Neurocutaneous Flashcards
8 year-old boy with mental retardation and seizures. He had operation.
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
A 17 year-old man presented with gradual hearing loss.
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
An 8 year-old child with mental retardation developed intractable seizures.
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
A 21 year-old man with many years of seizures, developed a severe headache.
Tuberous sclerosis, with SEGA
- Variable degree of calcification
- Clinically silent but may lead to obstruction of ventricular system
- If so, surgical resection
A 50 year- old female presnted with the slow onset of mild cognitive impairment.
Multiple meningiomas, seen in NF2
- Multiple meningiomas is characteristic of NF2
A 7-year old child with neurocutaneous disorder.
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