Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome

Autor: Yuri Yoh, Tadashi Shiohama, Tomoko Uchida, Ryota Ebata, Hironobu Kobayashi, Kentaro Okunushi, Mitsuhiro Kato, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Hiromichi Hamada

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Megalencephaly-capillary malformation syndrome (MCAP, OMIM # 602501) is caused by hyperactivity of the thephosphoinositide-3-kinase (PI3K)–Vakt murine thymoma viral oncogene homolog (AKT)–mammalian target of rapamycin (mTOR) pathway, which result

Externí odkaz: https://doaj.org/article/76d7c2d39b6c49a0b670eaf6c4b45ba8

Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature

Autor: J. Hinojosa, Mariana Alamar, S Candela, A Flor-Goikoetxea, Jordi Muchart, H Salvador, A F Martinez-Monseny

Publikováno v: CHILDS NERVOUS SYSTEM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

PURPOSE: We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in order to assess the optimal treatment for the associated hydrocephalus. METHODS: We review our institutional series

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::253740472ec4fd5ad2f1894d4405b9d7
https://doi.org/10.1007/s00381-021-05222-8

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Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

Autor: Gaetano Cantalupo, Alice Maguolo, Elena Fiorini, Franco Antoniazzi, Rossella Gaudino, Alice Spano, Paolo Cavarzere, Paolo Biban, Margherita Mauro, Silvia Maitz

Publikováno v: Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-6 (2018)

Background Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which present a wide range of phenoty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1512b3278b1161d840399bdc582a8d2c
http://link.springer.com/article/10.1186/s13052-018-0568-8

Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome

Autor: Helen Byers, Jill Clayton-Smith, John H McDermott

Publikováno v: Clinical Dysmorphology. 25:16-18

The megalencephaly capillary malformation syndrome (MCAP, OMIM 602501) is known to be associated with mosaic mutations in PIK3CA occurring during embryogenesis. Standard sequencing technologies are relatively poor at indentifying sequence changes tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08150108e48554599ea357bb761360a1
https://doi.org/10.1097/mcd.0000000000000099