Alfred Consortium Exam

Question 1

What are the 5 lacunar syndromes?

Answer 1

1. Pure motor hemiparesis
   
   1. Posterior limb of the internal capsule, which carries the descending corticospinal and corticobulbar tracts, or the basis pontis (ventral portion of the pons)
   2. Contralateral hemiparesis that typically affects the face, arm, or leg in approximately equal measure. A ‘pyramidal’ pattern of weakness may also be present.
2. Ataxic hemiparesis
   
   1. Posterior limb of the internal capsule, basis pontis, or corona radiata
   2. Combination of cerebellar and pyramidal hemiparesis on the contralateral side of the body. It usually affects the foot and leg more than it does the hand and arm; hence, it is known also as ‘homolateral ataxia and crural paresis’
3. Dysarthria-clumsy hand syndrome
   
   1. Basis pontis or the genu of the internal capsule (carrying corticobulbar tract)
4. Pure sensory syndrome
   
   1. Ventral posterolateral (VPL) nucleus of the thalamus (projects to prmiary somatosensory cortex)
   2. Contralateral numbness of the face, arm and leg
5. Mixed sensory motor stroke
   
   1. Thalamus and adjacent posterior limb of the internal capsule
   2. Contralateral hemiparesis and sensory impairment of the face, arm and leg

Question 2

What is hemiballism and where is the anatomical pathology?

Answer 2

Large involuntary movements - seen in Huntington’s

Abnormality of the sub-thalamic nucleus

Question 3

What is pendular reflexes? And where is the anatomical pathology that causes this?

Answer 3

Back and forward oscillation of the leg seen in cerebellar disease

Question 4

What is PALB2 and what disease process is it involved with?

Answer 4

Breast/ovarian cancer - it’s encodes a BRCA2 interacting gene.

Other high penetrance genes for breast/ovarian cancer are:

• TP53 (Li-fraumeni syndrome)
• STK11 (Peutz-Jegher syndrome)
• PTEN (hamartoma tumour syndrome)
• CDH1 (hereditary diffuse gastric cancer syndrome)
• MSH genes (Lynch syndrome)

Question 5

What hereditary syndrome is assocaited with a p53 gene defect?

Answer 5

Li Fraumeni

breast cancer; bone cancer; and cancers of soft tissues (such as muscle) called soft tissue sarcomas, particularly in children and young adults

Question 6

What murmur occurs in ASDs and what is the mechanism of the murmur?

Answer 6

1. Increased flow through the pulmonic valve, making it remarkably similar to that of PS
2. Mid systolic murmur

Question 7

f