Cataplexy Mistaken for Seizures in a Patient With Undiagnosed Narcolepsy Type I.

Narcolepsy Type 1 is a sleep disorder, with cataplexy as its cardinal feature, characterized by sudden decrease or loss of muscle tone triggered by strong emotions. Cataplexy can be misdiagnosed as epileptic seizures given its clinical similarity to atonic seizures. The low prevalence of the disease added another layer of complexity in providing timely and accurate diagnosis. We report a case of a young man with recurrent episodes of falling and an inability to respond, initially misinterpreted as epileptic seizures due to findings in routine electroencephalography (EEG). Anti-seizure medications were ineffective, and subsequent ambulatory EEG revealed no epileptic activity during events. A detailed history uncovered symptoms of cataplexy and daytime sleepiness, leading to the correct diagnosis of narcolepsy type I confirmed by polysomnogram (PSG) and mean sleep latency test (MSLT). Discontinuation of anti-seizure medications and treatment with venlafaxine successfully resolved cataplexy. The case highlights the importance of a thorough clinical history in distinguishing cataplexy from seizures, as well as the caution against relying solely on EEG findings for epilepsy diagnosis. Ambulatory EEG can help exclude epileptic events, and PSG with MSLT are necessary to confirm narcolepsy type I.

Seizure control with treatment of delayed sleep-wake phase disorder in juvenile myoclonic epilepsy: A case report.

Juvenile Myoclonic Epilepsy (JME) is an idiopathic generalized epilepsy associated with a characteristic sleep/wake rhythm, with the tendency to go to bed later at night, to get up later in the morning. In the pediatric population, we have previously observed specific circadian and sleep/wake patterns of generalized seizures (6 am-12 pm) and myoclonic seizures (in wakefulness, 6 am to noon). Delayed Sleep-Wake Phase Disorder (DSWPD) is characterized by sleep initiation insomnia when attempting sleep at conventional times and difficulty waking at the required time. Here we present the case of a 20-year-old man with JME, diagnosed DSWPD (sleep schedule 3 am to 11 am), presenting with nocturnal seizures out of sleep, always between 5 and 6am. Improvements in seizure control (seizure frequency from 8 per month to 0 per month) were achieved with timed evening melatonin, combined with behavioral sleep-wake scheduling (sleep schedule 10 pm to 6 am) and morning light therapy. Recognition and characterization of DSWPD in JME, together with assessment of circadian and diurnal seizure patterns, may offer therapeutic consideration for better control of seizures.

The role of carotid ultrasound in patients with non-lateralizing neurological complaints.

OBJECTIVES: In the United States, approximately 18-25% of carotid duplex ultrasound (CUS) studies are ordered to assess patients with non-lateralizing neurological complaints such as syncope, blurry vision, lightheadedness, headache, and altered mental status. The purpose of this study is to evaluate the benefit of CUS in the evaluation of patients presenting with non-lateralizing signs or symptoms. MATERIALS AND METHODS: We conducted a retrospective analysis to assess the degree and laterality of carotid stenosis among patients with non-lateralizing neurological complaints who underwent CUS interpreted by certified vascular neurologists over a period of 3 years. The primary endpoint was to identify the prevalence of moderate-to-severe carotid artery stenosis among 280 patients who met inclusion criteria. RESULTS: A total of 17.7% of CUS studies were ordered for non-lateralizing symptoms. Two hundred and sixty-one patients (93.21%) had either normal imaging or mild carotid stenosis of <50%. Nineteen patients (6.79%) were found to have stenosis of ≥50%. In this subgroup, age and known preexisting carotid artery atherosclerotic disease were the only variables found to have a statistically significant association with the level of stenosis found on CUS. Two patients with asymptomatic stenosis of >70% underwent a revascularization procedure. CONCLUSION: At least 17.7% of CUS studies were completed for non-lateralizing symptoms. The study is of low-yield with the prevalence of moderate-to-severe stenosis being comparable to that in the general asymptomatic population. We conclude that there is minimal clinical value in the use of CUS to investigate non-lateralizing neurological complaints, resulting in unnecessary healthcare costs.

Evaluation of thrombophilia testing in the inpatient setting: A single institution retrospective review.

BACKGROUND: Thrombophilia workup is typically inappropriate in the inpatient setting as testing may be skewed by anticoagulation, acute thrombosis, or acute illness. OBJECTIVE: To determine adherence of inpatient thrombophilia testing with institutional guidelines. PATIENTS AND METHODS: A retrospective study to evaluate thrombophilia testing practices of adult patients who were admitted to Lehigh Valley Hospital at Cedar Crest with either venous thromboembolism or ischemic stroke in 2019. Testing included inherited and acquired thrombophilia. Patient charts were individually reviewed for three measured outcomes: 1) the number of appropriate thrombophilia testing in the inpatient setting; 2) the indications used for thrombophilia testing; 3) the proportion of positive thrombophilia tests with change in clinical management. RESULTS: 201 patients were included in our study. 26 patients (13%) were tested appropriately in accordance with institution guidelines and 175 (87%) patients were tested inappropriately. The most common reason for the inappropriate testing was testing during acute thrombosis. 28 of the 201 patients had positive thrombophilia tests, but the reviewers only noted 7 patients with change in clinical management-involving anticoagulation change. CONCLUSION: Our study revealed that a majority of inpatient thrombophilia testing did not follow institutional guidelines for appropriate testing and did not change patient management. These thrombophilia tests are often overutilized and have minimal clinical utility in the inpatient setting.