Disorders of the spinal cord and motor neurone disease Question Bank

A 24-year-old Armenian male presents to the Emergency Department with a 3-day history of progressive bilateral leg weakness and sensory loss. He has a past medical history of asthma, fibromyalgia and recurrent orogenital ulcers. 

On arrival he is febrile and unable to walk unaided. His upper limbs and cranial nerves are normal. Lower limb examination reveals symmetrical weakness of hip flexion (3/5), knee flexion (4-/5) and ankle dorsiflexion (4-/5). His knee jerks are brisk with spreading and ankle jerks brisk. Plantar responses are mute. There is reduced perception of pin prick to below the ribs, vibration sensation is lost to the anterior superior iliac spine, and joint position sensation is lost to the ankles. You notice papulopustular lesions on his legs and face. 

His MRI reveals a longitudinally extensive myelopathy with a positive bagel sign. 

What is the likely cause of his symptoms?

A 19-year-old Afro-Caribbean female presents to the Emergency Department with a 4-day history of paraesthesia in her lower limbs and unsteadiness on her feet. She studies dentistry at university and frequently attends socials. She takes the combined oral contraceptive pill and received a short course of nitrofurantoin 3 weeks ago for a urinary infection. 

Examination reveals normal cranial nerves. Ankle jerks are absent but other deep tendon reflexes are present and symmetrical. Babinski’s sign is positive bilaterally. Romberg’s sign is present. Power of hip flexion is 4/5 on the MRC power scale but power is otherwise 5/5 throughout. Joint position sense is reduced to both ankles and vibration lost to the tibial tuberosities. 

Blood work reveals Hb 120, MCV 102 fl, white cell count 9 x 10*9 cells, creatine kinase 62U/L(range: 40-320 U/L ), B12 180ng/ml (normal 200-900 ng/ml), folate 6ng/ml (normal: >4ng/ml), TSH 3mU/l (range: 0.38-5.3mU/l), HbA1c 30mmol/mol, zinc 12.3umol/l (10.1-20.2umol/l). Copper, homocysteine, methylmalonic acid and vitamin E are pending. An MRI whole spine reveals an inverted V sign on axial imaging. 

What is the likely diagnosis?

A 59-year-old gentleman attends the Neurology Outpatient Department with a progressive 2-year history of upper limb weakness. He has no significant past medical history. 

On examination, you note symmetric wasting proximally and examination reveals weakness of shoulder abduction (MRC grade 2/5). Reflexes are brisk with a positive Hoffman’s sign. Spinothalamic and posterior column sensory testing is normal. Lower limb and cranial nerve examinations are normal. 

EMG reveals large polyphasic potentials with fibrillations and positive sharp waves. 

What is the likely cause?

A 39-year-old woman has a 5-year history of deteriorating gait. Her paternal uncle passed away with a neurological disorder but she does not know the underlying diagnosis. 

On examination, she has spasticity in the lower limbs with extensor plantar responses and clonus. Sensory examination is normal.

MR scans of brain and spine are normal. CSF examination reveals normal constituents with no oligoclonal bands.

What is the most likely diagnosis?

A 19-year-old male was referred for a neurosurgical opinion by his GP. He presented with a 3-day history of numbness and tingling in his feet that had ascended to his knees and he had difficulty passing urine. 

He has no medical history and is otherwise well. He is on no regular medications. He drinks alcohol in moderation but on direct questioning admitted to marijuana and cocaine use. 

On examination, power was 5/5 on the MRC scale in all limbs. Sensation to pinprick was intact, although vibration was not detected at the metatarsophalangeal joint. Bloods were unremarkable and an MRI of the lumbar spine was reported as normal.

He was discharged from the neurosurgical unit after passing urine. No diagnosis was recorded.

He has returned after 3 days with numbness and weakness in his hands. You are asked to provide an opinion.

On re-examination, gait is cautious. Cranial nerves are intact. Power is 5/5 on the MRC scale in the proximal arm muscles but 4/5 distally. Power in the proximal and distal leg muscle groups is 4/5. Biceps, triceps and supinator jerks are difficult to elicit and lower limb reflexes are absent with extensor plantar responses. Sensation is subjectively reduced to pinprick and vibration distally. 

You request ANA, ANCA, HbA1C, thyroid function, B12, folate levels with Lyme, HIV and syphilis serology, all of which are normal/ negative. You also request an MRI of the cervical and thoracic spinal cord, shown below.

What is the test most likely to provide the underlying diagnosis?

A 53-year-old gentleman presents to the Neurology Outpatient Department with a 2-year history of progressive lower limb weakness and sensory symptoms. He initially noticed difficulty running, stating his legs felt weak and unstable after exercise. He also describes intermittent back pain, radiating into his right buttock. His buttocks are numb, and he reports urinary urgency and hesitancy. 

At 18 years of age, he fractured two vertebrae playing rugby but did not require surgery. 

On examination there is evidence of bilateral lower limb weakness, MRC power grade 4/5 for hip flexion and knee flexion bilaterally. Upper limb strength is normal. There is widespread hyperreflexia in the upper and lower limbs, with bilateral ankle clonus. He has reduced distal vibration sense bilaterally in the lower limbs, with saddle anaesthesia to light touch and pain. 

MRI of his spine is shown below.

What is the next most appropriate investigation?

A 53-year-old healthcare assistant presented to the emergency department with a 4-hour history of back pain and tetraparesis. Her symptoms started with numbness in her upper limbs and progressed to complete tetraparesis over 90 minutes.

On examination she had 3/5 power in the lower limbs with flaccid tone and reduced grip strength 3/5 in both hands. Reflexes were depressed in upper and lower limbs. Sensory examination revealed impaired appreciation of pin prick and light touch with a sensory level at C6

An MRI scan of her C-Spine was performed.

 What is the diagnosis?

A 28-year-old warehouse operative presented to the fracture clinic with recurrent painless right shoulder dislocations, right shoulder swelling and limited right shoulder abduction. 

On questioning, he stated that he would only feel pain in his lower limbs when he fell as a child. He would never feel pain from injections in his arms. Three years prior to admission he presented to the burns unit with second degree burns to his right hand, having fallen asleep with his hand on a radiator.

He was otherwise fit and well and took no regular medications. He smoked 8 cigarettes a day, tended to binge drink and occasionally inhaled nitrous oxide balloons. He was adopted so did not know his family history.  

On examination his cranial nerves were normal. There was evidence of significant right shoulder effusion. He was unable to abduct his right shoulder beyond 15^o. Power was otherwise normal in the upper limbs. Deep tendon reflexes were absent in the upper limbs. He had reduced pain and temperature sensation bilaterally in the upper limbs, down to a sensory level of T9, below which sensation was preserved. There was symmetrical hyperreflexia in the lower limbs. 

What is the diagnosis?

A 68-year-old gentleman with motor neuron disease (MND) presents to the MND clinic with a three-month history of dysphagia. He weighs 68kg, reduced from 76kg at his last review 2 months ago. His FVC is 1.9L (45% predicted).

He and his family maintain he has a reasonable quality of life. He does not wish to stop feeding but has choked several times and found the experience very distressing.

He is assessed by the speech and language team, who report severe oropharyngeal stage dysphagia. They conclude his swallow is unsafe for most consistencies.

What is the most appropriate intervention for feeding?

You are completing an afternoon ward round and review a 43-year-old man admitted to the Neurology ward with uncontrolled seizures following a road traffic accident 4 weeks prior. He was originally under the joint care of the Trauma & Orthopaedic Team and the neurosurgeons with a subdural haemorrhage, multiple cerebral contusions, spinal fractures at C6/7 and C7/8 resulting in cord compression with paraparesis and a fractured pelvis. His seizures have been controlled for the last week with 1.5g levetiracetam BD, 200mg lacosamide BD and 10mg clobazam ON.

The patient is in bed and reports a headache. He is alert and oriented but appears anxious. You check his current observations and note a heart rate of 42 bpm, a systolic blood pressure of 145mmHg and oxygen saturations of 98% with a mild tachypnoea. His face is flushed and sweaty. His abdomen is generally soft with a barely palpable bladder. You note he is catheterised and that he has widespread gooseflesh.

You perform a brief neurological examination. Pupils are miotic but reactive and the discs are normal. He has a full range of eye movements, no facial asymmetry and bulbar function is normal. 

What is the next step in his management?

A 45-year-old patient presents with weakness in his right leg with difficulty walking and sensory disturbance. On examination, you note weakness of the right leg and loss of proprioception and vibration sense to the level of the right hip, as well as loss of pain and temperature sensation on the left. Reflexes are brisk in the right leg and normal on the left.

An MRI spine reveals a lesion at the level of T11/12.

What is the likely diagnosis? 

A child is referred to your clinic by his GP for investigation of spastic paraparesis.

The 14-year-old boy attends with his father, who describes waking one morning 4 years ago and finding his son barely able to move his legs. There has been no recovery since onset.

The boy denies symptoms in his arms. Bowel and bladder function are normal. He has no medical history and takes no medications. His mother and maternal aunt have autoimmune thyroid disease but there is no family history of neurological disease. He denies recreational drug use. His family moved to the UK 4 months ago from Ethiopia.

On examination, cranial nerve and arm examinations are normal. The patient walks with a spastic gait and the aid of 2 crutches. There is wasting of the gluteal and quadriceps muscles. Both legs are spastic with >5 beats of clonus at each ankle. Power is symmetrically reduced in a pyramidal pattern (flexors 2-3/5 on the MRC power scale, extensors 3-4/5). Reflexes are brisk with extensor plantar responses. There is no sensory level to pinprick and he detects vibration at the metatarsophalangeal joint bilaterally. Temperature sensation is intact.

An MRI of his spinal cord is normal.

What is the most likely explanation for his symptoms?

A 35-year-old male presents with sudden onset atraumatic back pain, bilateral leg weakness, urinary retention, and saddle anaesthesia. 

On examination there is 3/5 power in both lower limbs symmetrically with brisk knee reflexes but absent ankle jerks, extensor plantar responses and bilateral leg numbness.

What is the most likely diagnosis? 

An 80-year-old woman attends the outpatient clinic with a 3-month history of difficulty walking and frequent falls. She has a past medical history of pre-diabetes but takes no regular medication. She lives alone and has a balanced diet although mentions poorly fitting dentures despite using judicious use of denture paste.  

When examined she has absent proprioceptive and vibration sense in the lower limbs, as well as mild pyramidal weakness, brisk reflexes and gait ataxia.

What is the most likely underling cause for her presentation?