Posts about neurology from 2 of our recent medical students

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Posted by Ilya Grinberg:

Last week I participated in the MDA clinic and there was one patient who really stuck out in my mind. He was a 17 year old male who had Duchenne Muscular Dystrophy. He was completely wheelchair-bound and could barely move any of his extremities. This obviously meant that he was completely reliant on people to take care of him and that he could not participate in the day to day activities that a normal person could. He was also starting to have breathing difficulty and probably would need to start therapy on a ventilator soon too.

DMD is an x-linked recessive disorder that affects boys from an early age. It affects 1 out of 3600 boys so it is not too uncommon. The disease is due to a mutation of the structural protein Dystrophin which is normally found in all muscles. The protein is found on the X chromosome which explains why it is an X-linked disease. Patients are usually born normally but will start gradually developing symptoms during the first few years of life. The first observations are usually progressive muscle weakness in proximal muscles in addition to muscle atrophy. One of the key clinical signs in DMD is calf psuedohypertrophy which occurs due to fibrosis of the necrotic muscle tissue. Another common finding that presents early on is Gower’s sign, where the patient uses his arms to stand up due to weakness in the proximal leg muscles.

Click here to find out more about DMD.

 

Posted by John Soliman:

What is Neurology one may ask? Prior to and during medical school I feel like the exposure to the study of neurology was very limited. Interaction between neurological patients and medical professions was far and few between. I have had little encounters with the realm that lies ahead. Prior to starting the clerkship I was very intimidated due to my lack of knowledge and ignorance. I can say jokingly I barely knew how to spell Neurology. Even the basics of neurology such as anatomy was daunting usually getting hung up on learning one part or area as seen in this video. I have to say I had something in common with Pinky.

After the 4 weeks of neurology I have realized that neurology covers a broad realm of knowledge and information on the central and peripheral nervous system.

During my clerkship I was lucky enough to be exposed to many patients encountering a lot of this medical conditions and problems. I was able to identify and correlate symptoms with disease states and vice versa.

The most memorable experience was the MDA clinic. I was able to meet and was integrated into the care of a lot of the Myotonic dystrophy patients. I was able to see hear their day to day life experience, talk to their care givers and be able to help with their care. After seeing patients like this it really brought “problems” Into perspective. The amazing thing was the broad range of how these medical conditions affect each individual differently.

I had the opportunity to see two brothers who are both affected with Myotonic Dystrophy. One brother can walk, talk and act normal with minimal weakness while the other was wheel chair bound. Talking to them brought home how a muscular dystrophy can affect the lives of affected individuals. Myotonic dystrophy is an autosomal dominant genetic process which means it can affect 50% of the carriers offspring. This may affect a family’s decision on having kids both mentally and psychologically. In this specific case, one of the brothers and his wife decided to adopt children due to the high risk of having a child with myotonic dystrophy. Dealing with something like this is a full time job on its own so it can be draining mentally, physically and financially on families.

Overall the experience has been great as I have gotten to see patients with medical conditions that I may not be able to see again. This clerkship has been knowledgeable and I has encountered a broad real of neurology that I never had experienced in the past.

Click here to find out more about Myotonic Dystrophy.

Click here to find out more about MDA Clinic at Monmouth.

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The Anatomy of a Medical Mistake

Zeebrugge ferry victims remembered

On March 6 1987 the unthinkable happened. The roll-on roll-off passenger ferry The Herald of Free Enterprise left the Belgian port of Zeebrugge with it’s bow doors open, and capsized within moments, killing 193 passengers and crew:

The immediate cause of the sinking was found to be negligence by the assistant boatswain, asleep in his cabin when he should have closed the bow-door.

But the official inquiry placed more blame on his supervisors and a general culture of poor communication in the ferry company P&O European Ferries. The first officer was required to stay on deck to make sure the doors were closed, but apparently left the deck with the bow doors still open in the expectation that the assistant boatswain would arrive shortly. The boatswain, who is believed to have been the last person on the deck before the disaster was later asked why he did not close the doors given there was no one else there to do it.  He said it was “not his duty”.  Finally, the captain assumed that the doors had been closed when he set sail – he could not see them from the wheelhouse owing to the ship’s design and the fact that the shipping company had previously decided not to retrofit an indicator light in the wheelhouse.

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Serious medical errors often occur under similar circumstances, including flawed or violated safety protocols and failure of communication.

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For example, there were three instances of wrong side brain surgery at the Rhode Island Hospital in 2007. One time an experienced brain surgeon insisted to a nurse he knew what side of the head to operate on — but got it wrong.  Another time, a resident cut into the wrong side of a patient’s head after skipping a pre-op checklist.  In the third case, the chief resident started brain surgery in the wrong place, and the nurse didn’t stop him.

These errors happened despite required operating-room precautions adopted by the medical profession a few years ago to prevent such “wrong-site surgery” mistakes, including checklists, “time-outs” to double-check everything is correct, and indelible markers to show the surgeon where to cut.

These mistakes at Rhode Island Hospital suggest that such precautions can still be thwarted by the human element — ego and overconfidence on the part of surgeons, and timidity on the part of nurses too afraid to speak up when they see something about to go wrong.

Ongoing efforts to improve patient safety include: The use of information technology, such as hand-held bedside computers, to eliminate reliance on handwriting for ordering medications and other treatment needs. Avoiding similar-sounding and look-alike names and packages of medication. The standardization of treatment policies and protocols to avoid confusion and reliance on memory, which is known to be fallible and responsible for many errors.

However, the most important patient safety step is adopting a culture of patient safety at the hospital.

All staff must be encouraged to speak up if they identify a problem or mistake.

If the boatswain or first officer had simply flicked the switch to close the doors, or notified the captain they were still open, disaster could have been avoided on March 6, 1987.

George Huntington, On Chorea

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George Huntington (1850-1916) was a medical practitioner in Dutchess County New York.

His father and grandfather had both been doctors, and his family had lived on Long Island since 1797.

He gave his classic presentation, “On Chorea”, at the Meiga and Mason Academy of Medicine in Middleport Ohio in 1972, and this was subsequently published in the Medical and Surgical Reporter of Philadelphia on April 13, 1872.

This took place just one year after he graduated from his medical training at Columbia University.

He later explained his interest in the condition that now bears his name:

Over 50 years ago, in riding with my father on his rounds, I saw my first case of the “disorder”, which is the way the natives always referred to the dreaded disease.  I recall it as vividly as though it had just occurred but yesterday.  It made a most enduring impression on my boyish mind, an impression which was the very first impulse to my choosing chorea as my virgin contribution to the medical lore.  Driving with my father through a wooded road leading from East Hampton to Amagansett we suddenly came upon two women both bowing, twisting, grimacing.  I stared in wonderment, almost in fear.  What could it mean?  My father paused to speak with them and we passed on.  Then my Gamaliel-like instruction began; my medical instruction had its inception.  From this point on my interest in the disease has never wholly ceased.

Huntington’s disease (HD) is now know to be caused by a genetic mutation.  It is inherited in an autosomal dominant fashion, so that any child of an affected person typically has a 50% chance of inheriting the disease.  The mutation is a triplet repeat, so the genetics of HD lead to anticipation, a phenomenon whereby the disease may begin earlier and more severely in each successive generation.

HD can present at any age, but most often begins around 35-44 years with psychiatric disturbance such as depression or forgetfulness.  Neurological manifestations such as unsteady gait and the  jerky body movements (chorea) noted by George Huntington come later, followed by a progressive dementia.

Genetic testing is available, but pre-symptomatic testing for family members, who are at increased risk for the disease, is controversial since there is no treatment for HD.

Find out more about HD from the Huntington’s Disease Society of America.

Limbic Encephalitis

Post prepared by Precious Ramirez-Arao, Monmouth Medical Center PGY3

A 60 year-old female was found lethargic lying in a pool of feces by roommate.

EMS was called and was immediately brought to the hospital.

In the emergency department she had a witnessed generalized tonic-clonic seizure.

Her roommate relates she had episodes of confusion and short-term memory loss over the past few weeks.

She remained lethargic over the next 72 hours in the hospital.

48-hour EEG monitoring showed diffuse 2 to 3 Hz delta slowing with periodic lateralized epileptiform discharges emanating from the left frontal temporal region.

PLEDS

T2 weighted image of the brain showed signal abnormality of the left mesial temporal lobe and the pulvinar with diffusion restriction in the left hippocampus consistent with limbic encephalitis.

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Limbic encephalitis (LE) is a subacute syndrome of seizures, personality change and cognitive dysfunction, typically evolving over days to weeks.

Autoimmune and paraneoplastic forms have been described. The most common neoplasms associated with paraneoplastic LE are lung cancer (usually small cell), thymoma, ovarian or testicular teratoma, breast cancer and Hodgkin lymphoma. The associated autoantibody depends on the tumor type. Lung cancer and thymomas are associated with anti-VGKC while ovarian or testicular teratomas are associated with antiNMDA antibodies.

Neurologic symptoms can precede oncologic diagnosis for several months to years and initial CT scans are typically unrevealing.

Nevertheless, prompt and thorough evaluation for malignancy including PET and CT scan of the chest, abdomen and pelvis should be initiated. Symptomatic treatment includes corticosteroids, plasmapharesis and intravenous immune globulin.

 

Broca’s Aphasia vs. Aphemia

Aphasia is a disorder of speech an language caused by a strategic brain lesion.

Broca’s aphasia is a non-fluent type of aphasia with preserved comprehension caused by a lesion in the dominant (usually left) frontal lobe.

Broca’s affects both speech and writing. Because comprehension is spared, patients can monitor their own speech and become frustrated.

Affected patients will often find some alternate means of communication, other than speaking or writing, like Breaking Bad’s Hector Salamanca:

Aphemia is similar to Broca’s aphasia, but is caused by smaller lesions such that affected patients cannot speak but can still communicate with writing:

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Aphemia

Locked in syndrome vs. coma

Coma can be caused by diffuse injury or dysfunction of the brain’s cerebral cortex or a by a lesion affecting the reticular activating system in the brain stem.  A comatose patient is unable to consciously feel, speak, hear, or move.

Brain death is a very severe form of coma with complete loss of brain function.  Once this has occurred, the affected patient is legally dead even though the heart, circulation and lungs may still be supported by artificial means. Patients classified as brain-dead can have their organs surgically removed for organ donation.

A patient with locked in syndrome can appear like they are comatose because they can’t move or speak, but they are aware and alert.   However, they can usually blink or move their eyes, and may be able to establish communication with others in this way.

There are numerous reported cases of patients with locked in syndrome after strokes or head trauma being misdiagnosed as comatose or even brain dead, some narrowly avoiding having their organs harvested.

Stroke Patient Hears Doctors Discuss Organ Donation

If you ever suspect a comatose patient may actually be locked in, you can try to establish communication with eye blinks, or get an EEG which (unlike coma) will be normal and reactive in locked in syndrome.

Patients with locked in syndrome can regain some quality of life:

This plight was made famous in the movie “The Diving Bell And The Butterfly” which was based on a memoir written by journalist Jean-Dominique Bauby.

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Jean-Dominique Bauby