Recognizing and Treating Catatonia in Kleefstra Syndrome.

Area of Science:

• Genetics
• Neuroscience
• Psychiatry

Background:

• Kleefstra syndrome is a rare genetic disorder caused by mutations in the euchromatic histone lysine methyltransferase 1 gene.
• This syndrome is associated with various physiological impacts, including psychiatric and behavioral comorbidities like Catatonia.
• Catatonia, a neuropsychiatric syndrome characterized by psychomotor disturbances, is a known comorbidity of Kleefstra syndrome, though literature on its treatment is scarce.

Purpose of the Study:

• To report a case of Catatonia in a patient with Kleefstra syndrome.
• To describe the successful treatment of Catatonia associated with Kleefstra syndrome.
• To highlight the importance of recognizing and treating Catatonia in patients with complex genetic disorders.

Main Methods:

• A case report of a 17-year-old male with Kleefstra syndrome and Catatonia.
• Treatment administered: scheduled Lorazepam.
• Clinical observation and assessment of treatment efficacy.

Main Results:

• The patient with Kleefstra syndrome and Catatonia showed successful symptom resolution with scheduled Lorazepam.
• This represents the first reported successful treatment of Catatonia in the context of Kleefstra syndrome.

Conclusions:

• Lorazepam can be an effective treatment for Catatonia in patients with Kleefstra syndrome.
• Early diagnosis and appropriate treatment of Catatonia are crucial for patients with complex genetic syndromes.
• Further research is needed to establish standardized treatment protocols for Catatonia in Kleefstra syndrome.