Hypocalcemic convulsion with rhabdomyolysis, an indicator of 22q11.2 deletion syndrome in an adolescent boy

Abstract

A characteristic facial appearance and congenital heart diseases are the most common clinical features of patients with 22q11.2 deletion syndrome, many of whom are diagnosed in early childhood. Approximately 70％-90％ of adolescent patients develop developmental disorders. Hence, early diagnosis is vital to accurately determine their clinical status and provide effective treatment and support. However, some patients are not properly diagnosed and treated due to nonspecific clinical features. Here, we report the case of a 13-year-old boy who presented with convulsion accompanied by rhabdomyolysis, signs that ultimately led to a diagnosis of hypocalcemia and 22q11.2 deletion syndrome. In patients with convulsions due to hypocalcemia, 22q11.2 deletion syndrome should be considered as a differential diagnosis, despite the adolescent age and absence of any other specific complications.