37 Developmental Diseases of the Nervous system

Question 1

Common hereditary disease in which skin, nervous system, bones and endocrine glands and sometimes other organs are the sites of a variety of congenital abnormalities, often taking the form of benign tumors

Answer 1

Neurofibromatosis of von Recklinghausen

Question 2

Mutation in NF

Answer 2

located near centromere on chrom 17 neurofibromin p.1046

Question 3

Main feature in bilateral acoustic nerve neuromas (NF)

Answer 3

Mutation in Merlin Gene (Schwannomin) p.1046

Question 4

Pathogenesis in NF

Answer 4

allows low grade ectodermal cell proliferation without tumor transformation p.1046

Question 5

Cellular elements derived from NEURAL CREST cells

Answer 5

Schwann cells, melanocytes, endoneurial fibroblasts, natural components of skin and nerves (p.1046)

Question 6

Classic or Peripheral NF

Answer 6

NF type 1

Question 7

Acoustic or Central NF

Answer 7

NF 2

Question 8

Axillary and integumentary freckling seen in NF 1

Answer 8

Crowe sign p.1064

Question 9

Generally 6 or more of > 5mm diameter prepubertal and >15mm postpubertal

Answer 9

Café-au-lait spots

Question 10

Hamartomas of the iris

Answer 10

Lisch Nodules

Question 11

Pathognomonic of NF

Answer 11

Freckle-like or diffuse pigmentation of the axillae and other intertriginous areas (groin, under the breast) and small round, whitish spots couple ld with cafe-au-lait (p.1047)

Question 12

Principal feature of NF

Answer 12

Multiple cutanoeus and subcutaneous tumors in late childhood and early adolescence

Question 13

Cutaneous tumors situated in the dermis and form discrete soft or firm papules varying in size from few mm to cm or more

Answer 13

Molluscum fibrosum

Question 14

The phenomenon useful in distinguishing the lesion of NF from other skin tumors (lipomas), when pressed soft tumors tend to invaginate

Answer 14

Buttonholing

Question 15

Overgrowth of subcutaneous tissue reaching enormous size in NF

Answer 15

Plexiform neuromas (p.1047)

Question 16

Rare disease of multiple symmetrical lipomatosis with axonal polyneuropathy

Answer 16

Launois-Bensaude disease p.1047

Question 17

Headache, hydrocephalus, tors involving the optic pathways, meningiomas, gliomas, malignant peripheral tumors

Answer 17

NF1

Question 18

Pain in NF1

Answer 18

related to malignant peripheral nerve sheath tumor p.1048

Question 19

Percentage of learning difficulty, developmental disorder and hyperactivity

Answer 19

40% of patients with NF 1 p.1048

Question 20

Incidence of seizures _____times more common in NF

Answer 20

20

Question 21

What is the protein content in CSF of neonates with congenital toxoplasmosis?

Answer 21

range of 100 to 400 mg/dL p.1066

Question 22

Infections with cerebral calcifications

Answer 22

Toxoplasmosis, CMV, rubella p.1063

Question 23

infection with early signs of lymphadenopathy, splenomegaly, hepatomegaly, failure to thrive, oral candidiasis and parotitis?

Answer 23

Congenital HIV infectiob p.1065

Question 24

The most reliable means if diagnosis of Congenital Toxoplasmosis

Answer 24

IgM indirect fluorescent antibody test p.1066 (performed on umbilical cord blood)

Question 25

A negative VDRL reaction excludes congenital syphillis

Answer 25

FALSE p.1066

Question 26

The classic Hutchinson triad is seen in this infection

Answer 26

Congenital neurosyphillis (Dental deformities, interstitial keratitis and bilateral deafness) p.1066