Neuromuscular Disease

Question 1

In infancy, the chest wall is compliant or incompliant

Effect on chest wall compliance w progressive intercostal muscle weakness

Effect on lung volumes

Effect on muscle elasticity

Effect on spinal column

Answer 1

Compliant 
More compliant 
Lung volumes decrease
Muscles shorten and lose elasticity 
Expiratory > inspiratory pressures fall
Development of kyphoscoliosis

Question 2

Congenital central hypoventilation syndrome
Gene involved
Associated diseases

Answer 2

PHOX2B

Hirsprungs
Neuroblastoma
Ganglioneuromas
Ganglioneuroblastoma

Prolonged asystole requiring PPM

GI dysmotility
Hypothermia
Altered diaphoresis

Question 3

Congenital central hypoventilation syndrome
Clinical manifestations
Blood gas during sleep
Wakefulness

Answer 3

Antenatal normal
AGA
Shallow respirations & apnea
No respiratory distress

Hypercapneic ++ asleep
May improve to normal awake (most not normal awake)

Reduced sensitivity to carbon dioxide & hypoxaemia

Question 4

Congenital central hypoventilation syndrome

Ddx

Characteristic / defining Sx

Answer 4

X linked myotubular myopathy 
Multiminicore disease
Congenital myasthenic syndrome
Anatomical airway anomalies 
Diaphragm dysfunction
CHD
Mobius syndrome
Metabolic 

Profound hypercapnia without respiratory distress

Question 5

ROHHAD

Malignant association

Answer 5

Rapid onset (2-7y) obesity with hypothalamic dysfunction ( hyperprolactinemia, central hypothyroidism, DI, delayed or precocious puberty )
Hypoventilation and autonomic dysfunction

Associated with neural crest tumours