Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations

In this report, an atypical case of Noonan syndrome (NS) associated with sarcomeric hypertrophic cardiomyopathy (HCM) in a 33-year-old patient was described. Genetic testing revealed two different disease-causing mutations: a mutation in the PTPN11 gene, explaining NS, and a mutation in the MYBPC3 gene, known to be associated with HCM. This case exemplifies the challenge in achieving a definite etiological diagnosis in patients with HCM and the need to exclude other diseases mimicking this condition (genocopies or phenocopies). Compound heterozygous mutations are rare but possible in HCM patients. In conclusion, this study highlights the important role of genetic testing as a necessary diagnostic tool for performing a definitive etiological diagnosis of HCM.

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IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene

HORMONES ◽

10.1007/bf03401289 ◽

2013 ◽

Vol 12 (1) ◽

pp. 86-92 ◽

Cited By ~ 9

Author(s):

Silvano Bertelloni ◽

Giampiero I. Baroncelli ◽

Eleonora Dati ◽

Silvia Ghione ◽

Fulvia Baldinotti ◽

...

Keyword(s):

Noonan Syndrome ◽

Ptpn11 Gene ◽

Prepubertal Children ◽

Igf I ◽

Generation Test

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Central giant cell lesions with an unusual behavior in patient with Noonan syndrome: A case report with 8-year follow-up

Research Society and Development ◽

10.33448/rsd-v10i1.11563 ◽

2021 ◽

Vol 10 (1) ◽

pp. e13510111563

Author(s):

Gleysson Matias de Assis ◽

Marcelo Leite Machado da Silveira ◽

José Wittor de Macêdo Santos ◽

Humberto Pereira Chaves Neto ◽

Lucas Melo da Costa ◽

...

Keyword(s):

Giant Cell ◽

Noonan Syndrome ◽

Pulmonary Stenosis ◽

Clinical Information ◽

Patient Discharge ◽

Blood Analysis ◽

Unusual Behavior ◽

Ptpn11 Gene ◽

Mandibular Injuries

This study describes a patient with Noonan syndrome affected by multiple Central Giant Cell Lesions (CGCL) in jaws. The lesions presented an unusual behavior since there was no regression size after puberty. The syndrome was diagnosed by collecting clinical information, represented by ocular hypertelorism, low insertion of ears, pulmonary stenosis, cryptorchidism, cardiac abnormalities, short stature, multiple CGCL in the jaws, and blood analysis that found a mutation of the PTPN11 gene. The treatment consisted of systemic calcitonin for a period of 14 months and three surgical procedures at distinct moments. The patient is currently with 20 years and in the eighth-year of follow-up. Although he presented an improvement in deformity, radiological findings showed remodeling without resolution of mandibular injuries, making it clear that injuries will did not always regress after puberty and not confirm previously publications in the literature. We therefore advocate a larger time of follow-up before patient discharge in these cases.

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Gene Mutations in Noonan Syndrome: Implications for Responsiveness to Growth Hormone Therapy

Journal of Pediatric Nursing ◽

10.1016/j.pedn.2009.02.015 ◽

2009 ◽

Vol 24 (3) ◽

pp. 238-239

Author(s):

Giuseppe Piccoli ◽

Isabel Couto ◽

Deanna Maynard ◽

John Germak

Keyword(s):

Growth Hormone ◽

Hormone Therapy ◽

Noonan Syndrome ◽

Growth Hormone Therapy ◽

Gene Mutations

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

Journal of International Medical Research ◽

10.1177/0300060520936445 ◽

2020 ◽

Vol 48 (8) ◽

pp. 030006052093644

Author(s):

Meng Li ◽

Jinghui Zhang ◽

Nianzheng Sun

Keyword(s):

Platelet Count ◽

Case Report ◽

Noonan Syndrome ◽

Immune Thrombocytopenia ◽

Perinatal Asphyxia ◽

Juvenile Myelomonocytic Leukemia ◽

Normal Range ◽

Ptpn11 Gene ◽

Alloimmune Thrombocytopenia ◽

Myelomonocytic Leukemia

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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