The often challenging diagnosis of neuromuscular junction (NMJ) disorders can be explained by suspicious red flags for the key differential diagnoses (mimics) and atypical presentations (chameleons). 

In the latest Editor's Choice paper podcast, PN's podcast editor Dr. Amy Ross Russell interviews Dr Stephen Reddel and Dr Shadi El-Wahsh, both from the Concord Hospital, New South Wales, Australia, and the authors of Neuromuscular junction disorders: mimics and chameleons.

Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest podcast every month. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol.

Production and editing by Letícia Amorim, Amy Ross Russell, and Brian O'Toole. Thank you for listening. 

Neuromuscular junction disorders can present in a variety of challenging ways, with the potential to mislead neurologists. Journal editors Prof. Philip Smith and Dr. Geraint Fuller begin with this subject as they talk through the latest issue Practical Neurology, for December 2024. The conversation moves to neck flexion and brain zaps, reflects on the undiminished importance of "general" neurology, and also touches on maternal epilepsy risks, frailty's impact on stroke patients, timely recognition of glaucoma, and sustainable practices for green physicians. To finish, there's the now-traditional recital of eponymous syndromes.

Read the issue: https://pn.bmj.com/content/24/6 

Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest podcast every month. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol.

Production by Letícia Amorim and Brian O'Toole. Editing by Brian O'Toole. Thank you for listening. 

The immune system is a recurring feature in the cases discussed in this edition of the Case Reports podcast. The first paper details the cases of two young women, sisters, presenting with overlapping conditions but resulting in tragically different outcomes (1:16). Both were in their twenties, had given birth recently, and developed limb weakness along with several other neurological symptoms. https://pn.bmj.com/content/24/5/422

Our second case is a 72-yo woman with a range of symptoms including diplopia, ptosis, myalgia, and worsening shortness of breath (21:27). She had had surgical resection of a malignant melanoma, and was receiving immunotherapy treatment. Her presentation resembled myasthenia gravis, but initial treatment did not yield a response. https://pn.bmj.com/content/24/5/428 

The case reports discussion is hosted by Prof. Martin Turner¹, who is joined by Dr. Ruth Wood² and Dr. Xin You Tai³ for a group examination of the features of each presentation, followed by a step-by-step walkthrough of how the diagnosis was made. These case reports and many others can be found in the June 2024 issue of the journal.

(1) Professor of Clinical Neurology and Neuroscience at the Nuffield Department of Clinical Neurosciences, University of Oxford, and Consultant Neurologist at John Radcliffe Hospital.

Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest podcast every month. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol.

"Could this presenting syndrome be caused by a neurotoxin?"

Oftentimes neurologists will pass over toxins when diagnosing. Yet disease caused by neurotoxins is widespread, with many having quite typical syndromes.  In the studio to discuss this is the first author of the October 2024 Editors' Choice paper, Dr. Frederick Vonberg¹. He draws attention to some hobbies and occupations to watch out for, the global prevalence of lead poisoning, presentations of botulism, and the origin of the infamous Mad Hatter syndrome. 

Read the paper:

Neurotoxicology: a clinical systems-based review

1. National Hospital for Neurology and Neurosurgery, Queen Square, London, UK

Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest episodes. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol.

This episode was hosted by PN's podcast editor Dr. Amy Ross Russell. Production by Letícia Amorim, Brian O'Toole, and Amy Ross Russell. Editing by Brian O'Toole.

The surgical sieve and Occam's razor may sound like familiar diagnostic metaphors, but what about Crabtree's bludgeon? These are just a few of the tools touched on by journal editors Prof. Philip Smith and Dr. Geraint Fuller, as they discuss the October 2024 issue of Practical Neurology. They cover recent publications on oligoclonal bands, neurotoxicology, methotrexate, carotid artery disease, epilepsy surgery, and how unsolved cases remain part of the "art of neurology". To finish, there is a conversation on the topic of neurology podcasts themselves. 

Read the issue: https://pn.bmj.com/content/24/5

Further reading:

The BMJ - What Three Wise Men have to say about diagnosis

JNNP - Neurotoxicology: what the neurologist needs to know

Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest podcast every month. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol.

Production by Letícia Amorim and Brian O'Toole. Editing by Brian O'Toole. Thank you for listening. 

This month's cases both feature sudden onset neurological syndromes. The first case (1:23) is that of a 26-yo Brazilian man who awoke from sleep with weakness in all four limbs. The signs suggest a possibility of Guillain-Barré syndrome or polio. A normal cranial nerve examination follows, with no unusual findings - https://pn.bmj.com/content/24/4/342 

A 69-yo woman is the subject of the second case (14:33), after she presents with sudden onset unsteadiness and slurred speech when getting out of bed. A stroke was initially examined for by CT head scan, proving unremarkable, but a subsequent MRI scan showed an intense midbrain lesion. The patient subsequently improved, but then returned three months later with occurrences of the same symptoms multiple times throughout the day - https://pn.bmj.com/content/24/4/310

The case reports discussion is hosted by Prof. Martin Turner (1), who is joined by Dr. Ruth Wood (2) and Dr. Xin You Tai (3) for a group examination of the features of each presentation, followed by a step-by-step walkthrough of how the diagnosis was made. These case reports and many others can be found in the August 2024 issue of the journal.

(1) Professor of Clinical Neurology and Neuroscience at the Nuffield Department of Clinical Neurosciences, University of Oxford, and Consultant Neurologist at John Radcliffe Hospital.

Genetic testing is a useful tool for any practising neurologist, but they must know how to interpret the results. This Editors' Choice podcast features two experts on the subject, Prof. Mary Reilly¹ and Dr. Christopher Record¹. They're in the studio to talk through their paper, covering the technology of genome sequencing itself, testing strategies, clinical use cases, and the constant changes in this developing field.

Read the paper:

Lessons and pitfalls of whole genome sequencing

1. Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK

Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest episodes. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol.

This episode was hosted by PN's podcast editor Dr. Amy Ross Russell. Production by Letícia Amorim, Brian O'Toole, and Amy Ross Russell. Editing by Brian O'Toole.

Journal editors Prof. Philip Smith and Dr. Geraint Fuller discuss the August 2024 issue of Practical Neurology, with room for mystery, history and practical advice. In particular, they cover topics like whole genome sequencing, foot surgery for Charcot-Marie-Tooth disease, safe prescribing in steroids, and fertility treatment for the epileptic. There are also good reasons for dusting off the old optokinetic nystagmus drum, and a touching story of neuro palliative care.

Read the Highlights - https://pn.bmj.com/content/24/4/261 - and the full issue - https://pn.bmj.com/content/24/4.

Please subscribe to the Practical Neurology podcast on your favourite platform to get the latest podcast every month. If you enjoy our podcast, you can leave us a review or a comment on Apple Podcasts (https://apple.co/3vVPClm) or Spotify (https://spoti.fi/4baxjsQ). We'd love to hear your feedback on social media - @PracticalNeurol.

The PN podcast is produced by Letícia Amorim and edited by Brian O'Toole. Thank you for listening.

Two highly unusual cases in this edition of Case Reports. The first case describes a 64-yo woman presenting to the emergency department with a five day history of bizarre behaviours (1:45). A BBC radio show prompts her, out of character, to reflect aloud about her childhood, and she experiences recurrent periods of unresponsiveness followed by intense agitation. She was kept in hospital for scans and discharged after two weeks, but returned soon after with a similar presentation - (link)

A lifetime bodybuilder is the patient in the second case (21:12), with a practice of anabolic steroid injection over several decades. He presents with a three year history of unsteadiness when walking and tingling in his feet, as well as reduced dexterity. His symptoms are found to be brought on by a toxicity from an unexpected source - (link)

The case reports discussion is hosted by Prof. Martin Turner (1), who is joined by Dr. Ruth Wood (2) and Dr. Xin You Tai (3) for a group examination of the features of each presentation, followed by a step-by-step walkthrough of how the diagnosis was made. These case reports and many others can be found in the June 2024 issue of the journal.

(1) Professor of Clinical Neurology and Neuroscience at the Nuffield Department of Clinical Neurosciences, University of Oxford, and Consultant Neurologist at John Radcliffe Hospital.

Neurodegenerative disease is the subject of this month's Editors' Choice podcast, with Dr. Patrick Cullinane¹ and Dr. Zane Jaunmuktane.¹ They join the podcast for an overview of brain examination, explaining the process of protein misfolding, the spread of pathology through the brain, and what new discoveries can tell us about old diseases.

Read the paper: Pathology of neurodegenerative disease for the general neurologist

1. Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK

This episode was hosted by PN's podcast editor Dr. Amy Ross Russell. Production by Letícia Amorim, Brian O'Toole, and Amy Ross Russell. Editing by Brian O'Toole. Special thanks to The Podcast Studios Dublin for their assistance with the recording of this episode, and thank you for listening.