Neurocutaneous Flashcards

1
Q

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

A

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
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2
Q

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

A

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
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3
Q

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

A

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
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4
Q

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

A

Tuberous sclerosis, with SEGA

  • Variable degree of calcification
  • Clinically silent but may lead to obstruction of ventricular system
    • If so, surgical resection
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5
Q

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

A

Multiple meningiomas, seen in NF2

  • Multiple meningiomas is characteristic of NF2
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6
Q

A 7-year old child with neurocutaneous disorder.

A

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
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