Abstract

Introduction: Hall-Hittner syndrome and its synonym; CHARGE syndrome is described as neurocristopathy with mutations in CDH7. Major and minor criteria are included in the diagnosis of CHARGE syndrome or Hall-Hittner syndrome. Wolff-Parkinson-White (WPW) syndrome is a common pattern of pre-excitation with abnormal Accessory Pathways (AP). Patent ductus arteriosus is a frequent congenital cardiac defect due to a delay in the closure of the ductus arteriosus of birth.
Case presentation: A young mentally retarded student female girl patient presented to the physician outpatient clinic for periodic follow-up in previously published and diagnosed (CHARGE syndrome hallmarked with Wolff-Parkinson-White syndrome and patent ductus arteriosus; 20 years post-repairing is an extreme combination). Ablation of accessory pathway, ECG, echocardiography and duplex ultrasound were the interventions.
Conclusion: The “Yasser’s triple discoloration sign (Triple color sign)” in Hall-Hittner syndrome post-recent successful ablation of WPW syndrome and neonatal closure of PDA is a new diagnostic dermatological and cardiovascular sign. The mechanism of “Yasser’s triple discoloration sign (Triple color sign)” is still not understood despite the suggested theories. The evidence of previously described infantile ECG Tee-Pee signs of hypocalcemia and adult low-ionized calcium may be a guide for associated DiGeorge syndrome. With the entrance of this new Sign (S), the old Mnemonic (CHARGE) syndrome can be modified to CHARGES syndrome by adding the letter (S) to it. Furthermore, future research will be recommended.

Keywords:Hall-hittner syndrome; Charge syndrome; Wolff-parkinson-white syndrome; Accessory pathway patent ductus arteriosus; Digeorge syndrome; Genetic syndromes; Yasser’s triple discoloration sign; Triple color sign

Abbreviations:AP: Accessory Psathway; CBC: Complete Blood Count; CHARGE Syndrome: Coloboma, Heart Defect, Atresia Choanae, Retarded Growth And Development, Genital Hypoplasia, and Ear Anomalies/Deafness; CHARGES Syndrome: Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness, and Yasser’s Triple Discoloration Sign; DA: Ductus Arteriosus; ECG: Electrocardiography; PA: Pulmonary Artery; PD: Patent Ductus; PDA: Patent Ductus Arteriosus; POC: Physician Outpatient Clinic; SGOT: Serum Glutamic-Oxaloacetic Transaminase; SGPT: Serum Glutamic-Pyruvic Transaminase; VR: Ventricular Rate; WPW syndrome: Wolff-Parkinson- White Syndrome