Special diets in pediatric conditions — MCQs

A 6-month-old boy is brought to the emergency department by his mother because of recurrent vomiting and yellowing of his eyes. The mother says that he has been eating poorly since she started weaning him off of breast milk 5 days ago. At this time, mashed vegetables and fruits were added to his diet. Examination shows scleral jaundice and dry mucous membranes. The tip of the liver is palpable 4 cm below the right costal margin. His serum glucose concentration is 47 mg/dL, serum alanine aminotransferase is 55 U/L, and serum aspartate aminotransferase is 66 U/L. Which of the following enzymes is most likely deficient?

A 6-month-old boy is brought to a pediatrician by his parents for his first visit after they adopt him from a European country. His parents are concerned about the boy’s short episodes of shaking of his arms and legs; they believe it might be epilepsy. They also note that the child is less responsive than other children of his age. The family is unable to provide any vaccination, birth, or family history. His pulse is 130/min, respiratory rate is 28/min, and blood pressure is 90/50 mm Hg. The boy has a light skin tone and emits a noticeable musty body odor. Which of the following should be supplemented in this patient’s diet?

A 22-year-old man comes to the physician for a routine physical examination. He feels well. He has no history of major medical illness and takes no medications. His vital signs are within normal limits. Examination shows no abnormalities. Laboratory studies, including a complete blood count and a standard electrolyte panel, are within normal limits. Urine dipstick is negative for glucose; a reducing substance test result of the urine is positive. Which of the following is the most appropriate dietary recommendation for this patient?

A 2-year-old boy is brought to the emergency department by his mother 30 minutes after having a generalized tonic-clonic seizure. He was born at home and has not attended any well-child visits. He is not yet able to walk and does not use recognizable words. His paternal uncle has a severe intellectual disability and has been living in an assisted-living facility all of his life. The boy's urine phenylacetate level is markedly elevated. Which of the following amino acids is most likely nutritionally essential for this patient because of his underlying condition?

A previously healthy 20-year-old woman comes to the physician because of recurrent abdominal cramps, bloating, and diarrhea for 4 months. She describes her stools as greasy, foul-smelling, and difficult to flush. During this time she has had a 6-kg (13.2-lb) weight loss. She has no personal or family history of serious illness. Physical examination shows pallor and cheilitis. Laboratory studies show a hemoglobin concentration of 11 g/dL. Serum concentrations of electrolytes, urea nitrogen, and creatinine are within the reference range. Test of the stool for occult blood is negative and stool microscopy reveals no pathogens and no leukocytes. Analysis of a 24-hour stool sample shows 12 g of fat. The patient is asked to consume 25 g of d-xylose. Five hours later, its concentration is measured in urine at 2 g (N = > 4 g/5 h). The test is repeated after a two-week course of rifaximin, but the urinary concentration of d-xylose remains the same. Which of the following is the most likely diagnosis?

You are counseling a mother whose newborn has just screened positive for a deficit of phenylalanine hydroxylase enzyme. You inform her that her child will require dietary supplementation of which of the following?

A 5-month-old boy presents with increasing weakness for the past 3 months. The patient’s mother says that the weakness is accompanied by dizziness, sweating, and vertigo early in the morning. Physical examination shows hepatomegaly. Laboratory findings show an increased amount of lactate, uric acid, and elevated triglyceride levels. Which of the following enzymes is most likely deficient in this patient?

A 4-week-old infant is brought to the physician by his mother because of blood-tinged stools for 3 days. He has also been passing whitish mucoid strings with the stools during this period. He was delivered at 38 weeks' gestation by lower segment transverse cesarean section because of a nonreassuring fetal heart rate. He was monitored in the intensive care unit for a day prior to being discharged. His 6-year-old brother was treated for viral gastroenteritis one week ago. The patient is exclusively breastfed. He is at the 50th percentile for height and 60th percentile for weight. He appears healthy and active. His vital signs are within normal limits. Examination shows a soft and nontender abdomen. The liver is palpated just below the right costal margin. The remainder of the examination shows no abnormalities. Test of the stool for occult blood is positive. A complete blood count and serum concentrations of electrolytes and creatinine are within the reference range. Which of the following is the most appropriate next step in management?

A 15-month-old girl is brought to the pediatrician by her mother with a history of 3 episodes of breath-holding spells. The patient’s mother says that this is a new behavior and she is concerned. The patient was born at full term by spontaneous vaginal delivery with an uneventful perinatal period. She is also up to date on her vaccines. However, after the age of 6 months, the patient’s mother noticed that she was not as playful as other children of similar age. She is also not interested in interacting with others and her eye contact is poor. Her growth charts suggest that her weight, length, and head circumference were normal at birth, but there have been noticeable decelerations in weight and head circumference. On physical examination, her vital signs are normal. A neurologic examination reveals the presence of generalized mild hypotonia. She also makes repetitive hand wringing motions. Which of the following clinical features is most likely to develop in this patient during the next few years?

A 16-year-old boy is brought to the physician for a follow-up examination. He has a 6-year history of type 1 diabetes mellitus and his only medication is insulin. Seven months ago, he was treated for an episode of diabetic ketoacidosis. He has previously been compliant with his diet and insulin regimen. He wants to join the high school soccer team. Vital signs are within normal limits. His hemoglobin A1C is 6.3%. Which of the following is the most appropriate recommendation at this time?