Developmental Regression of Motor Ability in the Patient With Interruption of the Aortic Arch: Juvenile Idiopathic Arthritis Associated With Deletion of 22q11.2 Syndrome

While developmental delay is often associated with 22q11.2 deletion syndrome and congenital heart diseases, developmental regression is rarely observed. We report the case of a one-year-old girl with 22q11.2 deletion syndrome whose motor development regressed after radical repair of an interrupted aortic arch and ventricular septal defect. Despite reasonable achievement of the initial motor milestones, she stopped crawling and was unable to pull herself to stand at one year and six months of age. No signs of suppressed cardiac function were observed, and residual coarctation was acceptable. Finger swelling coupled with limited knee extension was a clue to the suspicion of complicating juvenile idiopathic arthritis (JIA). Since our patient was refractory to the treatment with prednisolone and methotrexate, adalimumab was introduced, after which joint symptoms disappeared immediately without developing adalimumab-mediated cardiac dysfunction. Then, somatic growth as well as her motor development were regained without joint destruction. Although reported cases of JIA related to 22q11.2 deletion syndrome are primarily teen years, JIA became a source of developmental regression due to early onset in this case. Since early diagnosis and treatment are critical to prevent joint damage, physicians who participate in the medical care of patients with congenital heart diseases and 22q11.2 deletion syndrome should suspect JIA in case of motor developmental delay.