29

Front 1

A-29. What are the four types of Phacomatoses (aka Neurocutaneous Syndromes)?

Back 1

1.) NF1 NF=Neurofibromatosis
2.) NF2
3.) Tuberous sclerosis
4.) von-Hippel Lindau

Front 2

A-29. What are the Sx of NF1 (aka von Reckling Disease)?

Back 2

Neurofibromas

Opric Nere Gliomas

Pigmented nodules in iris (Lisch nodules)

Cafe au lait spots

Axillary freckling

-due to loss of NF1 gene on c17

Front 3

A-29. What are s the Sx of NF2 (aka acoustic neurofibromatosis)?

Back 3

Bilateral Schwannomas
Multiple meningiomas
Hear deficit

-Due to loss of NF2 gene

Front 4

A-29. What are the Sx of Tuberous sclerosis?

Back 4

-Hamartomas (brain surface looks like patato w/ eyes)
-Cysts of liver, kidney, and pancreas
-Mental retardation
-Facial angiofibromas
-Cutan. lesions (Shagreen's/Ash leaf patches)

Front 5

A-29. What are the Sx of Von-Hippel Lindau?

Back 5

High risk for renal cell carcinoma

Capillary hemagiomas in cerebellum and retina

Cysts on liver, kidney, and pancreas

Front 6

A-29. What is the pathophys and Sx of Fragile X Syndrome?

Back 6

Structural defect in chromosome X

Sx: MR, large ears and jaw, males bilat macroorchidism

Tripple reat disorder of CGG demonstrates anticipation

Front 7

A-29. What is the pathophys and Sx of Duchenne Muscular Dystrophy?

Back 7

Lack of dystropin (needed for muscle tone/funnction)

Sx: very high creatine kinase, proximal muscle weakness, eventual muscle atrophy

Front 8

A-29. What does a deletion of 5p cause?

Back 8

Cri du chat syndrome

Sx: high pitch cat-like cry, microcephaly, MR

Front 9

A-29. What are the four types of nephropathy associted with SLE?

Back 9

1.) Mesangial Disease
2.) Focal proliferative nephritis
3.) Diffuse proliferative nephritis
4.) Membranous glomerulonephropathy

Front 10

A-29.What is the pathophys and clinical "triad" of Chediak-Higashi syndrome?

Back 10

Impaired microtubules limiting WBC movement and use of granules

Bacterial Infectiosn, Viral infections, Partial Albinism