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01-01-2018 | Picture of the Month

CLOVE Syndrome

Authors: Ananthanarayanan Kasinathan, Naveen Sankhyan, Chirag Kamal Ahuja, Pratibha Singhi

Published in: Indian Journal of Pediatrics | Issue 1/2018

Excerpt

A 3-mo-old boy presented with global developmental delay and epileptic spasms since ten-weeks of life. He was the second child of a non-consanguineous couple with unremarkable perinatal period. Parents had noticed areas of excess body growth and multiple areas of skin discoloration since birth. At six weeks of life, the child developed recurrent, focal, left upper limb seizures and from ten weeks, flexor epileptic spasms. He had not achieved social smile or neck stability. Family history was non-contributory. …

Kurek KC, Luks VL, Ayturk UM, et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012;90:1108–15.CrossRefPubMedPubMedCentral

Gucev ZS, Tasic V, Jancevska A, et al. CLOVE syndrome (congenital lipomatous overgrowth, vascular malformations, and epidermal nevi): CNS malformations and seizures may be a component of this disorder. Am J Med Genet A. 2008;146A:2688–90.CrossRefPubMedPubMedCentral

Bloom J, Upton J. CLOVES syndrome. J Hand Surg Am. 2013;38:2508–12.CrossRefPubMed

Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A. 2007;143A:2944–58.CrossRefPubMed

Title: CLOVE Syndrome
Authors: Ananthanarayanan Kasinathan
Naveen Sankhyan
Chirag Kamal Ahuja
Pratibha Singhi
Publication date: 01-01-2018
Publisher: Springer India
Published in: Indian Journal of Pediatrics / Issue 1/2018
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-017-2416-z

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