Pathology

Question 1

What disease can arise as a result of damage to the superior cervical ganglion or its efferent outflow (Level 3) or the preganglionic sympathetic fibres from T1 (Level 2) or central nerve fibres synapsing on preganglionic neurons (Level 1)?

Answer 1

Horner’s syndrome

Question 2

What are symptoms of Horner’s syndrome

Answer 2

Miosis on the affected side (constriction of pupil)
Anisocoria (unequal pupil size- one bigger than the next)
Ptosis (drooping of eyelid)
Anhydrosis (dehydration )
Vasodilatation
Enophthalmosis(eyes are sunken in)

Question 3

What are the causes of Horner’s syndrome?

Answer 3

1.Brainstem lesions (e.g. strokes)
2.Thoracic nerve root lesions (e.g. cancer, excessive traction on the arm)
3.Cervical paravertebral ganglion lesions
(e.g. accidental or surgical trauma, metastatic cancer)
4.Arterial injury to the neck (direct trauma, neck hyperextension, which can interrupt postganglionic axons traveling in the carotid periarterial plexus)

Question 4

In what patients would one have to undergo a surgical sympathectomy?

Answer 4

In treatment of severe hypertension, blood flow problems, hydrosis

Question 5

What is Familia Dysautonomia?

Answer 5

Inherited, autosomal recessive disorder found within Jewish ancestry (Ashkenazi Jews) , Eastern Europeans which affects autonomic functioning in infants/children.

Question 6

What gene does Riley-Day syndrome affect?

Answer 6

IKBKAP gene on chromosome 9

Question 7

What are clinical features of Familia Dysautonomia/ Riley-Day syndrome?

Answer 7

Absence of tears,
Postural hypotension,
Labile blood pressure,
Excessive salivation and sweating
Fluctuations in body temperature
Vomiting crises
Diarrhoea and constipation

Question 8

How to calculate blood pressure?

Answer 8

Cardiac output x Total Peripheral Resistance of the Body

Question 9

How does one calculate Cardiac output?

Answer 9

Stroke volume x Heart rate

Question 10

What is Postural Hypotension?

Answer 10

Sudden standing causes the B.P. to fall rapidly  dizziness + fainting

Question 11

What is Hirschsprung’s disease or Megacolon?

Answer 11

Congenital absence of ganglion cells of the myenteric plexus in the distal colon
Children with the disease may defaecate infrequently

Question 12

What is Shy -Drager or Multiple system Atrophy?

Answer 12

Sporadic, progressive adult-onset disorder characterized by autonomic dysfunction with parkinsonism and cerebellar ataxia

Question 13

What are some symptoms of Shy-Drager syndrome?

Answer 13

Poor regulation of blood pressure
Basal levels of NE are normal but does not increase on standing
Leads to Postural or Orthostatic hypotension
Fluctuations in body temperature
Poor regulation of body fluids
Motor disturbances

Question 14

What is Myasthenia Gravis?

Answer 14

Autoimmune disease due to circulating antibodies and destroy some of the nicotinic receptors on the skeletal muscle

Question 15

What is Lambert-Eaton syndrome?

Answer 15

Muscle weakness is due to antibodies destroying Ca 2+ channels in the nerve endings at the neuromuscular junction

Question 16

Which other disease is Myethenia Gravis associated with?

Answer 16

Thymomas

Question 17

Which other disease is Lambert-Eaton Syndrome associated with?

Answer 17

Small cell lung carcinoma

Question 18

What is Multiple Sclerosis?

Answer 18

MS is an autoimmune disorder of the CNS, mostly affecting women in their 20s and 30s, which eventually leads to demyelination and inflammation of the CNS.

Question 19

What is Guillian-Barre syndrome?

Answer 19

GBS, also known as acute inflammatory demyelinating polyneuropathy, is an autoimmune disorder affecting the PNS. There is an autoimmune attack on myelin of the peripheral sensory and motor nerves.

Question 20

What is Spacisity?

Answer 20

A condition in which certain muscles are continuously contracted.

Question 21

Spacisty can be caused by damage to what part of the Brain that controls voluntary movement?

Answer 21

Corticoreticulospinal (pyramidal) tract

Question 22

What is paralysis of the lower half of the body, including both legs known as?

Answer 22

Paraplegia

Question 23

What is paralysis of the arms and legs known as?

Answer 23

Quadriplegia

Question 24

What are the different causes of Paralysis?

Answer 24

~Nerve diseases e.g., amyotrophic lateral sclerosis (ALS; Lou Gehrig’s diseases)
~Autoimmune diseases e.g., Guillain-Barré syndrome
~Bell’s palsy (facial paralysis)
~Polio
~Stroke
~Damage to spinal cord

Question 25

What are examples of Genetic Muscular disorders?

Answer 25

Muscular Dystrophy
Storage Myopathy
Congenital Myopathy
Familial Periodic Paralysis
Mitochondrial Diseases

Question 26

What is Muscular Dystrophy?

Answer 26

A group of diseases characterised by progressive weakness and loss of muscle mass - mostly due to a defect in Dystrophin

Question 27

What is Dystrophin?

Answer 27

Dystrophin connects the cytoskeleton of a muscle fibre to the surrounding extracellular matrix through the cell membrane.

Question 28

What are the different types of Muscular dystrophies ?

Answer 28

Duchenne’s- Absence of dystrophin
Becker’s - Reduced amount of dystrophin

Question 29

What are symptoms of Duchenne’s muscular dystrophy?

Answer 29

Pseudohypertrophy of calf muscles
Sway back
Belly sticks out
Foot Drop
Gower’s signs

Question 30

McCardle’s syndrome is caused due to a defect in which enzyme?
( Type of metabolic myopathy)

Answer 30

Myophosphorylase deficiency

Question 31

What is McCardle’s syndrome?

Answer 31

It is an Autosomal recessive disorder which has a deficiency of my-phosphorylase enzyme. This causes the inability to break down glycogen hence a defect in SUGAR metabolism.

Question 32

A second wind phenomenon is seen in which disease?

Answer 32

McCardle’s syndrome

Question 33

In which disease is a warm up phenomenon seen?

Answer 33

Clinical Myotonia

Question 34

What is Clinical myotonia?

Answer 34

This is prolonged muscle relaxation after voluntary contraction that is due to an abnormal genes on chromosome producing abnormal Na + or Cl- channels.

Question 35

What are examples of Clinical Myotonia?

Answer 35

Becker’s disease & Thomsen’s syndrome

Question 36

What are the 4 forms of familial periodic paralysis?

Answer 36

1. Hypokalaemic- alpha sub unit gene defect affecting Ca2+ channels & Na+ channels
   2.Hyperkalaemic - Na+ channels
   3.Thyrotoxic
   4.Andersen-Tawil syndrome - K+ channels

Question 37

What are symptoms of Lambert-Eaton syndrome?

Answer 37

Dry mouth & eyes
Erectile dysfunction
Constipation
Reduced sweating
Ptsosis
Diplopia( double vision)
Dysphagia ( difficulty swallowing)
Dysarthria( difficulty speaking)