinuria in childhood and adolescence. 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