Congenital diseases

Question 1

congenital CMV findings

Answer 1

• SGA
• HSM
  petechiae/purpura
• jaundice
  -microcephaly
• seizures
• thrombocytopenia
• hemolytic anemia
• inc. transaminases
• inc. serum bili
• CT: periventricular calcifications
• sensorineural hearing loss (MC!)
• chorioretinitis

Question 2

congenital rubella syndrome

Answer 2

• mom has rash in preg.
• sensorienural deafness
• cataracts (white reflex)
• cardiac: PDA/PAS
• neuro: meningoencephalitis
• behavior/MR
• IUGR
• microcephaly
• HSM
• thrombocytopenia
• characteristic purpura (blueberry muffin spots)

Question 3

what is unique about congenital rubella syndrome?

Answer 3

• cataracts

- PDA

Question 4

congenital syphilis

Answer 4

• normally asx at birth
• early: palms/soles lesions, HSM, jaundice, anemia, snuffle (watery discharge), bony abn
• late: frontal bossing, short maxilla, high palatal arch, Hutchinson triad (blunted upper incisors, interstitial keratitis, 8th n. deafness), saddle nose, perioral fissures

Question 5

GBS

Answer 5

MCC neonatal sepsis

- gram stain: gram pos. cocci

Question 6

neonatal herpes simplex

Answer 6

• skin, eye, mouth vesicles
• dissem to liver/organs
• prominent neuro involvement

Question 7

neonatal listeriosis

Answer 7

• mom has flu-like illness
• amnionitis w/ characteristic brown, murky AF
• neonatal sepsis w/ granulomatosis infantiseptica (pathognomonic)
• pleomorphic gram pos. cocci
• confirm w/ blood and csf culture

Question 8

congenital HIV

Answer 8

FTT, dev delay, fever, oral thrush, rec ear infxn, generalized LAD, lymphoid interstitial PNA, diarrhea, HSM, rec bacterial sepsis/candidiasis

Question 9

congenital VZV

Answer 9

low birth wt, congen eye defects (microophthalmia, cataracts, chorioretinitis) encephalomyelitis, hypoplastic limbs w/ flexion contractures, cutaneous scars, micrognathia, penumonitis