Severe congenital thrombocytopaenia - first clinical manifestation of Noonan syndrome

Nunes, Paula Santos; Aguilar, Sara; Prado, Sara Noéme; Palaré, Maria João; Ferrão, Anabela; Morais, Anabela

doi:10.1136/bcr.10.2011.4940

Cited by 12 publications

(8 citation statements)

References 16 publications

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“…12 In patients with PTPN11-associated NS accompanied by thrombocytopenia, the reported mutation sites include c.218C>T and c.181G>A, both of which are in exon 3. 8,16 However, in our case, the mutation site was c.1517A>C, which is located in exon 13, and bone marrow cytology did not show dyshematopoiesis. Additionally, our proband had a good prognosis of recovered platelet levels, which could not be explained by JMML.…”

Section: Discussioncontrasting

confidence: 55%

“…Nunes et al 16 proposed that the causes of thrombocytopenia in children with NS include a reduction in megakaryocytes, early clinical features of JMML, and sequestration of platelets in an enlarged and/or myelodysplastic spleen. Our proband also had a reduced level of megakaryocytes in bone marrow, which indicated that thrombocytopenia may have been attributable to a reduction in production of megakaryocytes.…”

Section: Discussionmentioning

confidence: 99%

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Prolonged thrombocytopenia in a neonate with Noonan syndrome: a case report

Zhang

Sun

2020

J Int Med Res

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We report a case of a Chinese neonate who was diagnosed with Noonan syndrome and had persistent, self-limited thrombocytopenia. The neonate was admitted to the Neonatology Department 20 minutes after birth because of respiratory distress. From birth until 2 months of age, platelet values fluctuated between approximately 6 and 30 × 109/L. There was no intracranial hemorrhage. However, the child had a transient hypocalcemic seizure and fever. We excluded thrombocytopenia caused by perinatal asphyxia, immune thrombocytopenia, fetomaternal alloimmune thrombocytopenia, juvenile myelomonocytic leukemia, and chromosome 13, 18, and 21 trisomy syndromes. Despite treatment with anti-infective agents and transfusion of platelets and immunoglobulin, the platelet count did not return to the normal range. Genetic testing confirmed a PTPN11 gene mutation, which led to the diagnosis of Noonan syndrome. At 3 months of age, the platelet count gradually increased without intervention and returned to the normal range by 6 months. We speculate that the thrombocytopenia in this case was closely related to Noonan syndrome.

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Section: Discussioncontrasting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Prolonged thrombocytopenia in a neonate with Noonan syndrome: a case report

Zhang

Sun

2020

J Int Med Res

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“…In this case, persistence of thrombocytopenia longer than expected associated with dysmorphic facies, pulmonic valve stenosis, developmental delay, and short stature led to the diagnosis of NS. The clinical presentation of severe thrombocytopenia at birth was probably due to the association between the immune mechanism and the congenital cause [14].…”

Section: Resultsmentioning

confidence: 99%

Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome

et al. 2015

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Fetomaternal alloimmune thrombocytopenia (FMAIT) caused by maternal antibodies is the leading cause of severe neonatal thrombocytopenia. A 1-month-old Caucasian girl was referred to our Hematology Clinic for persistent thrombocytopenia diagnosed after a bleeding episode. Diagnostic tests suggested FMAIT. Mild thrombocytopenia persisted for 18 months, and subsequent findings of dysmorphic facies, short stature and mild pulmonary stenosis led to the hypothesis of Noonan syndrome (NS), which was confirmed by genetic test. Other hematological abnormalities were excluded and she had no further bleeding episodes. This case illustrates the possibility of different diagnoses with the same clinical manifestations. The persistence of thrombocytopenia longer than expected associated with typical physical features led to the diagnosis of NS.

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“…209,[220][221][222][223] Severe congenital thrombocytopaenia has been described. 224 A recent study reported frequent easy bruising and post-surgical bleeding (15-25%), platelet dysfunction (80%), and factor VII deficiency (20%). 225 Bleeding diathesis may predispose patients to spontaneous gastrointestinal or sub-arachnoid haemorrhage, which may respond to administration of recombinant factor VII.…”

Section: Noonan Syndrome and Related Disordersmentioning

confidence: 97%

“…Haematological abnormalities such as platelet dysfunction and coagulation factor deficiency are present in 30–65% of cases 209 220 – 223 Severe congenital thrombocytopaenia has been described 224 . A recent study reported frequent easy bruising and post-surgical bleeding (15–25%), platelet dysfunction (80%), and factor VII deficiency (20%) 225 .…”

Section: The Presence Of a Specific Genetic Syndrome Impacts Early Pementioning

confidence: 99%

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes

2015

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CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems. Although surgical outcomes have improved over time, these co-morbidities continue to contribute substantially to poor peri-operative mortality and morbidity outcomes. Peri-operative morbidity may have long-standing ramifications on neurodevelopment and overall health. Recognising the cardiovascular and non-cardiovascular risks associated with specific syndromic diagnoses will facilitate expectant management, early detection of clinical problems, and improved outcomes – for example, the development of syndrome-based protocols for peri-operative evaluation and prophylactic actions may improve outcomes for the more frequently encountered syndromes such as 22q11 deletion syndrome.

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Severe congenital thrombocytopaenia - first clinical manifestation of Noonan syndrome

Cited by 12 publications

References 16 publications

Prolonged thrombocytopenia in a neonate with Noonan syndrome: a case report

Prolonged thrombocytopenia in a neonate with Noonan syndrome: a case report

Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes

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