Pathology Flashcards
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)?
Horner’s syndrome
What are symptoms of Horner’s syndrome
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)
What are the causes of Horner’s syndrome?
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)
In what patients would one have to undergo a surgical sympathectomy?
In treatment of severe hypertension, blood flow problems, hydrosis
What is Familia Dysautonomia?
Inherited, autosomal recessive disorder found within Jewish ancestry (Ashkenazi Jews) , Eastern Europeans which affects autonomic functioning in infants/children.
What gene does Riley-Day syndrome affect?
IKBKAP gene on chromosome 9
What are clinical features of Familia Dysautonomia/ Riley-Day syndrome?
Absence of tears,
Postural hypotension,
Labile blood pressure,
Excessive salivation and sweating
Fluctuations in body temperature
Vomiting crises
Diarrhoea and constipation
How to calculate blood pressure?
Cardiac output x Total Peripheral Resistance of the Body
How does one calculate Cardiac output?
Stroke volume x Heart rate
What is Postural Hypotension?
Sudden standing causes the B.P. to fall rapidly dizziness + fainting
What is Hirschsprung’s disease or Megacolon?
Congenital absence of ganglion cells of the myenteric plexus in the distal colon
Children with the disease may defaecate infrequently
What is Shy -Drager or Multiple system Atrophy?
Sporadic, progressive adult-onset disorder characterized by autonomic dysfunction with parkinsonism and cerebellar ataxia
What are some symptoms of Shy-Drager syndrome?
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
What is Myasthenia Gravis?
Autoimmune disease due to circulating antibodies and destroy some of the nicotinic receptors on the skeletal muscle
What is Lambert-Eaton syndrome?
Muscle weakness is due to antibodies destroying Ca 2+ channels in the nerve endings at the neuromuscular junction
Which other disease is Myethenia Gravis associated with?
Thymomas
Which other disease is Lambert-Eaton Syndrome associated with?
Small cell lung carcinoma
What is Multiple Sclerosis?
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.
What is Guillian-Barre syndrome?
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.
What is Spacisity?
A condition in which certain muscles are continuously contracted.
Spacisty can be caused by damage to what part of the Brain that controls voluntary movement?
Corticoreticulospinal (pyramidal) tract
What is paralysis of the lower half of the body, including both legs known as?
Paraplegia
What is paralysis of the arms and legs known as?
Quadriplegia
What are the different causes of Paralysis?
~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
What are examples of Genetic Muscular disorders?
Muscular Dystrophy
Storage Myopathy
Congenital Myopathy
Familial Periodic Paralysis
Mitochondrial Diseases
What is Muscular Dystrophy?
A group of diseases characterised by progressive weakness and loss of muscle mass - mostly due to a defect in Dystrophin
What is Dystrophin?
Dystrophin connects the cytoskeleton of a muscle fibre to the surrounding extracellular matrix through the cell membrane.
What are the different types of Muscular dystrophies ?
Duchenne’s- Absence of dystrophin
Becker’s - Reduced amount of dystrophin
What are symptoms of Duchenne’s muscular dystrophy?
Pseudohypertrophy of calf muscles
Sway back
Belly sticks out
Foot Drop
Gower’s signs
McCardle’s syndrome is caused due to a defect in which enzyme?
( Type of metabolic myopathy)
Myophosphorylase deficiency
What is McCardle’s syndrome?
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.
A second wind phenomenon is seen in which disease?
McCardle’s syndrome
In which disease is a warm up phenomenon seen?
Clinical Myotonia
What is Clinical myotonia?
This is prolonged muscle relaxation after voluntary contraction that is due to an abnormal genes on chromosome producing abnormal Na + or Cl- channels.
What are examples of Clinical Myotonia?
Becker’s disease & Thomsen’s syndrome
What are the 4 forms of familial periodic paralysis?
- Hypokalaemic- alpha sub unit gene defect affecting Ca2+ channels & Na+ channels
2.Hyperkalaemic - Na+ channels
3.Thyrotoxic
4.Andersen-Tawil syndrome - K+ channels
What are symptoms of Lambert-Eaton syndrome?
Dry mouth & eyes
Erectile dysfunction
Constipation
Reduced sweating
Ptsosis
Diplopia( double vision)
Dysphagia ( difficulty swallowing)
Dysarthria( difficulty speaking)
