Neurocutaneous

Question 1

8 year-old boy with mental retardation and seizures. He had operation.

Answer 1

Sturge-Weber syndrome

Background

• Angiomas of meninges, face, brain
• Not hereditary

Clinical features

• Seizures
• Port-wine stain birthmark at CN V1 distribution
  
  • Neuronal loss and calcification in cerebral cortex on same side as birthmark
• Mental retardation
• Glaucoma

Imaging

• Often involves posterior brain
• “Tram-track” pattern of calcification

Treatment

• AEDs
• Hemispherectomy if AEDs don’t work

Question 2

A 17 year-old man presented with gradual hearing loss.

Answer 2

Neurofibromatosis type II (NF2), bilateral acoustic neuromas (vestibular schwannomas)

Background

• Characterized by growth of multiple benign brain tumors
• Defect in chromosome 22
  
  • Sporadic or autosomal dominant

Clinical features

• Bilateral acoustic neuromas (90%)
  
  • Slowly progressive bilateral hearing loss in children
• Schwannomas of other cranial nerves (CN V)
• Multiple meningiomas
• Juvenile subcapsular cataract
• Skin lesions uncommon
  
  • Unlike NF1

Question 3

An 8 year-old child with mental retardation developed intractable seizures.

Answer 3

Tuberous sclerosis

Imaging

• 4 main features:
  
  • Cortical tubers - dysplasia of white matter
  • Subependymal nodules
  • Ventriculomegaly
  • Subependymal giant cell astrocytomas (SEGAs)
    
    • Benign tumors arising from subependyma
    • Project into lateral ventricles
    • Ependyma = lining of ventricles and produces CSF

Treatment

• Control of seizures

Question 4

A 21 year-old man with many years of seizures, developed a severe headache.

Answer 4

Tuberous sclerosis, with SEGA

• Variable degree of calcification
• Clinically silent but may lead to obstruction of ventricular system
  
  • If so, surgical resection

Question 5

A 50 year- old female presnted with the slow onset of mild cognitive impairment.

Answer 5

Multiple meningiomas, seen in NF2

• Multiple meningiomas is characteristic of NF2

Question 6

A 7-year old child with neurocutaneous disorder.

Answer 6

Thinning of long bones in neurofibromatosis type 1 (NF1)

Background

• Mutation on ch17 - protein neurofibromin
• Symptoms by age 5

Clinical features

• Café-au-lait spots
• Axillary freckling
• Lisch nodules = pigmented hamartomas of the iris
• Multiple subcutaneous neurofibromas
  
  • Develop on periopheral nerves and nerve roots and can lead to painful neuropathies and radiculopathies
• Optic pathway gliomas
• Thinning of long bones
• Family history of NF1

Other features

• Mental retardation in 50% of patients
• Seizures in 10% of patients
• Gliomas in brain and brainstem