PRESENTING COMPLAINT
67 year-old gentleman with PMH of T2 diabetes, HTN, OA, bilateral knee replacement (2009) is referred to neurology services for evaluation of difficulty walking and slow progress in mobility after his knee surgery.
HISTORY OF PRESENTING COMPLAINT
The patient had 2 falls in the past 2 months. Progress with physios is very slow. Referred to his GP because of slow movement and slurred speech and symptoms of urinary frequency. GP prescribed antifungal treatment (no idea why? apparently his GP doesn't know that neurology exists;)
A month later, the patient experienced rapid decline of his mobility needing a walking stick initially and using a wheelchair currently. In his letter to neurology, the GP describes that patient is feeling his foot is glued to the floor and has enormous difficulty lifting it off.
Patient has occasional choking on bread and weight loss of 1 Kg over 6 months. But no smell, visual or taste problems. No problems with chewing, sleep disturbance. Upon further questioning, the patient also denies experiencing postural dizziness and there is no sudden bouts of uncontrollable laughter or crying (what do neurologists call this symptom? -Hint: common in patients with stroke)
OTHER HISTORY
Drug History - aspirin, amlodipine, omerprazole, insulin homologue
Family History - irrelevant
Social History - ex-smoker, drinks no alcohol
ON EXAMINATION
The patient appeared relaxed and slightly underdressed. Despite a room full of neurologists, he was very unnerved, and was joking and laughing. Dealing with audience questions, he would answer the question and then say 'Next'!!
His speech is slurred and dysarthric, better described as strangulated speech with words produced from the back of the mouth. In addition, there is an element of staccato speech when asked to say 'British constitution' or 'West Register Street'.
Gait- magnetic with a degree of stamping and difficulty of initiation. Stride is really slow at start, but improved slightly with 3rd and 4th step with increasing speed. Postural instability with stooped posture. Normal base.
CRANIAL NERVES
Normal range of eye movements. No restriction of upward gaze. No diplopia, squint or ptosis. Saccadic eye movement is normal. facial and mastication muscles are not weak or wasted. Absent jaw jerk. No wasting, fasciculation or weakness of the tongue. Rest of exam is also normal.
UPPER AND LOWER LIMB NEURO EXAM
Wasting and fasciculation of right wrist extensors. Tone is increased in upper and lower limbs - it is velocity dependent with a spastic catch. There is mild cogwheel rigidity in upper limbs. Global hyperreflexia (more predominant on R>L upper limbs). Positive Hoffman's reflex. No clonus and upper plantars are equivocal.
Finger-thumb test showed time-dependent reduction of velocity and amplitude of movement with 'fatiguability'.
No dysmetria, intention or resting tremors, dysdiadokokinesia or nystagmus.
INVESTIGATIONS
A number of investigations were performed. Results of investigations are provided upon your request.
What is the diagnosis? and Why?
Hint: Start by naming pathways in the nervous system, the involvement of which may account for this patients signs. Findings from the neuro exam should allow you to localize the lesion.
Progressive supranuclear Palsy, mainly due to the fact that the patient has a history of falls plus parkinsonian symptoms. What are the results of the investigations if you don't mind me asking?
ReplyDeletewell:
ReplyDeleteI need few more clinical examination stuff:
???Postural hypotension/ and his HR,
??? how is patient memory
??? how did the falls happen, how did the weakness progress
From the history, patient has history of falls, ? polyuria (or is it incontence) ,, and behavioural changes {pt laughs and behave strangely in presence of audience .... ?? could be normal intracranial pressure hydrocephalus!
given that the patient has Parkinsonian gait (striato-nigral pathway) put few disorders on the list:
Adding to that he has history of choaking with food + dysarthria with normal other cranial nerves (bulbar/pseudobulbar) +
signs of UMN (the hyper-reflexia + hypertonia) + LMN lesions ( fasciculation + wasting) .. the list of things that would give you combined upper and lower are:
1)syringomyelia
2) Amyotrophic lateral sclerosis
3) cervical lesions (infection/demyelination/etc)
so my main diagnosis would be:
Amyotrophic lateral sclerosis plus syndrome (ALS + Parkinson)
would love to know the diagnosis!
Very interesting replies indeed.
ReplyDeleteAs for the additional clinical details, I'll provide what's we truly know about the patient from his records and history he gave us.
There was no drop in the standing Bp - no postural hypotension. Heart rate is 70 beats/min, regular and sinus rhythm. The minimental state examination score was 28/30. No backwards falls were recorded. Falls were thought of as mechanical due to his knee problem. The clinical course of his weakness gradual onset and progressive over the period of months. No proximal or distal weakness could be delineated from the examination, although the patient presented with magnetic gait (difficulty lifting foot off the floor). However, on examination, the upper limb flexors were stronger than extensors and lower limb extensors were stronger than flexors, a pattern descriptive of pyramidal weakness seen in UMN lesion (ie antigravity muscles stronger).
Thank you for suggesting normal pressure hydrocephalus (NPH). It's an interesting possibility which didn't come across my mind. NPH is thought to result from impaired absorption of CSF at arachinoid villi. It presents with at triad of gait ataxia (magnetic gait similar to Parkinsonian one)/apraxia (inability to perform motor tasks despite normal corticopspinal tracts), dementia (mainly frontal in origin with apathy and inattention) and urinary incontinence. ie 'wet, wobbly and wacky'!!
However, the patient had no dementia or a degree of cognitive impairment is realized. In addition, there is evidence of spasticity and extrapyramidal features that do not fit NPH. MRI brain also showed normal lateral and 4th ventricular sizes.
Strangulated speech from the back of the mouth is typical of pseudobulbar speech. This, together with dysphagia and emotional lability (disinhibited behvaiour although lacking typical sudden bouts of crying) are highly suggestive of pseudobulbar palsy (PBP). PBP is a UMN lesion affecting the upper motor neurons innervating motor nuclei of the brainstem which supply bulbar muscles. It usually presents with a jaw jerk and slow spastic tongue, features which were absent in this presentation.
Bulbar palsy results from damage to the LMN supplying bulbar muscles and presents with nasal speech vs PBP.
ALS plus syndrome is a possible but highly improbable because the appearance of Parkinsonian features on the top of ALS related features occurs when ALS patients survive longer than expected on ventilation. So PD is a late rather than early complication. I know it's confusing sir so I apologize for this case is atypical but very realistic I saw 2 days ago!! If we remove the LMN signs from our checklist, ALS could be removed form differential. But how? well, the patient had diabetes for 25 years. This might have resulted in a diabetic neuropathy which accounts for distal LMN signs.
I agree with you sir regarding the involvement of substantia nigra. There is definitely Parkinsonian features including Parkinsonian gait, cogwheel rigidity and definite hypokinesia.
Hypokinesia is demonstrated from the finger thumb test. Although the patient has a predominant spasticity syndrome, spasticity shouldn't be mistaken for slowing of the finger-thumb movement since movement of fingers opposing the thumb started with good speed and amplitude declining rapidly with time, a fatiguability feature which is highly suggestive of hypokinesia.
So we end up with predominant UMN signs (in limbs=spasticity + in bulbar muscles= PBP) a + extrapyramidal or Parkinsonian signs + possible autonomic involvement (urinary incontinence although this needs further clarification with bladder function studies).
The investigations included normal bloods and CSF. MRI brain normal. MRI spine shows no nerve root impingement.
In summary what could cause Parkinsonism plus spasticity syndrome with possible autonomic dysfunction and behavioural disturbance (Staccato speech suggests possible cerebellar involvement although this might equivocal since there were no other cerebellar features.)?
ReplyDeletemaybe it's one of the tauopathies - probably corticobasal degeneration or it could also be multiple system atrophy
ReplyDeleteVery good - could you explain why it could be CBD or MSA?
ReplyDelete