Recognizing and Treating Catatonia in Kleefstra Syndrome

Kleefstra syndrome is a rare genetic disorder (less than 1 in 1,000,000) associated with a mutation of the euchromatic histone lysine methyltransferase 1 gene of the ninth chromosome. This gene controls the production of the enzyme, histone methyltransferase 1, which has widespread impacts on the body's ability to function. There are numerous physiologic impacts of the genetic abnormalities associated with Kleefstra syndrome, including psychiatric and behavioral comorbidities. One of these comorbidities is Catatonia. Catatonia is a neuropsychiatric syndrome that is associated with psychomotor disturbances, with individuals either appearing to be hypokinetic or, less commonly, hyperkinetic. It is defined by a compilation of symptoms that range from changes in communication, movements, and behaviors. Though case reports in the literature are nonexistent, Catatonia is known to be associated with Kleefstra syndrome. Furthermore, the successful treatment of Catatonia associated with Kleefstra has not yet been reported. This case describes a 17-year-old male with a history of Kleefstra syndrome and Catatonia who was successfully treated with scheduled Lorazepam. Discussion of such a case in the literature is important to help other providers appropriately diagnose and treat this often overlooked psychiatric condition in patients with complex genetic syndromes.