How To Find Patterns (and personalities?!) in Diseases to make a Diagnosis.

See this video, and think about it for a while.

Think about it and make your observations. For the sake of this discussion, let us cut to the chase. I will give you the diagnosis first, and together we will reverse engineer the case.

How To Work Up a Case and Arrive at a Diagnosis

An illustrative guide on working up problems...

A nervous father comes to you with his little girls. One is 7 and the other is 4... (1/n) He says ever since they were able to walk, he has noticed that they keep falling over.
When they walk, they sway precariously from side to side.

When their mother mother offers them a sweet, they find it difficult to grab it.

I asked the is lady what’s in my hand and she said “pen”.
Correct.

But when I asked her to take it, this is what happened…

Pause and think. What’s happening here If you thought Cerebellar ataxia, it’s incorrect!
This is a rare symptom.

Despite seeing, she is not able to reach the target.
There is a clumsiness in OBJECT BOUND movement, despite visual input.
OPTIC ATAXIA

The Fiercest Medical College Rivalry
The JJ (Grant Medical College) and KEM (Seth GS) rivalry was once as fierce as India and
Pakistan or Manchester United and Liverpool. Gryffindor vs Slytherin! This old violent tradition has regrettably mollified
over the years, yet remains a shining part of these two institutes that combined share 3 centuries of fine history!

This one is for anyone to try!

My Guru made a diagnosis on seeing this. Put on your detective hat and try and solve it! The patient wasn't on the bed when Prof. Katrak started his rounds. He saw these shoes lying bedside carefully, then asked us to get them cleaned for a re examination. His deduction (induction to be precise)

The left shoe seems more worn out than the right, specially at the heel

58 year old lady with no prior co-morbidities. Listen to her story. It started about a year ago.

First, it seems that her right thumb got weak. A few months later, she says that the weakness affected the left hand, thumb and then little fingers

This century old portrait is from the library of my Grant Medical College in Mumbai!
Who is he? How is he related to the famous Gray's Anatomy? How did he end up here?
A fascinating story from the archives of medicine! The gentleman in this fine portrait is Henry Vandyke Carter. If you have ever seen earlier editions of Gray's anatomy, you will have noticed the gorgeous illustrations in them. Arguably, these illustrations made Gray's Anatomy a superlative text

A young boy with severe progressive cerebellar ataxia, involuntary movements (posturing of hands), cognitive decline with seizures (including myoclonus).
His father had similar albeit milder symptoms, at an older age. Thoughts?

#MedTwitter #NeuroTwitter Let's break it down to the basics. Always start from Epidemiology! Progressive disorder that is affecting successive generations with suggestion of anticipation! that really narrows down the differential to select disorders

An illustration of the importance of pattern recognition in Neurology. At the outset, let me reveal this is a Myopathy. Try to note how this particular one is different from others. 10 years history

As with most myopathies, limb girdle weakness is present But wait! Foot drop and prominent distal muscle weakness in a muscle disease??

Distraught parents bring their son to you. They tell you that he has been having weakness of his left hand since 1 year. With wasting. No sensory symptoms. They have been told, Motor Neurone Disease . You look at his hand and smile reassuringly. Why? First things first, the demographics don't fit ALS. He's a young boy. Secondly, The disease seems quite restricted. Third, no signs of upper motor neuron disease. Finally, this OBLIQUE AMYOTRPOHY is classical and clinches a diagnosis of HIRAYAMA DISEASE

#MedTwitter #NeuroTwitter

Some Tips to select a Residency Programme

1. Make sure you get to take INDEPENDENT DECISIONS

2. Department is supportive, not toxic. A toxic department even in the most reputed institutes may hamper your growth

#NEETPG2023RESULTS 3. Look for colleges with super speciality rotations

4. Patient load should not be the only driving factor, as long has there are enough cases to learn, it’s just a number

5. Academics is good to have, but a motivated student can compensate for a lack of it IMO

You are again asked to see a patient with GBS. A young man in his 30's, does not seem perturbed by his acute onset of weakness of lower limbs. He says he has been through it on many occasions before. This particular bout was triggered after a hearty meal at a wedding. Thoughts? An important differential to GBS are the Channelopathies. This gentleman had low levels of Potassium, and correction of the same completely reversed his symptoms! On evaluation, he was diagnosed with a Channelopathy
Simplified Approach

#Neurology

Young boy w/ acute onset quadriparesis with areflexia, admitted to ICU with "GBS". You happen to glance at Urine Bag. something is off! The old urine is darker!? The patient is squealing with abdominal pain. Relatives tell you- seizures in the past
Thoughts?

#MedTwitter This surely doesn't feel like a routine GBS. Young boy with seizures and abdominal pain, think of the Porphyrias!

Our patient probably has one of the acute Porphyrias. Confirmation of the type eluded us unfortunately since genetic analysis is expensive. Probably AIP

2 brothers in their 30’s presented to us with progressive Cerebellar ataxia. On examination, there is slightly restricted vertical gaze.

Thoughts ?

#MedTwiter #NeuroTwitter #Neurology One of the typical features of Niemann-Pick C disease is SUPRANUCLEAR VERTICAL GAZE PALSY

Ataxia, Dystonia Psychomotor Regression are common

GELASTIC CATAPLEXY is another common feature

Resources to study #Neurology

Adams and Victor’s. By far my favourite textbook.
The book is more clinically oriented, coloured with anecdotes and mental models. Reading it feels like seeing a pt in the ward/OPD

#MedTwitter #neurotwitter It has elements of philosophy, history and is written eloquently.
Whimsical, yet profound, it’s teachings stay with me. Added bonus, my Guru in Neurology finds mention in the text 🙃 I’d recommend this for #mbbs #md and #dm students

A fascinating symptom in #neurology is #Alien Hand syndrome
If anyone has seen @StanleyKubrick ‘s great film Dr. Strangelove, you might have wondered what’s wrong with the titular character

His hand has a #mind of its own!!!

#cinema #neurotwitter #MedTwitter Simplifying , for carrying out bimanual planned movements, we need a Supplementary Motor Cortex (SMA) (left frontal lobe). This communicates to the opposite side via the corpus callosum. Lesions in any will impair proper bimanual function and cause an “alien limb”#neuroanatomy