Infantile spasms associated with 5q14.3 deletion.
West syndrome consists of the triad of infantile spasms, characteristic electroencephalogram (EEG) pattern of hypsarrythmia and developmental delay. Infantile spasms generally occur in infants during the first year of life. There are different genetic mutations and syndromes associated with infantile spasms. We report the case of a white 14-month-old boy who developed infantile spasms and was found to have a 5q14.3 deletion.
Marashly
Ahmad
A
Louisiana State University Health Sciences Center, Department of Pediatrics, School of Medicine, Shreveport, USA.
Riel-Romero
Rosario Maria S
RM
Ursin
Susonne
S
Ghawi
Hani
H
D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D013036:Spasms, Infantile / Q000235:genetics*