Neurological Abnormalities

Question 1

Myasthenia Gravis

Answer 1

antibodies block the acetylcholine receptors
eye muscle weakness, hard to chew, swallow
ptosis (eyelids dropping)
diplopia
dysarthria

Question 2

Duchenne Muscular Dystrophy

Answer 2

more common in children
X-linked genetic disease
premature death
Gower’s sign –> pushes on legs to stand up

cardiomyopathies, respiratory failure, muscle wasting
affects lower limbs first

Question 3

Myotonic Dystrophy

Answer 3

myotonia (prolonged muscle contractions)
more common in adults
autosomal dominant

Question 4

SMA

Answer 4

3 types
Most common single genetic cause of a floppy infant
Prognosis is poor, survival beyond 18 months is rare
respiratory failure
tongue fascultations

Question 5

Guillain-Barré syndrome

Answer 5

acute neuromuscular paralysis

autoimmune response

Question 6

HMSN: Charcot-Marie-Tooth disease

Answer 6

Weakness & atrophy → entire lower legs
Genetic testing → no treatment
pes cavus (club foot) and foot drop
lower motor neuron, peripheral

Question 7

Fragile-X mental retardation

Answer 7

After Down syndrome most
common cause of mental
retardation. 1:4000 boys
reach milestones later, dysmorphic features

Question 8

Rett syndrome

Answer 8

Affects girls
Mutation on an X chromosome gene coding for MECP2
Loss of purposeful hand movements and communication skills, social withdrawal, gait apraxia, seizures, spasticity and kyphoscoliosis

causes regression

Question 9

Sturge-Weber syndrome (SWS)

Answer 9

facial birthmark called a port-wine birthmark, abnormal blood vessels in the brain, and eye abnormalities such as glaucoma.

Question 10

Neurofibromatosis (NF)

Answer 10

neurological and cutaneous manifestations
benign tumors of the nerves and growths in other parts of the body
liche nodules in eyes
cafe au lait birthmark

Ectoderm issue

Question 11

tuberous sclerosis

Answer 11

hypopigmentation
fibroma
non-cancerous benign tumors
multisystemic

Question 12

macrocephaly

Answer 12

+2sd
Too much brain: megalencephaly
Too much CSF: hydrocephalus

Question 13

Hydrocephalus

Answer 13

too much cerebrospinal fluid (CSF)
enlarged ventricular system
increased intracranial pressure

Obstruction (non-communicating): aqueductal
stenosis, tumour, bleeding
Non-resorptive (communicating): congenital,
during/after meningitis, benign external
hydrocephalus

Question 14

Spondylolosis

Answer 14

pars interarticularis defect
fifth lumbar vertebrae
hamstrings tightness
phalen-dickson sign (hips and knees flexed)
no NSAIDS because they prevent healing
caused by sports, gymnastics

Question 15

Spondylolisthesis

Answer 15

vertebrae slips out
listhesis (slip fowards)
spondylolosis + sliding of vertebrae