Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome.
Wolf-Hirschhorn syndrome is a well-known clinical entity caused by a terminal deletion of the short arm of chromosome 4 (4p-). The diagnosis is usually made in childhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures. Epilepsy is a major medical complication during the first years of life, with seizures typically being frequent, although they tend to improve or cease with age. We report on a woman diagnosed with WHS in her thirties by array-CGH. She presents with milder dysmorphic features, recognized by stereophotogrammetry and seizures persistent in adulthood.
Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK.
Antonietta
A
Coppola
Krishna
K
Chinthapalli
Peter
P
Hammond
Josemir W
JW
Sander
Sanjay M
SM
Sisodiya
D000328:Adult; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D054877:Wolf-Hirschhorn Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology