Alfaisal University, KSA
Title: First Saudi ROHHAD (Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation): Case report
Abdul Karim Said Al Makadma has completed his Diploma of Child Health from the Royal College of Physicians and Surgeons in Dublin, Ireland. He was trained at IWK Health Center in Dalhousie University in Canada and has been certified in Adolescent Medicine and General Pediatrics training. He has obtained his Masters of Health Professions Education from Maastricht University, Netherlands. He is currently certified by "Who’s Who in the world" 2010 and a recognized by "Who’s who In Asia" 2012 as the Founder of the Adolescents Medicine in Saudi Arabia and the Chairman of the Adolescent Medicine and General Pediatrics Department at the Children’s Hospital, King Fahad Medical City in Riyadh, Saudi Arabia. He is the author of few books in the health field, both in English and Arabic. He has published many articles in numerous of the highly ranked international journals, also he is a recognized Reviewer for Elsevier journals specially The Journal of Adolescent Health.
ROHHAD is a rare disease that affects young children at 1.5 years of age; clinically it is defined as the (Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation). According to the NIH ROHHAD morbidity rate is high especially with delayed diagnosis and intervention. Little is known about the ROHHAD syndrome in the Saudi pediatrics population. Our main objective of the current study is to explore the occurrence of the ROHHAD syndrome in Saudi children. We are using the international definition for ROHHAD to identify the possible cases, particularly the NIH definition. Moreover we carried out the required diagnosis including a full blood profile and clinical assessment. Our findings showed a positive case of ROHHAD to a three years old girl that was admitted to the King Fahad Hospital, May 2012. The child suffered from hyperphagia polydipsia and polyuria, starting the age of 30 month, as a result of which she has gained weight of 33 kg with BMI of 28. Never the less the investigations revealed a high prolactin level of 2076 ng/ml with continuous repeat of t: 1490 ng/ml. Sleep studies were carried out and showed Sleep apnea by which the ROHHAD syndrome was confirmed. In conclusion, here we identified for the first time the ROHHAD case in Saudi Arabia which also the first reported in the GCC (Gulf Cooperation Council). More studies are needed with multi-disciplinary approach to investigate the ROHHAD syndrome that might be overlooked in our region.