Noonan's syndrome and autoimmune thyroiditis

Vesterhus, Per; Aarskog, Dagfinn

doi:10.1016/s0022-3476(73)80482-2

Cited by 29 publications

(15 citation statements)

References 18 publications

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“…The cause of autoimmune thyroiditis is unknown, but factors that may predispose to the condition include genetics, high iodine consumption, and age9). Thyroid antibodies are found more commonly in Noonan syndrome, but, hypothyroidism is not more common in Noonan syndrome compare to general population1011). Pericardial effusion can be caused by isolated clinical problems or manifestations of various systemic diseases such as hypothyroidism12).…”

Section: Discussionmentioning

confidence: 99%

Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome

et al. 2016

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Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily. However, during admission, he developed symptoms of cardiac tamponade. Closed pericardiostomy was performed, after which the patient's chest discomfort improved, and his vital signs stabilized. Herein, we report a case of an adolescent with Noonan syndrome, who was diagnosed with Hashimoto thyroiditis with an unusual presentation of cardiac tamponade.

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Section: Discussionmentioning

confidence: 99%

Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome

et al. 2016

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“…Another report from Yamashita et al [2004] details a patient with NS, Moyamoya vascular changes, and antiphospholipid syndrome with positive testing for anticardiolipin antibody, ANA, and lupus anticoagulant. In addition there are numerous reports of NS patients with various types of autoimmune disorders [Chaves‐Carballo and Hayles, 1966; Vesterhus and Aarskog, 1973; Berberich and Hall, 1976; Sharland et al, 1992]. We report on a 5‐year‐old girl with NS and SLE, the youngest child described to date with both disorders serving to identify further an increasingly recognizable association between NS, SLE, and potentially other auto‐immune mediated diseases.…”

Section: Previously Reported Cases Of Patients With Noonan Syndrome (mentioning

confidence: 73%

Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome

Lopez-Rangel

Malleson

Lirenman

et al. 2005

American J of Med Genetics Pt A

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“…The first evidence for autoimmunity in patients with NS was described by Vesterhus et al who reported an increased prevalence of autoimmune thyroiditis in patients with NS [10]. Since the first report of NS and SLE in a 20-year-old patient was reported by Martin et al [11] some other reports for this association has been recognized in the last decade (Table 2).…”

Section: Discussionmentioning

confidence: 95%

Noonan Syndrome and Systemic Lupus Erythematosus: Association or Risk Factor?

S¹

2013

Int J Genomic Med

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Aim: The RAS/MAPK signaling pathway proteins with germline mutations in their respective genes are associated with several disorders such as Noonan, LEOPARD, neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. Some monogenic conditions are associated with the development of systemic lupus erythematosus (SLE), in medical literature are few reports that describe the association of RAS opathies and autoimmune disease. Our aim was to describe the clinical picture of a patient with diagnosis of Noonan and SLE. Methods: We report a clinical case of a 24-year-old woman with Noonan syndrome who developed SLE according to American College of Rheumatology criteria for the classification of SLE. The patient had arthritis, serositis, lymphopenia, proteinuria, high levels of antinuclear antibodies and anti-ds DNA positive. This rare association then driven to search the medical literature for English articles on the subjects of Noonan and SLE in Pubmed. Results: Our patient had oligoarthritis, serositis, lymphopenia, ISN/RPS Class IV lupus nephritis, ANA 1:1280 homogeneous pattern and anti-dsDNA antibodies very similar to the 8 patients already reported in literature. Conclusion: There are nine cases reported with the association of two rare diseases, Noonan syndrome and SLE, this connection could suggests that RAS opathies may be a risk factor to the development of autoimmune disorders.

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Noonan's syndrome and autoimmune thyroiditis

Cited by 29 publications

References 18 publications

Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome

Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome

Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome

Noonan Syndrome and Systemic Lupus Erythematosus: Association or Risk Factor?

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