Abdul Karim Said Al Makakdma
Alfaisal University, KSA
Title: First Saudi ROHHAD (Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation): Case report
Biography
Biography: Abdul Karim Said Al Makakdma
Abstract
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.