FRI600 Growth Attenuation Treatment In A Child With Cdkl5 Deficiency: The First Case In Our Institution

Abstract

Abstract Disclosure: F.I. Cooper: None. M. Padron: None. S. Gurnurkar: None. Introduction: Growth attenuation is an innovative therapy that may offer an improved quality of life for children who are non-ambulatory and have profound cognitive disability and allow for their families to provide more comfortable and longer-term care. In this case report, we describe growth attenuation treatment of a developmentally delayed 11-year-old male with estradiol to facilitate the family’s care of the patient. Case Presentation: A 11-year-old male with CDKL5 deficiency (consisting of developmental delay, aggression, and seizure disorder) presented for growth attenuation treatment due to parental concerns of tall projected final height (75 inches) posing future care challenges. His height was at the 97th% with Tanner stage II for testicular development and pubic hair. His bone age was consistent with chronological age predicting adult height of 75 inches. The hospital ethics committee was consulted and after discussion with genetics (the condition is expected to worsen with age), primary care and complex care, the committee concluded that growth attenuation treatment was in the best interest of the patient. Treatment with oral estradiol (2 mg/day titrated 2 mg weekly to a final dose of 10 mg daily) was started after normal baseline anti-coagulant factors. Estradiol was held 8 months after starting therapy due to declining protein C (68%, normal 70-180%) and protein S levels (46%, normal 70-150%). Hematology recommended adding low-dose aspirin (81 mg) while restarting estradiol therapy. Fifteen months after beginning estradiol, the bone age was at approximately 16 years (chronological age 13 years 6 months) and he grew approximately 6 inches to a final height of 68 inches. The estradiol is now being tapered off and the family feels more comfortable providing total care for the patient. Conclusion: We describe the first case of growth attenuation treatment in a 11-year-old child with profound intellectual disability and tall family genetics. Treatment decreased his final height from a projected 75 inches to 68 inches which aligned with the family’s goal and aims to decrease future challenges in care due to his size. This is not a standardized treatment and has faced controversy. For this reason, we recommend that treatment decisions be made on a case-by-case basis, in conjunction with the family and under the advice of an ethics committee. Our case also illustrates the need for a multidisciplinary approach in these patients. Presentation: Friday, June 16, 2023