Noonan syndrome and cavernous hemangioma of the brain

Tanaka, Yukichi; Masuno, Mitsuo; Iwamoto, Hiroko; Aida, Noriko; Ijiri, Rieko; Yamanaka, Shōji; Imaizumi, Kiyoshi; Kuroki, Yoshikazu

doi:10.1002/(sici)1096-8628(19990129)82:3<212::aid-ajmg3>3.0.co;2-4

Cited by 18 publications

(10 citation statements)

References 7 publications

(10 reference statements)

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“…Moschovi et al described another rhabdomyosarcoma, but no molecular analysis had been performed on this patient [16]. Tanaka et al reported a Noonan syndrome patient with a cavernous hemangioma of the brain [32].…”

Section: Discussionmentioning

confidence: 99%

Tumor development in three patients with Noonan syndrome

et al. 2007

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The diagnosis of Noonan syndrome is essentially clinical, based upon the distinct phenotype and the involvement of the cardiovascular system. Tumor development is a rare manifestation of Noonan syndrome but can be explained by the molecular pathophysiology involved in the disorder. We present three Noonan patients who developed solid tumors. The first patient, a 4-year-old girl, developed granular cell tumors as did her mother in childhood. The second patient, a 1-year-old boy, had a low grade pilocytic astrocytoma, the clinical expression of which was persistent headache. MRI showed a pituitary mass in the posterior lobe. It was surgically removed. The third patient, a 7-year-old boy was found to have Sertoli tumors in his right cryptorchid testis. All three patients fulfilled the clinical criteria for Noonan syndrome. However, genetic testing was negative in patients 1 and 3. The diagnosis of Noonan syndrome was made based on distinct phenotypic findings in three patients who had different types of tumors.

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Section: Discussionmentioning

confidence: 99%

Tumor development in three patients with Noonan syndrome

et al. 2007

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“…Suttor et al reported an association of multiorgan vascular malformations with NS (6). On the other hand, Turner's syndrome with multiorgan vascular malformations has been previously noted (7,8). In the present case, no other vascular malformation except for angioectasia in the small intestine was demonstrated.…”

Section: Discussionmentioning

confidence: 99%

Bleeding from the Small Intestine and Aortic Regurgitation in Noonan Syndrome

Yoshino

Okumachi²,

Akisaki³

et al. 2011

Intern. Med.

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A 62-year-old man was admitted to our hospital because of melena. On admission physical examination revealed that he had typical features of Noonan syndrome (NS). Investigation via upper endoscopy with the single balloon demonstrated oozing from the small intestine. Bleeding sometimes occurs in patients with NS. We speculated that coagulation defects or vascular malformations might have been present at the first visit in this case. However, coagulation function was normal. By upper endoscopy with the single balloon we clearly revealed the angioectasia in the small intestine. This case documents the first association among NS, aortic regurgitation and angioectasia in the small intestine.

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“…Indeed, to the best of our knowledge, it has not been previously described. Tanaka et al (1999), however, have recently reported cavernous hemangiomas of the brain without any cutaneous lesions in 2 patients with Noonan phenotypes. Furthermore, our patient did not fit into the phenotypic entity of CFC syndrome as he did not have the cardiovascular anomalies, hair changes, hyperkeratotic and other ectodermal lesions and cranial deformities associated with this condition (McKussick, 1988;Borradori and Blanchet-Bardon, 1993;Verloes et al, 1988;Reynolds et al, 1986).…”

Section: Discussionmentioning

confidence: 99%

A patient with extensive blue rubber bleb nevi associated with multiple congenital anomalies: An overlap or a new syndrome?

Attia

Adams

2003

Clinical Dysmorphology

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We report a case of a 13 year old boy with non-familial, multiple blue rubber bleb nevi (BRBN). He also had additional dysmorphic anomalies including a low hairline, low set ears, narrow nares, ptosis, hypotelorism, a high arched palate and downward slanting of the outer canthi. Skeletal deformities included a short, slightly webbed neck, kyphosis, cubitus valgus, non-traumatic luxation of the head of the right radius and a short left little and index fingers. He had no evidence of gastrointestinal lesions or bleeding, congenital heart or renal disease or enchondromata. The boy was mentally slow compared to his peers. He had normal chromosomes. The absence of gastrointestinal bleeding or iron deficiency anaemia is inconsistent with Bean's syndrome and the lack of enchondromata in this patient militates against the diagnosis of classical Maffucci syndrome. Some of his physical features are obviously similar to those observed in a Noonan's syndrome yet the presence of extensive BRBN would be an extremely unusual finding. Since the overall picture does not fit into any of the classical categories mentioned above, the constellation of his features has yet to find a specific syndrome. It may, however, represent an overlap between them or, possibly, a new syndrome.

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Noonan syndrome and cavernous hemangioma of the brain

Cited by 18 publications

References 7 publications

Tumor development in three patients with Noonan syndrome

Tumor development in three patients with Noonan syndrome

Bleeding from the Small Intestine and Aortic Regurgitation in Noonan Syndrome

A patient with extensive blue rubber bleb nevi associated with multiple congenital anomalies: An overlap or a new syndrome?

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