Neurocutaneous disorders (1Q)

Question 1

Tuberous sclerosis: patient

Answer 1

Sporadic or familial with autosomal dominant pattern. Neuro sx begin in early childhood. Cutaneous anomaly begins at 5-10 y.o.

Question 2

Tuberous sclerosis: Hx and Px

Answer 2

Neuro: Seizures, progressive psychmotor retardation.

Cutaneous: adenoma sebaceum- reddened nodules on face (cheeks, nasolabial folds, sides of nose, chin) and sometimes forehead and neck.

Other cutaneous: subungual fibromas, shagreen patches (leathery plaques of subepidermal fibrosis- usually on trunk), leaf-shaped hypopigmented spots.

Associated: retinal lesions/tumors, benign rhabdomyomas of heart, lung cysts, benign tumors/cysts of viscera.

Question 3

Tuberous sclerosis: Tx and Management

Answer 3

progressive mental deterioration. No treatment. Can give anticonvulsants to control seizures.

Question 4

Neurofibromatosis: Pt.

Answer 4

Can occur sporadically or on a familial basis with autosomal dominant inheritance.

Question 5

Neurofibromatosis: type 1

Answer 5

Recklinghausen disease. characterized by multiple hyperpigmented macules and neurofibromas.

Cause is mutation in NF1 gene on chromosome 17.

Question 6

Neurofibromatosis: type 2

Answer 6

Characterized by 8th nerve tumors and other intracranial and intraspinal tumors.

Cause is mutation in NF2 gene on chromosome 22.

Question 7

Neurofibromatosis: Clinical

Answer 7

Clinical presentation depends on location of tumor. Often includes CN 8 (vestibulocochlear). Examination of the superficial cutaneous nerves usually reveals palpable mobile nodules which may have associated marked overgrowth of subcutaneous tissue (plexiform neuromas). Cutaneous lesions include axillary freckling and pigmentation (cafe au lait spots).

Question 8

Neurofibromatosis: progression

Answer 8

may progress and lead to malignant degeneration to peripheral sarcomas, meningiomas, gliomas (esp optic nerve), bone cysts, pheochromocytomas, scoliosis, and obstructive hydrocephalus.

Question 9

Sturge-Weber syndrome: patient

Answer 9

Congenital disease with sporadic occurrence. No sex predilection.

Question 10

Sturge-Weber syndrome: clinical

Answer 10

Cutaneous: Unilateral (usually) cutaneous capillary angioma involving upper face (can also cover whole head and neck with overgrowth of connective tissue), leptomeningeal angiomatosis (cerebral malformations and tumors), and often choroidal angioma (reddish-orange spot near fovea on fundoscopic- can cause retinal detachment)

Neurological: Focal on generalized seizures (any age), contralateral homonymous hemianopsia (loss of visual field), hemiparesis, hemisensory disturbance.

Radiologic: skull radiographs after 2 yo will show gyriform ‘tramline’ intracranial calcification.

Question 11

Sturge-Weber: treatment

Answer 11

control seizures. Control opthalmologic Sx. May need surgery.