The risk of transmission of toxo __ with GA, and the severity of disease ___ with gestational age.

A baby presents with chorioretinitis, hydrocephalus, cerebral calcifications (ring enhancing lesions), sunset sign, increased HC, and seizures. What condition do you suspect they have?

A baby presents with sensory hearing loss, mental retardation, CP, periventricular calcifications, and retinal disease. The baby has microcephaly and dermal erythropoesis that resembles blueberry muffin. What condition do you suspect they have?

A baby presents with cataracts, blueberry muffin spots, patent ductus arteriosus, sensorineural hearing loss, and celery stalking of long bones. What condition do you suspect they have?

A baby presents with vesiculobullous eruptions, lymphadenopathy, and osteochondritis.. What condition do you suspect they have?

What is the gold standard for toxo?

__ percent of newborns with asymptomatic CMV develop neurosequlae such as hearing loss.

Viral culture of body fluids/urine for CMV in first 21 days confirms __ infection.

For congenital CMV, what drug may prevent hearing deterioration, but has high toxicity?

Initial maternal infection of HSV during __ of pregnancy may cause spontaneous abortion, IUGR, and preterm labor.

A baby has skin vesicles and microcephaly. What type of HSV do they have (most rare and severe)?

This type of HSV onsets at 5-11 days, is limited to skin, eye, and mouth, has no CNS involvement but can progress, has many small vesicles on head, and commonly has ophthalmologic involvement. What type of HSV do they have (most rare and severe)?

This type of HSV onsets at 2-6 weeks (peaking at 14 days), encephalitis, temporal lobe involvement, and skin lesions appear late. What type of HSV do they have (most rare and severe)?

This type of HSV onsets at 5-11 days, presents like bacterial sepsis, may have elevated liver enzymes, decreased platelets and abnormal coagulation. What type of HSV do they have (most rare and severe)?

If there is a known history of maternal HSV, then begin what drug at 36 weeks gestation?

A baby presents with symmetric joint swelling, saber shins, saddle nose, Hutchinson teeth, and mulberry molars. What condition do you suspect they have?

Match the development with age it presents at.

Match the following.

What is made by phenylalanine hydroxylase by using phenylalanine and THB?

What products are accumulated in classical PKU?

Match the location and what tyrosine becomes.

What is the process of synthesis of catecholamines?

Order the steps of tyrosine degradation.

THB is derived from 

What is a treatment for PKU to reduce the amount of phenylalanine crossing the BBB

PKU is most commonly caused by what type of mutation?

Wimberger or W. Corner sign is localized bilateral bony destruction of the medial portion of the proximal tibial metaphysis and is seen in

Which of the following is the triad of cataracts, cochlear defects, and cardiac abnormality?

The sweat chloride test is performed when an infant is 2 weeks old and weighs 2 kg. What is a positive test?

A patient presents with hypoxia d/t edema, hepatomegaly, digital clubbing, and gallop rhythm. What complication of CF are they experiencing?

Which of the following infections is responsible for respiratory complications, making it the MCC of death in CF patients?