Pharmacological Treatment of Stimulus-Induced Drop Episodes in Children with Coffin-Lowry Syndrome: Case Experience and an Overview of the Literature

Background/Purpose: Stimulus-induced drop episodes are a characteristic sign of Coffin-Lowry syndrome and cause relevant reduction of the quality of life of patients.

Methods: Based on a case report, several possibilities of pharmacological treatment are presented and discussed taking into account the actual literature.

Results: We present a 16-year-old boy with the diagnosis of Coffin-Lowry syndrome made in our center 4 years ago, because of the combination of mental retardation and drop episodes of unknown origin. After exclusion of epilepsy the clinical diagnosis was genetically confirmed. We started pharmacological treatment of the drop episodes with clobazam, methylphenidate and sertraline. The medication leads to temporary or partial improvement with loss of function over time. Since the start of treatment with atomoxetine 9 months ago, drop episodes occur very rarely. Furthermore, the medication shows a positive effect on alertness and activity level of the patient.

Conclusion: Stimulus-induced drop episodes lead to a significant decrease of quality of life in patients with Coffin-Lowry syndrome. Successful pharmacological treatment is possible with medication usually used for the treatment of attention deficit disorders. An individual and structural approach is necessary.