Laboratory investigations, whilst not essential to the diagnosis of seizures or of epilepsy, can be fundamental to determining the cause and guiding management. Over 50% of first seizures have an acute symptomatic cause, including a range of metabolic, toxic or infectious cause. The same triggers can precipitate status epilepticus, either de novo or as part of a deterioration in control in individuals with established epilepsy. Some, such as hypoglycaemia or severe hyponatraemia, can be fatal without prompt identification and treatment. Failure to identify seizures associated with recreational drug or alcohol misuse can lead to inappropriate AED treatment, as well as a missed opportunity for more appropriate intervention. In individuals with established epilepsy on treatment, some laboratory monitoring is desirable at least occasionally, in particular, in relation to bone health, as well as in situations where changes in AED clearance or metabolism are likely (extremes of age, pregnancy, comorbid disorders of renal or hepatic function). For any clinician managing people with epilepsy, awareness of the commoner derangements associated with individual AEDs is essential to guide practice. In this article, we review indications for tests on blood, urine and/or cerebrospinal fluid in patients presenting with new‐onset seizures and status epilepticus and in people with established epilepsy presenting acutely or as part of planned monitoring. Important, but rare, neurometabolic and genetic disorders associated with epilepsy are also mentioned.
NHS England identified Patient Initiated Follow Up (PIFU) as part of NHS COVID-19 recovery, in line with the personalised-care agenda. We aimed to assess how the introduction of PIFU for neurology patients at Croydon University Hospital (CUH) has impacted patient outcomes, capacity and non-elective admissions.Data were extracted from electronic records on all patients booked into a CUH neurology PIFU appoint- ment from 1st June to 29th October 2021. Data were collected on the number of admissions or outpatient attendances for 5 years pre-PIFU appointment and compared with 0-6 months post-PIFU.355 patients had a PIFU appointment at CUH neurology between 1st June and 29th October 2021. The most common neurological conditions prompting a PIFU appointment were epilepsy (40%), multiple sclerosis (22%) and Parkinson’s disease (12%). The average number of outpatient appointments reduced from 11.0 pre-PIFU to 1.5 post-PIFU. The average number of ED attendances reduced from 3.1 pre-PIFU to 0.4 post-PIFU.Although there are significant limitations in this study (inadequate time since appointment, the pandemic), we remain keen on PIFU and had been running an advice line service before it was labelled as PIFU. Further follow-up data and patient satisfaction data is needed.
BackgroundDrop attacks are commonly referred to Neurologists and their differential diagnosis is wide. The family history and clinical examination proved critical in establishing the (very rare) cause here.Clinical caseA 21-year-old man was seen with drop attacks provoked by auditory stimuli. He had global developmental delay, and dysmorphic features- traits shared by his mother, sister and brother (none of whom had neurological complaints or severe learning disability [LD]). Examination revealed hypertelorism, low slanting palpebral fissures, ‘fleshy’ hands & tapering fingers and kyphoscoliosis. His mother and sister had similar hands.An archived genetic test confirmed the presence of a mutation in RPS6KA3, supporting the diagnosis of Coffin-Lowry syndrome (CLS). CLS is rare (1:50,000) and X-linked dominant. In addition to LD and dysmorphic features (as here), stimulus-induced drop attacks (responsive to Clonazepam, usually) are common.CLS affects women less severely, due to the ameliorating effect of the non-mutated allele in females. The mildly affected brother of the proband has Klinefelter’s syndrome.Our patient’s attacks were completely abolished with Clonazepam.Key pointsThe differential diagnosis of drop attacks is wide.Don’t forget the family!Genetic testing, as well as elucidating diagnoses, can point to effective therapies.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.