Paediatric Neurology

Question 1

Which babies are most at risk of germinal matrix haemorrhage? How are they diagnosed and what complications can result?

Answer 1

• Prems (germinal matirx only present to be injured from 32-36 weeks)
• US
• Cerebral palsy, obstructive hydrocephalus (care is supportive)

Question 2

When are neural tube defects most likely to occur?

Answer 2

• First 28 days following conception

Question 3

What are the two main types of hydrocephalus? What are the clinical features?

Answer 3

• Classification
  
  • Communicating - obstruction at arachnoid villi (CSF resorption)
    
    • SAH, meningitis
  • Non-communicating - physical ventricular obstruction
    
    • Aqueduct stenosis, 4th ventricle atresia, neoplasm, IVH
• Features
  
  • Enlarged head, separated sutures, bulging fontanelles, setting-sun (down-and-out) eye
  • Older children (fused sutures) - raised ICP

Question 4

What is the genetic cause of neurofibromatosis-1?

Answer 4

• Loss of NF1 tumour-suppressor gene on chromosome 17
• Autosomal dominant

Question 5

What are the clinical features of neurofibromatosis-1?

Answer 5

• Peripheral lesions
• Clinical diagnosis 2+ of:
  
  • Multiple cutaneous neurofibromas
  • 6+ cafe-au-lait spots
  • Axillary freckling
  • 1+ Lisch (eye) nodule
  • Optic glioma
  • Skeletal dysplasia
  • 1 affected FDR

Question 6

What is the genetic aetiology of neurofibromatosis-2?

Answer 6

• Autosomal dominant mutation on chromosome 22

Question 7

What are the clinical features of neurofibromatosis-2?

Answer 7

• Central lesions
• 1 major or 2 minor criteria
  
  • Major
    
    • Unilateral acoustic neuroma and 1 FDR
    • Bilateral acoustic neuroma
  • Minor
    
    • Meningioma
    • Schwannoma
    • Ependymoma
    • Glioma
    • Cataract

Question 8

What is the genetic aetiology of tuberous sclerosis? What proportion are the result of an inherited defect?

Answer 8

• Autosomal dominant TSC1 or 2 mutation
• 2/3 due to de novo mutations, 1/3 inherited

Question 9

What are the clinical features of tuberous sclerosis?

Answer 9

• Development of benign hamartomas in brain/skin/heart/kidneys/eyes/lungs
• Cutaneous lesions
  
  • Ash-leaf spots (depigmented)
  • Shagreen patches
  • Periungual fibromas
  • Fibrous forehead plaques
  • Facial angiofibromas

Question 10

What is the main clinical feature of Sturge-Weber syndrome?

Answer 10

• Port-wine stain over V1 of the trigeminal nerve
• SW syndrome = leptomenigeal angiomatosis - so presentation is variable depending on location(s) of lesion

Question 11

List some of the features associated with Von-Hippel-Lindau syndrome

Answer 11

• Variety of benign/malignant lesions
  
  • Cortical/cerebellar/spinal cord haemangiomas
  • Retinal angiomas
  • Clear cell renal carcinomas
  • Phaeochromocytomas
  • Middle ear tumours
  • Pancreatic neuroendocrine tumours
  • Epididymal/broad ligament tumours

Question 12

What is thought to be the trigger for acute disseminated encephalomyelitis? When does it present and what is the main management?

Answer 12

• Post-viral (3-6 weeks after)
• MRI FLAIR
• Pulsed methylprednisolone

Question 13

In what peripheral motor disorder might a child be observed to have a frog-like posture?

Answer 13

Spinal muscular atrophy (SMA) - 1

Question 14

What is the most common cause of Guillain-Barre syndrome? What is the management?

Answer 14

• Campylobacter
• Respiratory monitoring and support, PT/OT, analgesia, IVIg