てんかんジャーナル

Examining New Cases Clinically and Genetically

Abstract

Eva Cristiana

The rare disorder Wolf-Hirschhorn syndrome (WHS), which is caused by a distal 4p deletion, is characterised by craniofacial dysmorphism, congenital fusion abnormalities, hypotonia, intellectual impairment, and epilepsy. The clinical characteristics depend on the magnitude of the deletion. Our goals included identifying unusual distinct traits in a cohort of seven patients with 4p deletion and evaluating the usefulness of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)-combined kits as a diagnostic test and tool for cases that need additional research (chromosomal microarray analysis-CMA, karyotype). The basic characteristics of facial dysmorphism, intellectual disability, postnatal development delay, heart abnormalities, and hypotonia were detected during a clinical examination for all cases. We occasionally noticed renal anomalies, immunodeficiencies, convulsions, and structural brain abnormalities. A relatively limited number of cases of prenatal growth retardation were found, however postnatal growth failure was always present. In each case, karyotype and/or MLPA genetic testing supported the clinical diagnosis. In conclusion, it is important to look for the unusual signs of immunodeficiency, renal, and brain abnormalities. Although CMA is the industry standard test, in our experience, MLPA is also a trustworthy screening approach because the instances that were detected were either validated by MLPA or chosen for further research.