A Neonate with Severe Thrombocytopenia and Radio-Ulnar Synostosis

Sola, Martha C.; Slayton, William B.; Rimsza, Lisa M.; Pérez, José Antonio Maldonado; Fuch, Deborah; Calhoun, Darlene A; Christensen, Robert D.

doi:10.1038/sj.jp.7211134

Cited by 22 publications

(9 citation statements)

References 13 publications

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“…The haematological features of CAMT were described for a number of other diseases apart from CAMT in a narrower sense: CAMT and radio-ulnar synostosis (Thompson et al, 2001;Sola et al, 2004), CAMT and corpus callosum syndrome (Khabbaze et al, 2001) and TAR syndrome. These different aetiologies of CAMT, characterised by specific physical malformations, should be taken into consideration when classifying children with congenital thrombocytopenia.…”

Section: Somatic Abnormalities In Patients With Camt Type I and Iimentioning

confidence: 99%

Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients

et al. 2005

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Summary Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare bone marrow failure syndrome characterised by isolated thrombocytopenia because of ineffective megakaryocytopoiesis at birth. In the last 10 years, we collected data from 20 patients diagnosed with CAMT based on a severe thrombocytopenia since birth and absent or markedly decreased numbers of megakaryocytes in the bone marrow. Fanconi's anaemia and thrombocytopenia absent radii syndrome were ruled out for all patients. We retrospectively compared the clinical courses, laboratory findings and treatment outcome. Development of pancytopenia was observed in 14 of the patients, only one patient presented with an isolated thrombocytopenia over a period of over 14 years. One boy died from bleeding complications. We defined two groups of patients according to the course of platelet counts during the first year of life, which also differed in the course of development of pancytopenia. Physical anomalies in addition to haematopoiesis were found in a number of patients: two children presented with cardiac defects, six with growth abnormalities, and four with retardation of psychomotor development. Fifteen patients were treated with haematopoietic stem cell transplantation, four of whom died of transplantation‐related events.

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Section: Somatic Abnormalities In Patients With Camt Type I and Iimentioning

confidence: 99%

Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients

et al. 2005

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“…3 She had no obvious malformations. She had scattered petechiae on her upper chest, but no other rash, ecchymosis, organomegaly, or jaundice.…”

Section: Case Reportmentioning

confidence: 97%

An Unusual Case of Severe Neonatal Thrombocytopenia

Barney

Sola²,

Christensen³

2007

Advances in Neonatal Care

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Neonatal alloimmune thrombocytopenia (NAIT) occurs when maternal antibodies are directed against antigens on fetal and paternal but not maternal platelets. Most cases of NAIT arise when platelets of the father (and the fetus) express the human platelet antigen (HPA)1a and the mother's platelets expresses HPA-1b. A female patient presented with congenital severe thrombocytopenia and received 4 platelet transfusions, on days 2, 7, 16, and 28. This appeared to be a case of NAIT; however, extensive serologic evaluation by 2 reference laboratories failed to reveal the offending platelet antigen. Consistent with NAIT, the condition resolved by 6 weeks of age. By patient day of life 42, the platelet count had increased without additional need for transfusions, and by 16 weeks, the patient had a completely normal platelet count of 437,000/microL. The patient's platelet count remains normal at a 2-year follow-up. This case is reported as an instructive atypical case of NAIT, in which the relevant platelet antigen could not be identified.

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“…604498) [9,11], while those with forearm anomalies are likely to have either with amegakaryocytic thrombocytopenia with radioulnar synostosis (MIM No. 605432) [12] or thrombocytopenia absent radius syndrome (MIM No. 274000) [13].…”

Section: Discussionmentioning

confidence: 99%

A de novo T73I Mutation in <b><i>PTPN11</i></b> in a Neonate with Severe and Prolonged Congenital Thrombocytopenia and Noonan Syndrome

et al. 2013

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We observed a neonate with severe congenital thrombocytopenia and features of Noonan syndrome where evaluations were negative for immune-mediated thrombocytopenia, congenital infections, and Fanconi anemia. The marrow findings and a significantly elevated plasma thrombopoietin (Tpo) level were consistent with congenital amegakaryocytic thrombocytopenia; we sought a genetic mutation that could explain this phenotype. No mutations were identified in c-MPL (the Tpo receptor gene). Microarray analysis of peripheral blood did not reveal an abnormality. DNA sequencing of the PTPN11 gene showed a heterozygous C>T nucleotide substitution in exon 3 (c.218C>T) predicted to result in a threonine-to-isoleucine change at residue 73 (T73I). A 6-week trial of eltrombopag (an agonist of the Tpo receptor) failed to increase the platelet count. We propose this specific PTPN11 mutation results in abnormalities of the protein product SHP-2, which, because of its role in signal transduction, results in severe congenital thrombocytopenia refractory to c-MPL agonists.

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A Neonate with Severe Thrombocytopenia and Radio-Ulnar Synostosis

Cited by 22 publications

References 13 publications

Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients

Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients

An Unusual Case of Severe Neonatal Thrombocytopenia

A de novo T73I Mutation in <b><i>PTPN11</i></b> in a Neonate with Severe and Prolonged Congenital Thrombocytopenia and Noonan Syndrome

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