Wolf-Hirschhorn syndrome: a case report
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Abstract
Wolf-Hirschhorn Syndrome (WHS) is caused by a genetic deletion of the short arm of chromosome 4 (4p16.3). It has an incidence of 1:50,000 live births and a 2:1 ratio between women and men. The extension of the chromosomal deletion determines the phenotypic variations, which may involve craniofacial abnormalities, epileptic seizures, delayed neuropsychomotor development, microcephaly, hypotonia and malformations of multiple systems, especially the cardiac. This study will describe a case of WHS in a female child, diagnosed using a DNA microarray genetic study. Among the manifestations of the genetic anomaly, the child presented a typical craniofacial sign, partial and generalized seizures, severe delay in neuropsychomotor development, microcephaly, hypotonia, optic nerve defect, foot drop, malformation of the cardiovascular system and difficulty in gaining weight. Early diagnosis of WHS is essential to outline a strategic and personalized therapeutic plan, achieving better prognoses and quality of life for patients and families. In this case, the multidisciplinary therapeutic plan allowed assertive and individualized follow-up.
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