Endocrine Abstracts

Background: Achondroplasia, the most common skeletal dysplasia, carries a highest risk of developing foramen magnum stenosis (FMS), particularly in young children, leading to cervicomedullary compression and potentially fatal outcomes. Early detection of spinal cord changes through routine MRI screening can help reducing the morbidity and mortality in this population. Considering recent evidence, the bone team at Evelina London Children’s Hospital implemented an MRI-based scoring system, the Achondroplasia Foramen Magnum Score (AFMS), to diagnose and assess the degree of FMS.

Objectives: Auditing the current practice at Evelina Hospital regarding the timing of neuroimaging screening for FMS in achondroplasia patients. Additionally, to determine if all patients underwent MRI screening for FMS using AFMS.

Method: Data were collected from electronic records at Evelina between 2021 and 2023. Patients whose baseline MRI images were requested and performed outside the hospital were excluded.

Results: A total of 51 children were included, all of whom received baseline brain and spinal MRI screenings for FMS (100% compliance). Among these, 33 patients underwent the MRI while being fed and wrapped, and 18 patients required general anaesthesia. FMS was detected in 44 out of 51 patients (86%) during the screening process. The median age at which baseline MRI was requested was 3 months, ranging from 7 days to 21 months. Notably, three patients had their baseline MRI requested at much later ages (12, 13, and 18 years) compared to the rest of the cohort, whose median age at referral to Evelina services was 27 days, ranging from 1 day to 13 years. The median time between the MRI request and the scheduled date was 30 days, with a range of 6 to 175 days. Only 26 out of 51 (51%) MRI reports included the AFMS.

Conclusion: These findings shed light on the importance of ongoing improvement and standardization of care for this population. This study emphasizes the necessity of standardized protocols for timely MRI screenings, optimized employment of AFMS for consistent reporting, early referral to specialized centres, and prompt management of FMS. These measures aim to reduce potential complications and enhance patient outcomes.