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?
A 32-year-old pregnant woman presents for her routine prenatal visit at 36 weeks of gestation. She was diagnosed with chronic hepatitis B earlier in the pregnancy, with positive HBsAg and HBeAg, and an HBV DNA level of 300,000 IU/mL. She has not started antiviral therapy. The obstetric team discusses strategies to minimize the risk of transmitting hepatitis B to her baby during and after delivery. Which of the following is the most effective way to prevent perinatal transmission of hepatitis B?
A 3-day-old neonate with abdominal distension, bilious vomiting, and failure to pass meconium is diagnosed with meconium ileus. Imaging shows a dilated bowel, and the obstruction is relieved by Gastrografin enema. Genetic testing confirms a mutation in the CFTR gene. Which of the following long-term complications is this neonate most at risk for?
A 2-day-old term male neonate is brought to the hospital with abdominal distension and bilious vomiting. The baby has not passed meconium since birth. Physical examination reveals a distended abdomen without tenderness. Abdominal X-ray shows dilated loops of bowel with no air in the rectum. Contrast enema reveals a microcolon with inspissated material in the terminal ileum. What is the most likely underlying cause of this neonate’s condition?
A mother brings her 3-week-old baby because she is concerned about his feeding. After every feeding, he vomits a lot. On physical examination of the infant, you notice bulging fontanels, jaundice, lethargy, hypotonia, and hepatomegaly. You suspect galactosemia in this baby. Which of the following is not true/FALSE about this disorder?
In the neonatal unit, you went to visit a mother and her 6 day old male baby. She reports that he is hardly sleeping at all, he is ‘super irritable’, his muscles feel tight, he is sweating a lot, sneezing, yawning, vomiting and having diarrhea. In the physical examination, you noticed a jittery baby with high pitched cry, who has a poor sucking reflex, nasal stuffiness, fever, tremors and hypertonia. He has tachycardia and tachypnea. Mother reports the use of buprenorphine through her 9 months of pregnancy for opioid use disorder. She is now breast feeding her baby. What is the next best step in the management of this baby?
Mary, a 32-year-old woman, presents to the endocrinology clinic with complaints of chronic fatigue, cold intolerance, weight gain, and irregular menstrual cycles. She also reports difficulty breastfeeding after the birth of her last child three years ago, despite being able to breastfeed her first child without issues. She has noticed thinning of her pubic and axillary hair and decreased libido. Her history reveals that her last delivery was complicated by severe postpartum hemorrhage requiring blood transfusions. She has not received regular medical follow-ups since then. Physical Examination: •Pale skin and thinning of axillary and pubic hair. •Her temperature is 99 °F, heart rate is 62 beats/min, blood pressure is 98/68 mm Hg, respirations are 19 breaths/min, and oxygen saturation is 97% on room air. •No palpable goiter. •Generalized fatigue and lethargy without focal neurological deficits. Diagnostic Workup: 1.Laboratory Results: Test Result Reference TSH 0.1 µg/mL 0.4 – 4.0 µg/mL Free T₄ 0.3 ng/dL 0.9 – 1.7 ng/dL Cortisol 0800h: 2 µg/dL 0800 h: 5-23 µg/dL//1600 h:3-15 µg/dL; 2000 h: <50% of 0800 h Follicle-stimulating hormone 2 mIU/mL Male: 4 - 25 mIU/mL Female: premenopause 4-30 mIU/mL; midcycle peak 10-90 mIU/mL; postmenopause 40 - 250 mIU/mL Luteinizing hormone 1 mIU/mL Male: 6 - 23 mIU/mL Female: follicular phase 5 - 30 mIU/mL midcycle 75 - 150 mIU/ml postmenopausal 30 - 200 mIU/mL Prolactin (hPRL) 6 ng/mL Male: <17 ng/mL Female: <25 ng/mL Sodium (Na⁺) 136 mEq/L 136 - 146 mEq/L ACTH 2 pg/mL 0800 hr: 10-60 pg/mL Estradiol 4 pg/mL 20-200 pg/mL 2.Imaging: MRI of the pituitary shows an empty sella What is the primary cause of this disorder?
