Challenging differential diagnosis, Rare coexistence of disease or pathology
Lindy M.R. Moxham, Arthur I. Mallinson
Division of Pediatric Otolaryngology – Head and Neck Surgery, BC Children’s Hospital, Vancouver, BC, Canada
Am J Case Rep 2020; 21:e922908
Available online: 2020-02-27
The 22q11.2 deletion syndrome (22q11.2DS) is the most common identified microdeletion in humans. Anomalies of the vestibular system can occur with great frequency and are reported in the radiology literature. Fewer reports exist regarding vestibular function or its clinical features.
CASE REPORT: We present a case report of a competitive gymnast with 22q11.2DS who was noted to be having specific issues related to balance under conditions of competition, specifically on the balance beam. Comprehensive balance assessment provided evidence of the absence of lateral semicircular canal function, correlating with computed tomography findings and her symptoms. Counselling and targeted training greatly improved her performance.
CONCLUSIONS: Comprehensive balance testing correlated with clinical and radiographic findings in a competitive gymnast with 22q11.2DS. Results demonstrated the functional aspect of this anomaly but also displayed the extent to which the complex interactions of all components of balance can work together to overcome balance issues under intense vestibular stress.
Keywords: DiGeorge syndrome, Neurotology, Vestibular Function Tests