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Congenital thrombocytopenia

Vinay Vamadev Kulkarni, Sourabh Dutta, Venkataseshan Sundaram, Shiv Sajan Saini
OBJECTIVES: To evaluate whether preterm thrombocytopenia within 24 hours of birth is associated with delayed closure of patent ductus arteriosus (PDA) and higher proportion of hemodynamically significant PDA (Hs-PDA). METHODS: Neonates (gestation 26(0/7)-33(6/7) weeks, age <24 hours) with known platelet count and PDA on echocardiogram were prospectively enrolled. Asphyxia, congenital infections, structural heart disease, major malformations and clinical sepsis were exclusions...
September 28, 2016: Pediatrics
Dimitri Poddighe, Elena Virginia, Marco Nedbal, Annarosa Soresina, Paola Bruni
A male newborn developed a post-natal cytomegalovirus (CMV) infection, arising in the clinical setting of congenital thrombocytopenia, which was diagnosed as being alloimmune. The evidence of active CMV infection in an infant showing slow-resolution lower airways infection, persistent neonatal and low platelet volume thrombocytopenia, and diffuse eczema (associated to very high levels of serum immunoglobulin E) led to the diagnosis of Wiskott-Aldrich syndrome (WAS) before the third month of life, despite the presence of several confounding clinical factors...
September 1, 2016: Le Infezioni in Medicina
Marie Scully
Thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS) are thrombotic microangiopathies (TMAs) that can present in pregnancy. The presentation can be with typical microangiopathic features and thrombocytopenia, but there is also a significant risk of in-utero fetal loss. TTP presents most commonly in the third trimester and aHUS in the postpartum period. On presumptive diagnosis, plasma exchange should be started and ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) activity measured...
September 20, 2016: Seminars in Thrombosis and Hemostasis
Noriko Mitsuiki, Keita Tamanuki, Kenshi Sei, Jun Ito, Aiko Kishi, Kenji Kobayashi, Yoshiho Hatai, Masayuki Nagasawa
We report a neonate of severe cytomegalovirus (CMV) infection who presented vomiting, severe thrombocytopenia and thrombotic microangiopathy (TMA). He showed occasional vomiting at 3 weeks of age and visited us with systemic petechiae at 29 days old. Platelet was markedly decreased to 18,000/μL and fragmented red blood cells were increased in the peripheral blood. Intravenous ganciclovir (GCV) administration was started at 35 days old after detection of CMV in the peripheral blood. His normal values of T-cell receptor excision circles (TREC) and signal joint kappa-deleting recombination excision circles (sjKREC) excluded the possibility of severe immunodeficiency...
September 11, 2016: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
Rachel L Bounds, Joseph Kuebler, Jill M Cholette, George M Alfieris, Sitaram M Emani, Carol A Wittlieb-Weber
A 2-month-old male with dysmorphic facies, neonatal thrombocytopenia, left congenital cataract, and long bone abnormalities became hypotensive with ST depression on induction of anesthesia for congenital cataract repair. Echocardiogram demonstrated decreased left ventricular function (ejection fraction 46%), mild mitral valve regurgitation (MR), and regional wall motion abnormalities. The left coronary artery could not be visualized. Subsequent cardiac catheterization confirmed atresia of the left main coronary artery...
September 12, 2016: World Journal for Pediatric & Congenital Heart Surgery
Hideaki Nakajima
Induced pluripotent stem cells (iPSCs) are not only a valuable resource for regenerative medicine, but also a promising tool for disease modeling and drug discovery. Patient-specific iPSCs harboring disease-specific mutations are extremely useful for investigating disease mechanisms and novel treatment approaches. In the field of hematology, attempts to establish iPSCs from tumor cells such as those of leukemia or myelodysplastic syndrome (MDS) were largely unsuccessful because proper reprogramming processes were hampered by their extensive genetic alterations...
August 2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Gabriella Martillotti, Francoise Rypens, Michele David, Nancy Catalfamo, Johanne Dubé, Catherine Taillefer, Christian Lachance, François Audibert
INTRODUCTION: Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a rare condition that may lead to intracerebral haemorrhage (ICH) in the fetus or neonate. Platelet alloimmunisation causing FNAIT has been described in association with fetal cerebral ventriculomegaly (VM), presumably due to subclinical ICH. The objective of this study was to assess the association between fetal VM and platelet alloimmunisation. METHODS: This is a case series of pregnancies with fetal VM screened for platelet alloantibodies from 2003 to 2012...
September 7, 2016: Fetal Diagnosis and Therapy
Fredrick Dapaah-Siakwan, Carleene Bryan, Lashawndra S Walker, Teresa Del Moral
INTRODUCTION: Splenic hemangiomas (SHs) are the most common benign neoplasms of the spleen. However, they are rare in the newborn period. We present an extremely rare case of congenital SH complicated by Kasabach-Merritt syndrome. CASE PRESENTATION: A 2.93 kg male infant was delivered at term with a prenatal diagnosis of a left infrarenal mass diagnosed by ultrasound at 35 weeks of gestation. Magnetic resonance imaging demonstrated a well-defined splenic mass with multiple flow voids and scattered areas of high intensity suggestive of hemorrhage...
August 26, 2016: Journal of Pediatric Hematology/oncology
Chana L Glasser, Joseph A Picoraro, Preti Jain, Sivan Kinberg, Evelyn Rustia, Kara Gross Margolis, Kwame Anyane-Yeboa, Alejandro D Iglesias, Nancy S Green
Severe congenital neutropenia type IV (SCN IV) is a syndrome of severe neutropenia, cardiac and urogenital defects, prominent superficial veins, facial dysmorphism, failure to thrive (FTT), and intermittent thrombocytopenia, caused by a glucose-6-phosphatase catalytic subunit 3 (G6PC3) gene mutation. SCN IV has been linked to glycogen storage disease type 1b as both disorders involve disruption of the glucose-6-phosphatase/glucose-6-phosphate transporter complex, leading to arrested neutrophil maturation. Emerging evidence suggests that neutrophil function plays an important role in intestinal integrity, evidenced by inflammatory bowel disease in certain neutropenic patients...
October 2016: Journal of Pediatric Hematology/oncology
Etsuro Ito, Tsutomu Toki, Kiminori Terui
Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders characterized by bone marrow failure, congenital anomalies, and an increased risk of malignancies. Diagnosis is often difficult due to the wide variety of clinical expressions. The representative diseases are Diamond Blackfan anemia (DBA), Fanconi anemia (FA), congenital sideroblastic anemia (CSA), congenital dyserhthropoietic anemia, Shwachman Diamond syndrome, and dyskeratosis congenita. Next-generation sequencing technologies have facilitated the discovery of germline mutations that cause IBMFS...
July 2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Andri Pramono, Azadeh Zahabi, Tatsuya Morishima, Dan Lan, Karl Welte, Julia Skokowa
Understanding the molecular mechanisms underlying hematopoietic differentiation of embryonic stem (ES) cells may help to ascertain the conditions for the in vitro generation of hematopoietic cells. Previously, we found that patients with congenital amegakaryocytic thrombocytopenia (CAMT), who develop pancytopenia early after birth, harbor mutations within the thrombopoietin (TPO) receptor, c-MPL. This knowledge, together with observations in vitro and in vivo, suggests that TPO/c-MPL signaling promotes early hematopoiesis...
July 2016: Annals of the New York Academy of Sciences
Tracy Funk, Young Lim, Ann M Kulungowski, Lori Prok, Timothy M Crombleholme, Keith Choate, Anna L Bruckner
IMPORTANCE: Congenital hemangiomas are uncommon benign vascular tumors that present fully formed at birth. They are rarely associated with transient hematologic abnormalities, which are typically less severe than the Kasabach-Merritt phenomenon associated with kaposiform hemangioendotheliomas. Congenital hemangiomas are typically solitary and have not been reported to occur in a multifocal, generalized pattern. OBJECTIVE: To describe a male infant born with an unusual, large vascular mass complicated by anemia, thrombocytopenia, and disseminated intravascular coagulopathy, as well as innumerable small vascular papules in a generalized cutaneous distribution...
September 1, 2016: JAMA Dermatology
Monika Modrzejewska, Jacek Patalan, Urszula Kulik, Maria Beata Czeszyńska
The aim of this case report was to present extremely severe, ophthalmic complications in form of rare, congenital toxoplasmatic bilateral defect of eye-balls concomitant with advanced uveitis, microphthalmia and eye-multistructural developmental abnormalities leading to irreversible visual disability. The ocular diagnosis was confirmed in Ret-Cam II and ultrasonography and it was accompanied with congenital multiorgan lesions including hepato-splenomegaly, thrombocytopenia, leukomalacia, hydrocephalus and ventriculomegaly with neurological symptoms...
2016: Ginekologia Polska
Deniz Aslan
Inherited giant platelet disorders are a subgroup of congenital thrombocytopenias characterized by decreased platelet counts along with macroplatelets and variable bleeding symptoms. Harris platelet syndrome, a newly described rare entity, is a subtype of inherited giant platelet disorders and is characterized by mild-to-severe thrombocytopenia, macroplatelets, and no bleeding manifestations. This entity was observed incidentally in healthy blood donors from India in the early 2000s, and the reported cases to date have without exception originated from the same region of the Indian subcontinent...
June 13, 2016: Journal of Pediatric Hematology/oncology
Fabio Araujo Motta, Libera Maria Dalla-Costa, Marisol Dominguez Muro, Andrea Lenzi, Gledson Luiz Picharski, Marion Burger
BACKGROUND: Candida species are the primary cause of invasive fungal infection in hospitalized children. There are few data on risk factors for postoperative candidemia in pediatric patients with congenital heart defects. This study aimed to identify risk factors for candidemia in patients with congenital heart defects who underwent cardiac surgery. METHODS: This was a case-control study conducted in patients admitted to a pediatric cardiology intensive care unit from January 2006 to December 2013...
June 10, 2016: Pediatric Infectious Disease Journal
Agustina Lanöel, Adriana Natalia Torres Huamani, Aurora Feliú, María Josefina Sala, Mariana Alvarez, Andrea Bettina Cervini
Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a rare disease characterized by congenital and progressive vascular lesions of the skin and gastrointestinal tract that may be associated with thrombocytopenia and possibly life-threatening gastrointestinal bleeding. Reports published on the disease and treatment strategies are scarce. We present two cases of MLT treated with sirolimus.
July 2016: Pediatric Dermatology
Toshiki Takenouchi, Kiyokuni Miura, Tomoko Uehara, Seiji Mizuno, Kenjiro Kosaki
A recent study of exome analyses in 109 patients with undiagnosed diseases included a 5-year-old girl with intellectual disability and multiple congenital anomalies, who had an apparently de novo frameshift mutation in SON. However, the combination of the truncating mutation in SON and the phenotype has not been reproduced until date, and it remains unclear if this combination represents a distinctive disease entity. Here we report an additional male with intellectual disability, congenital heart disease, distinctive facial features with curly hair and protruding ears, and long slender extremities, and hyperextensible joints...
October 2016: American Journal of Medical Genetics. Part A
Allison H Scotch, Elika Hoss, Robert Orenstein, Adriane I Budavari
Severe adverse events associated with varicella-zoster virus (VZV) vaccination are rare. The authors describe a 53-year-old woman with no known immunodeficiency who presented with diffuse pruritic rash 17 days after receiving the varicella virus vaccine live. She had a low level of white blood cells and received a diagnosis of thrombocytopenia with elevated aminotransferase levels. Punch biopsy demonstrated positive VZV immunostaining and viral culture positive for VZV. After treatment with acyclovir, her rash improved and her white blood cell and platelet counts returned to normal...
June 1, 2016: Journal of the American Osteopathic Association
Juliana Perez Botero, Dong Chen, Rong He, David S Viswanatha, Julie A Majerus, Lea M Coon, Phuong L Nguyen, Karen K Reichard, Jennifer L Oliveira, Ayalew Tefferi, Naseema Gangat, Rajiv K Pruthi, Mrinal M Patnaik
The clinical and laboratory characteristics of patients with non-syndromic, autosomal dominant thrombocytopenia secondary to germ line ANKRD26 mutations appear to be heterogeneous. Except for a targeted molecular genotyping approach, there is no distinct clinical or laboratory phenotype that has been specifically associated with this particular gene mutation. Such heterogeneity could be due to variations in mutation and genetic background in different families. To understand the phenotypic heterogeneity, we thoroughly studied one affected family using the International Society for Thrombosis and Haemostasis bleeding assessment tool and both clinically validated standard and esoteric platelet testing (electron microscopy (EM) and flow cytometry)...
April 28, 2016: Platelets
Özcan Bör, Ayse B Turhan, Coskun Yarar
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive disorder characterized by thrombocytopenia from failure of megakaryopoiesis. The genetic background of CAMT is mutations in the myeloproliferative ligand gene encoding the thrombopoietin receptor. In our patient with CAMT, we identified homozygous missense mutations [c.407C>T (p.P136L)]. The association of CAMT and central nervous system (CNS) abnormalities is uncommon. Here we present a case in which CAMT appears linked to CNS abnormalities (encephalomalacia, global atrophy) and developmental delay related with intrauterine intracranial hemorrhage...
April 20, 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
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