Volume - 13 | Issue-1
Volume - 13 | Issue-1
Volume - 13 | Issue-1
Volume - 13 | Issue-1
Volume - 13 | Issue-1
Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder that involves partial deletion of the short arm of chromosome 4. Although rare, this syndrome may cause significant morbidity and mortality for the patients. We report a rare case of WHS in a 3-year-old girl. The patient came to the hospital with complaints of unprovoked generalized tonic seizure one and a half hours before hospital admission. The seizure duration was only 5 minutes without any behavioral changes before or after the seizure. The patient had a characteristic facial appearance which resemble a "Greek helmet", delayed growth and development, and clubfoot. Magnetic resonance imaging (MRI) examination revealed suspicion of bilateral cerebral hypoplasia. The electroencephalography (EEG) result was within normal limits. Echocardiography showed 2-mm patent foramen ovale (PFO) and 2-mm ventricular septal defect (VSD) with left-to-right shunt. The chromosomal analysis demonstrated a translocation between chromosome 4 with chromosome 8. A better understanding of the WHS process and its characteristics will allow healthcare providers to give appropriate and comprehensive multidisciplinary care.