negligence Uncategorized

The 7 deadly sins of neurological misdiagnosis

The practice of medicine is a finely balanced art. Clinical features are often very subtle, and the ground is littered with booby traps. You could say medicine is a minefield, strewn with mimics and chameleons.

The Deadly Fat-tail Scorpion. Shaan Hurley on Flickr.

This explains why diagnostic error is rife in medicine, and this is perhaps more so in neurology.  Admittedly, some misdiagnoses only cause minor emotional trauma to the patient…and some  embarrassment to the neurologist. Other missed diagnoses are however supremely consequential because they prevent early curative treatment, and result in death or severe disability.

By Nancy Worden – Flickr Photo Stream of Nancy Worden:, CC BY-SA 2.5, Link

Below is our list of the deadliest neurological misdiagnoses. To limit ourselves to the iconic number 7, we had to exclude many serious diseases. These are conditions where the diagnosis, even though critical, is often obvious such as stroke. We have also excluded misdiagnoses which almost uniformly lead to death, such as brain tumours and motor neurone disease (MND). Below therefore are the 7 deadly sins of neurological misdiagnosis:  click on the links for their disastrous fallouts.

Deadly Sins. See-ming Lee on Flickr.



Subarachnoid haemorrhage (SAH)

Giant cell arteritis (GCA)

Idiopathic intracranial hypertension (IIH)

Cerebral vein thrombosis (CVT)

Cervical artery dissection (CAD)



Deadly Red. Kevin Rheese on Flickr.

Please feel free to disagree with this list, and recommend your own top 7.

Why not also check out our previous related blog posts:

The 12 most hazardous neurological pitfalls…and their checklists

The 13 most dreadful neurological disorders…and the groups standing up to them

The 7 most devastating viral neurological infections

The 7 most ruthless bacterial infections of the nervous system

The 8 most parasitic infestations of the nervous system


Multiple sclerosis Peripheral neuropathy Uncategorized

Is CMT-X a risk factor for MS?

X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association

Koutsis G, Breza M, Velonakis G, et al.

JNNP 2019; 90:187-194.



X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary neuropathy caused by mutations in GJB1 coding for connexin-32, a gap junction protein expressed in Schwann cells, but also found in oligodendrocytes. Four patients with CMTX developing central nervous system (CNS) demyelination compatible with multiple sclerosis (MS) have been individually published. We presently sought to systematically investigate the relationship between CMTX and MS.


Over 20 years, 70 consecutive patients (36 men) with GJB1 mutations were identified at our Neurogenetics Unit, Athens, Greece, and assessed for clinical features suggestive of MS. Additionally, 18 patients with CMTX without CNS symptoms and 18 matched controls underwent brain MRI to investigate incidental findings. Serum from patients with CMTX and MS was tested for CNS immunoreactivity.


We identified three patients with CMTX who developed clinical features suggestive of inflammatory CNS demyelination fulfilling MS diagnostic criteria. The resulting 20-year MS incidence (4.3%) differed significantly from the highest background 20-year MS incidence ever reported from Greece (p=0.00039). The search for incidental brain MRI findings identified two CMTX cases (11%) with lesions suggestive of focal demyelination compared with 0 control. Moreover, 10 cases in the CMTX cohort had hyperintensity in the splenium of the corpus callosum compared with 0 control (p=0.0002). No specific CNS-reactive humoral factors were identified in patients with CMTX and MS.


We have demonstrated a higher than expected frequency of MS in patients with CMTX and identified incidental focal demyelinating lesions on brain MRI in patients with CMTX without CNS symptoms. This provides circumstantial evidence for GJB1 mutations acting as a possible MS risk factor.

This paper is now cited in the neurochecklist:

Multiple sclerosis (MS): unusual presentations and associations

Abstract link

By Benefros at English WikipediaOwn work (Original text: Own work, originally from en.wikipedia; description page is/was here.), CC BY-SA 3.0, Link

Phantoms in the Brain

Phantoms in the Brain Authors: V. S. Ramachandran and Sandra Blakeslee Synopsis The author of this book, one the leading figures in neuroscience, unapologetically declared that his intention was to write ‘a popular book on the brain’. To accomplish this goal, he recounts seemingly endless ‘true-life stories‘ of fascinating neurological disorders (page xiii). Like a […]

via Phantoms in the Brain — The Doctors Bookshelf


A Portrait of the Brain

A Portrait of the Brain Author: Adam Zeman Synopsis How do you sketch a vivid profile of the most perplexing organ in the body? How do you portray the intricate workings of what is, ‘by a very long way, the most complex entity we have yet encountered in the universe‘? (page 36). The author of […]

via A Portrait of the Brain — The Doctors Bookshelf


Reaching Down the Rabbit Hole 

Reaching Down the Rabbit Hole Authors: Allan H. Ropper and Brian David Burrell Synopsis This book is about the day-to-day practice of one of the leading neurologists in the world. It explores his challenging work in one of the most prestigious of hospitals, the Brigham and Women’s Hospital– ‘a place where the strangest and challenging […]

via Reaching Down the Rabbit Hole  — The Doctors Bookshelf


The Man Who Mistook His Wife for a Hat

The Man Who Mistook His Wife for a Hat Author: Oliver Sacks Synopsis This book is an exhilarating excursion into the world of some the most intriguing neurological disorders. The main theme linking the stories is the detailed narrative of each case study. The author’s trademark is his ingenious capacity for probing beneath the […]

via The Man Who Mistook His Wife for a Hat — The Doctors Bookshelf


10 fascinating books about the brain…written by those who know it best

Today is World Brain Day! And we are celebrating with an appropriate series of book reviews. We will be exploring 10 excellent books about the brain. But these are not just any set of brain books. These are books written by those who know it best. As neurologists, neuroscientists, and psychologists, the authors spend, or […]

via 10 fascinating books about the brain…written by those who know it best — The Doctors Bookshelf

General Neurochecklists updates Uncategorized

The 20 most popular neurochecklists blog posts of 2018

2018 started a 100 posts ago.

A busy year for the blog.

How time flies!

By Chris Willis – originally posted to Flickr as Antique Clock Face, CC BY 2.0, Link








A year of asking questions

And seeking answers

One blog post at a time.

By AnsonloboOwn work, CC BY-SA 4.0, Link

So which of our blog posts…

Old or new

Attracted the most attention in 2018?

Smile! Sean Jackson on Flikr.







Watch out for our next blog post…

The 20 most interesting neurological questions of 2018!



Is PFO closure advisable following cryptogenic stroke?

Closure of patent foramen ovale for cryptogenic stroke patients: an updated systematic review and meta-analysis of randomized trials.

Niu X, Ou-Yang G, Yan PF, Huang SL, Zhang ZT, Zhang ZH.

J Neurol 2018; 265:1259-1268.




This systematic review and meta-analysis was performed to investigate the efficacy and safety of transcatheter device closure (TDC) plus anti-thrombotic drugs over medical management alone for patients with cryptogenic stroke and patent foramen oval.


PubMed, Embase and Cochrane Library database were searched for randomized controlled clinical trials (RCTs). The primary endpoint is the composite of stroke and transient ischemic attack. The secondary endpoints are all-cause mortality, total serious adverse events, atrial fibrillation and bleeding.


Five RCTs with a total of 3440 participants were included. TDC significantly decreased the risk of primary endpoint when compared to medical therapy alone (RR 0.54, 95% CI 0.43-0.69). Further subgroup analyses showed that patients with male gender and with substantial shunt size of foramen ovale significantly benefited from TDC as compared to those with female gender and with no substantial shunt size of foramen oval separately. Moreover, TDC was superior to medical therapy with anti-platelet drug alone (not with anti-coagulation). On the other hand, the incidence of atrial fibrillation was higher in TDC group (RR 4.49, 95% CI 2.02-9.97), with the risk of other adverse events equivalent between the two groups.


Transcatheter device closure (TDC) plus anti-thrombotic drugs is superior than medical therapy alone for secondary prevention of stroke, especially for those with male gender and with substantial shunt size of foramen ovale. Though it may increase the risk of postoperative atrial fibrillation, it would not bring higher risk of all-cause mortality, total adverse events and bleeding.

This article is referenced in the neurochecklist:

Patent foramen ovale (PFO) and stroke

Abstract link 1

TBI. Army Medicine on Flikr.