Quiz 1: Newborn Evaluation

Front 1

A mother brings her 20-day-old male infant to your clinic for the child’s first visit. You learn that the infant was born at home to a 28-year-old G1P1, and the infant has not yet received newborn screening. During your history, you learn that the infant has been vomiting 2 to 3 times per day, and the mother reports that her son seems fussier than her friends’ infants. On exam, you note an eczematous rash and a musty odor to the infant’s skin and urine. Which enzyme deficiency would you expect the infant to display?

Back 1

Phenylalanine hydroxylase

Front 2

A 19-year-old female in her 38th week of pregnancy goes into active labor. Shortly after birth her baby is noted to have a high-pitched cry, tremulousness, hypertonicity, and feeding difficulties. The baby is otherwise developmentally normal and the remainder of the physical exam also is normal. What is the drug the baby's mother likely used during her pregnancy?

Back 2

Heroin

Front 3

A 19-year-old G1P0 presents in labor to the ED at 38 gestational weeks. On interview it is discovered that the patient had irregular prenatal care, drank a couple of beers every weekend, and smoked 4 cigarettes a day. She delivers a baby boy who is small for gestational age. On exam, it is noted the baby has microcephaly, a smooth philtrum, and a thin upper lip. What do you suspect caused these features in the baby?

Back 3

Alcohol exposure

Front 4

A mother brings her 20-day-old male infant to your clinic for the child’s first visit. You learn that the infant was born at home to a 28-year-old G1P1, and the infant has not yet received newborn screening. During your history, you learn that the infant has been vomiting 2 to 3 times per day, and the mother reports that her son seems fussier than her friends’ infants. On exam, you note an eczematous rash and a musty odor to the infant’s skin and urine. Which enzyme deficiency would you expect the infant to display?

Back 4

Phenylalanine hydroxylase

Front 5

A 33-year-old G1P0 female with a history of medically controlled seizures gives birth vaginally to a boy with IUGR at 38 weeks' gestation. The newborn is noted to have dysmorphic cranial features and his head circumference is 28.5 cm (< 5th percentile). What is another associated abnormality you might expect to see in this newborn

Back 5

Cardiac defects

Front 6

PKU

Back 6

• autosomal rececessive
  
• d/o of aa metabolism
  
• phenylanine hydroxylase
  
• detected by newborn screening
  
• may have vomiting, hypotonia, musty odour, developmental delay, pigementation of hair and eyes
  

Front 7

G6PD deficiency

Back 7

• Von Gierke's disease: glycogen storage disease
• AR inheritance
• hypoglycemia, hepatomegaly, metabolic acidosis

Front 8

Heroin Baby

Back 8

• CNS findings (irritability, hyperactivity, hypertonicity, incessant high pitched cry, tremors, seizures)
• GI symptoms (vomiting, diarrhea, weight loss, poor feeds, incessant hunger, excessive salvation)
• Respiratory findings (nasal stuffiness, yawn, sneeze)

Front 9

Alcohol baby

Back 9

• FAS (abnormal facial features, growth deficiency, CNS dysfunction)
• neurobehavioural deficits

Front 10

Cocaine baby

Back 10

• deficits later in childhood
• cognitive performance
• information processing
• attention to tasks

Front 11

Tobacco baby

Back 11

• lower weight newborns
• subtle neurodevelopmental deficits

Front 12

Tobacco baby

Back 12

• small for gestational age
• typically do not have any characteristic facial features

Front 13

Alcohol baby

Back 13

• FAS
• smooth filtrum, thinning of upper lip, small palpebral fissures

Front 14

Congenital rubella baby

Back 14

• Sensorineural deafness
  
• Eye abnormalities
  
• PDA
  

Front 15

HIV baby

Back 15

Need lab test to rule out

(not lead to recognizable symptoms at birth)

Front 16

Congenital CMV baby

Back 16

• microcephaly
  
• jaundice
  
• hepatosplenomegaly
  
• low birth weight
  
• petechiae at birth
  

Front 17

PKU baby

Back 17

• vomiting
• hypotonia
• musty odour
• developmental delay
• decreased pigmentation of hair and eyes
• Tx: phenylalanine restricted diet

Front 18

G6PD baby

Back 18

• hypoglycemia
• hepatomegaly
• metabolic acidosis

Front 19

Anticonvulsant use baby

Back 19

• cardiac defects
• dysmorphic craniofacial features
• hypoplastic nails
• distal phalanges
• IUGR
• microcephaly

Front 20

What might hepatosplenomegaly in newborns be seen in?

Back 20

• metabolic diseases
  
• storage disease
  
• HIV vertical transmission
  
• intrinisc liver disease
  
• congenital infections
  

Front 21

What might lead to absent red reflex in newborn?

Back 21

• Congenital cataracts
  
• Retinoblastoma
  

Front 22

Chorioretinitis in newborn due to...?

Back 22

• Congenital toxoplasmosis
  
• CMV infection
  

Front 23

Tremors in newborn cause?

Back 23

Maternal substance use