13 April 2020 : Case report
Challenging differential diagnosis, Rare coexistence of disease or pathologyLindy M.R. Moxham12ABEF*, Arthur I. Mallinson34BCD
Am J Case Rep 2020; 21:e922908
BACKGROUND: 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, Adolescent, Gymnastics, postural balance, Semicircular Canals, Temporal Bone
09 Jan 2024 : Case reportChallenges of Post-Venipuncture Jugular Venous Thrombosis in Patients with Secondary Hyperparathyroidism: A...
Am J Case Rep In Press; DOI: 10.12659/AJCR.943270
09 Jan 2024 : Case reportNeurotrophic Keratopathy in Marfan Syndrome Patient After Micropulse Transscleral Cyclophotocoagulation: A ...
Am J Case Rep In Press; DOI: 10.12659/AJCR.942538
03 Feb 2024 : Case reportDefinitive Closure Using an Ovine Reinforced Tissue Matrix in Contaminated Penetrating Abdominal Trauma
Am J Case Rep In Press; DOI: 10.12659/AJCR.943188
Most Viewed Current Articles
10 Jan 2022 : Case reportA Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case reportAtlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19
Am J Case Rep 2022; 23:e936128
05 Mar 2022 : Case reportAcute Limb Ischemia After Self-Injection of Crushed Morphine Tablets into the Radial Artery: Role of Infrar...
Am J Case Rep 2022; 23:e935336