Abstract
Introduction
Cataplexy (associated with narcolepsy) is difficult to differentiate from conditions such as seizure, syncope or TIA, but using validated clinical tools can help. We report a case that was mistakenly diagnosed as cataplexy, delaying diagnosis and treatment of his underlying seizures.
Report of Case
A 42 years old male presented with “freezing spells” described as spontaneous episodes of weakness in his knees. He may stagger and drop objects but had never fallen. He denies loss of consciousness. Post-ictally, he takes a moment to readjust his body and returns to baseline. There was no warning or aura before the episodes. These spells initially occurred 1-2 times/year in 2002, then progressed to 1/month by 2006 and then increased to 15 times/day in Jan 2019, lasting 5-10 seconds at a time. He became hesitant to drive. He was evaluated by a pulmonologist/sleep specialist. PSG showed Mild OSA but MSLT wasn’t suggestive of Narcolepsy. He was prescribed CPAP but stopped after 6 months since it didn’t improve his symptoms. He was prescribed Venlafaxine to treat presumptive Cataplexy, without any benefit. Eventually, he was referred to neurology/sleep clinic. Cataplexy questionnaire was administered and was negative: specifically, there were no emotional triggers of his episodes, such as hearing a joke, laughing or crying. Due to the stereotyped nature of his spells, he was referred to epilepsy specialist. He underwent 72 hours video EEG monitoring which showed that his clinical episodes were associated with EEG abnormality, suggestive of frontal lobe epilepsy. He was placed on Keppra and Oxcarbazepine. On follow up visit, he reported improvement in seizure frequency from 10-20/day to 1-2/day.
Conclusion
A validated1 clinical Tool such as Stanford Cataplexy questionnaire helps in differentiation of Cataplexy from other forms of transient muscle weakness. It can prevent 15 years delay in diagnosis and treatment of patients, or use of unnecessary medication.