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

被引：0
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作者：
Martina Di Stasi
Giana Izzo
Elisa Cattaneo
Vittoria Baraldini
Chiara Doneda
Andrea Righini
Daniela Graziani
Valentina Toto
Cecilia Parazzini
机构：
[1] University “Federico II”,Department of Advanced Biomedical Sciences
[2] ASST FBF SACCO - V. Buzzi Children’s Hospital,Department of Pediatric Radiology and Neuroradiology
[3] ASST FBF SACCO - V. Buzzi Children’s Hospital,Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology
[4] ASST FBF SACCO – V. Buzzi Children’s Hospital,Pediatric Surgery Unit, Department of Vascular Surgery
[5] ASST Santi Paolo e Carlo,Department of Human Pathology, Cytogenetic and Molecular Pathology
[6] University of Milan,Complex Unit of Pathological Anatomy and Medical Genetics, San Paolo Hospital
来源：
neurogenetics | 2021年 / 22卷
关键词：
MRI; Cerebellum; Pediatrics; PROS;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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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页码：27 / 32
页数：5
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