Neonatal Case Conference - Brandau

Question 1

infant M, difficulty feeding, resp distress

• 35yo mother
• oligohydramnios and IUGR
• delivery - asymmetric
• APGAR 9
• hypotonia generalized
• arthrogryposis of wrist and elbows

Answer 1

initial tx - CPAP
sepsis work up
viral studies -

Question 2

IUGR

Answer 2

less than 5th percentile of growth for gestational age

placental abnormal
maternal HTN
DM
smoking
alcohol
chromosomal anomaly
congenital malformations

Question 3

arthrogryposis

Answer 3

fixed contraction of joint

Question 4

TORCH organisms

Answer 4

toxoplasmosis
other (hep B)
rubella
cytomegalovirus
herpes simplex virus

teratogenic, cross placenta, adverse on developing fetus

Question 5

hydrops

Answer 5

most TORCH infections - may be transient

Question 6

SEM disease

Answer 6

herpes - skin, eyes, mucosa

Question 7

3 forms of herpes

Answer 7

SEM disease
CNS disease
disseminated disease

Question 8

CNS herpes

Answer 8

seizure, lethargic, irritable, tremor, poor feeding

Question 9

disseminated herpes disease

Answer 9

multi organ involvement

-skin, eye, mouth, lung, liver, adrenals

Question 10

congenital rubella syndrome

Answer 10

microcephaly
PDA
cataracts

Question 11

blueberry muffin rash

Answer 11

CMV or rubella

Question 12

MC congenital infection

Answer 12

CMV

Question 13

CMV clinical

Answer 13

ventriculomegaly, FGR, intracranial calcifications, oligohydramnios

Question 14

laminin alpha 2

Answer 14

congenital muscular dystrophy

absent from muscle fiber surfaces

normal - located in basal lamina

Question 15

congenital muscular dystrophy

Answer 15

genetic - lamin alpha 2

CK levels elevated

muscle bx - fibrosis, degeneration/regeneration

prolif fatty and CT

Question 16

classical CMD

Answer 16

absent CNS findings by MRI

laminin a2 muttaions - merosin positive or negative

auto recessive