Neurocutaneous Disorders

Question 1

Neurological abnormalities: seizures, psychomotor retardation, slowly progressive mental deterioration, subependymal tumors

Skin: adenoma sebaceous, Shagreen patches, Ash leaf patches

Retinal lesions

Cardiac rhabdomyomas

Answer 1

Tuberous Sclerosis (de novo or AD mutation in TSC1 or TSC2 gene)

Question 2

Neurofibromas

CN VIII tumors (Vestibular schwannomas)

Café au lait spots

Meningiomas and gliomas

Answer 2

Neurofibromatosis

CN VIII tumors (Vestibular schwannomas) - NF2 specifically

Café au lait spots - NF1 specifically

Question 3

Port-wine stain on face

Seizures

CNS: homonymous hemianopsia, mental subnormality

Answer 3

Sturge-Weber Syndrome

Question 4

What are some features of Tuberous Sclerosis?

Answer 4

Neurological abnormalities: seizures, psychomotor retardation, slowly progressive mental deterioration, subependymal tumors

Skin: adenoma sebaceous, Shagreen patches, Ash leaf patches

Retinal lesions

Cardiac rhabdomyomas

Question 5

What are some features of Sturge Weber syndrome?

Answer 5

• Mutation in GNAQ gene
• Port-wine stain (trigeminal nerve [CN V1/V2] distribution)
• Leptomeningeal capillary-venous malformation
• Seizures
• ± hemiparesis
• Intellectual disability
• Visual field defects, Glaucoma