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Cerebellar dysplasia related to PIK3CA mutation: a three-case series.

Authors
  • Di Stasi, Martina1
  • Izzo, Giana2
  • Cattaneo, Elisa3
  • Baraldini, Vittoria4
  • Doneda, Chiara2
  • Righini, Andrea2
  • Graziani, Daniela5
  • Toto, Valentina6
  • Parazzini, Cecilia2
  • 1 Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, Italy. [email protected] , (Italy)
  • 2 Department of Pediatric Radiology and Neuroradiology, ASST FBF SACCO - V. Buzzi Children's Hospital, Milan, Italy. , (Italy)
  • 3 Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, ASST FBF SACCO - V. Buzzi Children's Hospital, Milan, Italy. , (Italy)
  • 4 Pediatric Surgery Unit, Department of Vascular Surgery, ASST FBF SACCO - V. Buzzi Children's Hospital, Milan, Italy. , (Italy)
  • 5 Department of Human Pathology, Cytogenetic and Molecular Pathology, ASST Santi Paolo e Carlo, Milan, Italy. , (Italy)
  • 6 Complex Unit of Pathological Anatomy and Medical Genetics, San Paolo Hospital, University of Milan, Milan, Italy. , (Italy)
Type
Published Article
Journal
Neurogenetics
Publisher
Springer-Verlag
Publication Date
Mar 01, 2021
Volume
22
Issue
1
Pages
27–32
Identifiers
DOI: 10.1007/s10048-020-00628-z
PMID: 32901329
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

The term PROS (PIK3CA-Related Overgrowth Spectrum) indicates a wide spectrum of overgrowth disorders related to somatic mutations in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) pathway. We present three cases with PIK3CA mutation and clinical characteristics encompassing MCAP (megalencephaly-capillary malformation) condition but lacking all criteria to a certain diagnosis, most of all showing prevalent and peculiar involvement of cerebellar structures at MRI (magnetic resonance imaging) mainly consisting in cortical rim thickening and abnormal orientation of folia axis. These cases expand the spectrum of intracranial MRI features in PIK3CA disorders.

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