Teaching NeuroImages: CLOVES Syndrome

A 17-year-old boy was diagnosed with congenital lipomatous overgrowth with vascular, epidermal, skeletal, and spinal anomalies (CLOVES) syndrome,1 mainly affecting his right face, brain, and trunk (MIM#612918) (figure, A–C). Brain MRI revealed right hemimegalencephaly with extensive temporo-parieto-occipital cortical dysplasia (figure 1, D1-4). He developed neonatal drug-resistant seizures requiring right hemispherectomy at 15 months. He has left hemiparesis and intellectual disability. CLOVES syndrome is a segmental overgrowth syndrome associated with somatic hyperactivating mutations in PIK3CA, belonging to the mammalian target of rapamycin signaling pathway.2 Genetic testing on buccal swab revealed a pathogenic somatic missense mutation in PIK3CA (NM_006218.4:c.1624G>A, p.Glu542Lys) at an alternate allele frequency of 4.5%, which was absent in blood.

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