Neonatal Short Case

Question 1

Common surgeries to look for evidence for in ex-premature babies

Answer 1

VP shunt - cerebral/abdominal scar
PDA repair
Laparotomy scar for NEC
Tracheostomy scar
Inguinal hernia repair
PEG tubes

Question 2

Inherited causes of strong floppy

Answer 2

Central cause - UMN lesion
Genetic e.g. PWS, T21
Structural e.g. lissencephaly
Neurodegenerative e.g. Tay-Sachs, MPS, Zellweger
Neurocutaneous e.g. Sturge Weber
Metabolic e.g. amino acidopathies

Question 3

Acquired causes of strong floppy

Answer 3

Central cause - UMN lesion
Static encephalopathy, prematurity
Infection e.g. TORCH, meningitis, encephalitis
Ischaemia
Trauma
Endocrine e.g. hypothyroidism, hypopituitarism

Question 4

Causes of weak floppy

Answer 4

Peripheral cause - LMN lesion
Anterior horn: SMA
Peripheral nerve: GBS, hereditary motor/sensory neuropathy
NMJ: myasthenia, infantile botulism
Muscle: congenital or infantile muscular dystrophy, congenital myopathies (e.g. central, core, nemaline rod)

Question 5

Complications of hypotonia

Answer 5

Ophthalmoplegia
Aspiration
Head lag
Scoliosis
Weak cry, cough, chest infections
Constipation
Hip dislocation

Question 6

Clinical signs of SMA

Answer 6

Anterior horn features
Hypotonia, fasciculations, areflexia, weakness

Question 7

Patterns of SMA

Answer 7

Proximal > distal
LL > UL
Mild facial weakness
Intercostal muscle involvement
Bulbar dysfunction

Question 8

Muscles spared in SMA

Answer 8

Eyes, diaphragm, cardiac muscle