A male infant is delivered at 29 weeks of gestation via emergency cesarean section due to severe preeclampsia in the mother. The birth weight is 1200 grams, and Apgar scores are 6 at 1 minute and 8 at 5 minutes. The infant is admitted to the neonatal intensive care unit (NICU) for respiratory support and further monitoring. On day 3 of life, the infant develops episodes of apnea and bradycardia. Physical examination reveals a tense fontanelle, and the infant appears lethargic. No seizures are observed. You become concerned about potential neurological complications such as intraventricular hemorrhage. Which diagnostic tool is most commonly used to detect intraventricular hemorrhage in preterm infants?

A 28-week gestation infant was born via cesarean section due to preterm labor. The infant was immediately intubated and placed on mechanical ventilation in the neonatal intensive care unit (NICU). On the second day of life, the infant developed sudden deterioration, including bradycardia, apnea, and decreased responsiveness. A head ultrasound was performed, which revealed a grade III intraventricular hemorrhage (IVH) involving the germinal matrix and lateral ventricles. Why are preterm infants particularly susceptible to intraventricular hemorrhage (IVH) involving the germinal matrix?

A male infant is delivered via emergency cesarean section due to severe preeclampsia in the mother. The birth weight is 1200 grams, and Apgar scores are 6 at 1 minute and 8 at 5 minutes. The infant is admitted to the neonatal intensive care unit (NICU) for respiratory support and further monitoring. On day 3 of life, the infant develops episodes of apnea and bradycardia. Physical examination reveals a tense fontanelle, and the infant appears lethargic. No seizures are observed. Concerned about potential neurological complications, the NICU team orders a cranial ultrasound, which reveals intraventricular hemorrhage (IVH), classified as Grade III based on the presence of blood in the ventricles and moderate ventricular enlargement. What is the most common risk factor for intraventricular hemorrhage (IVH) in neonates?

A 2-month-old infant is brought to your clinic by her parents for a follow-up after abnormal newborn screening results. The baby appears healthy but has a musty body odor. The parents report she becomes irritable after feedings, which include formula and high-protein foods. A review of her newborn records reveals a positive test for phenylketonuria (PKU). The parents are concerned about potential complications of PKU, including its impact on her development and other organ systems, such as the heart. You explain that certain congenital heart defects are associated with PKU and discuss next steps in her management. Which of the following heart defects are common in patients with phenylketonuria?

A 4-year-old girl is brought to your clinic by her parents for evaluation of persistent health issues. Her medical history reveals chronic cough and frequent respiratory infections, leading to multiple hospitalizations. She has had poor growth despite a good appetite and shows signs of malabsorption such as greasy stools. On physical examination, the child has clubbing of the fingers and appears underweight for her age. Family history reveals that a cousin has a metabolic disorder requiring dietary restrictions, and another relative was diagnosed with lung disease as a teenager. You suspect an inherited genetic condition and consider autosomal recessive disorders in your differential diagnosis. Which of the following is an autosomal recessive disorder?

A 6-year-old boy is brought to your pediatric clinic by his parents who are concerned with his growth and development. They immigrated to the United States a few months ago from Tunisia. He has not been growing as he should compared to other children of his age. At school, he has learning disabilities. His reading skills are poor. His motor skills are inadequate. Other children make fun of him for having a ‘musty body odor’. His behavior becomes erratic when he eats certain foods like beef, pork, lamb, venison, salmon, trout and drinks diet sodas. There are some children in their extended family with similar disorders. On physical examination, the boy has blue eyes and blonde hair; microcephaly, hypertonia and hyperreflexia in all four limbs. When you heard that there are some children in their extended family with similar disorders, you wondered whether this is an inherited autosomal recessive disorder. Which of the following is an autosomal recessive disorder?

A 6-year-old boy is brought to your pediatric clinic by his parents who are concerned with his growth and development. They immigrated to the United States a few months ago from Tunisia. He has not been growing as he should compared to other children of his age. At school, he has learning disabilities. His reading skills are poor. His motor skills are inadequate. Other children make fun of him for having a ‘musty body odor’. His behavior becomes erratic when he eats certain foods like beef, pork, lamb, venison, salmon, trout and drinks diet sodas. On physical examination, the boy has blue eyes and blonde hair; microcephaly, hypertonia and hyperreflexia in all four limbs. Which of the following proteins is involved in the pathogenesis of this disorder?

A 6-year-old boy is brought to your pediatric clinic by his parents who are concerned with his growth and development. They immigrated to the United States a few months ago from Tunisia. He has not been growing as he should compared to other children of his age. At school, he has learning disabilities. His reading skills are poor. His motor skills are inadequate. Other children make fun of him for having a ‘musty body odor’. His behavior becomes erratic when he eats certain foods like beef, pork, lamb, venison, salmon, trout and drinks diet sodas. On physical examination, the boy has blue eyes and blonde hair; microcephaly, hypertonia and hyperreflexia in all four limbs. Biochemical defect in this disorder is in which of the following proteins?

A 6-year-old boy is brought to your pediatric clinic by his parents who are concerned with his growth and development. They immigrated to the United States a few months ago from Tunisia. He has not been growing as he should compared to other children of his age. At school, he has learning disabilities. His reading skills are poor. His motor skills are inadequate. Other children make fun of him for having a ‘musty body odor’. His behavior becomes erratic when he eats certain foods like beef, pork, lamb, venison, salmon, trout and drinks diet sodas. On physical examination, the boy has blue eyes and blonde hair; microcephaly, hypertonia and hyperreflexia in all four limbs. Which of the following investigations would lead to identifying the possible organic cause of pervasive developmental impairment in this boy?