Cerebellar dysplasia related to PIK3CA mutation: a three-case series
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ORIGINAL ARTICLE
Cerebellar dysplasia related to PIK3CA mutation: a three-case series Martina Di Stasi 1 & Giana Izzo 2 & Elisa Cattaneo 3 & Vittoria Baraldini 4 & Chiara Doneda 2 & Andrea Righini 2 & Daniela Graziani 5 & Valentina Toto 6 & Cecilia Parazzini 2 Received: 13 April 2020 / Accepted: 3 September 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
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. Keywords PIK3CA . MRI . Cerebellum . Pediatrics . PROS
Introduction The term PROS (PIK3CA-Related Overgrowth Spectrum) has been coined during the Workshop Conference of Bethesda, on September 11 and 12 in 2013, and is used to indicate a wide spectrum of overgrowth disorders related to somatic mutations in PIK3CA pathway [1]. This umbrella term refers to diseases with overlapping clinical findings which include the following: macrodactily, fibroadipose hyperplasia or overgrowth (FAO), muscle hemihypertrophy, fibroadipose
infiltrating lipomatosis, vascular malformation, congenital lipomatous overgrowth (CLOVES), hemihyperplasia multiple lipomatosis (HHML), epidermal nevi, scoliosis/skeletal and spinal syndrome, megalencephaly-capillary malformation (MCAP), skin disorders (epidermal nevi, Seborrheic keratosis), and dysplastic megalencephaly (DMEG) [1]. These disorders appear at birth or, alternatively, are characterized by early childhood onset. Diagnostic criteria are divided in two categories: A and B. In the first one, patients must present a spectrum of features with two or more findings among
* Martina Di Stasi [email protected] Giana Izzo [email protected]
Cecilia Parazzini [email protected] 1
Department of Advanced Biomedical Sciences, University “Federico II”, Via Pansini, 5, 80131 Naples, Italy
Elisa Cattaneo [email protected]
2
Department of Pediatric Radiology and Neuroradiology, ASST FBF SACCO - V. Buzzi Children’s Hospital, Milan, Italy
Vittoria Baraldini [email protected]
3
Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, ASST FBF SACCO - V. Buzzi Children’s Hospital, Milan, Italy
4
Pediatric Surgery Unit, Department of Vascular Surgery, ASST FBF SACCO – V. Buzzi Children’s Hospital, Milan, Italy
5
Department of Human Pathology, Cytogenetic and Molecular Pathology, ASST Santi Paolo e Carlo, Milan, Italy
6
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