A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with Mutation
| Autor: | Young Mi Park, Yoon-Myung Kim, Seong Hee Oh, Hyun-Seung Jin |
|---|---|
| Jazyk: | English<br />Korean |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Neonatal Medicine, Vol 30, Iss 2, Pp 55-59 (2023) |
| Druh dokumentu: | article |
| ISSN: | 2287-9412 2287-9803 |
| DOI: | 10.5385/nm.2023.30.2.55 |
| Popis: | Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder characterized by megalencephaly, polymicrogyria, body overgrowth, and cutaneous capillary malformations. It has been reported recently that MCAP is related to a somatic mosaic mutation in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. We report a case of hemimegalencephaly with polymicrogyria and cutaneous capillary malformations diagnosed by genetic evaluation of MCAP in the neonatal period. The PIK3CA mutation [c.1635G>T (p. Glu545Asp)] was determined by Sanger sequencing. The patient was treated with a ventriculoperitoneal shunt for progressive hydrocephalus. Because of the dynamic, progressive clinical manifestations and tumor-prone traits of MCAP, early diagnosis is important. Moreover, since the phosphoinositide 3-kinase (PI3K)-specific inhibitor, a targeted therapy for the PI3K/AKT/mTOR signaling pathway is emerging as a new therapy, early genetic diagnosis is becoming increasingly important. |
| Databáze: | Directory of Open Access Journals |
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