Nokea
A 4-year-old girl with a history of recurrent epistaxis and easy bruising is referred to you for evaluation. She is found to have a prolonged PTT and a factor VIII level that is less than 1%. Both parents have a history of excessive bleeding. She is admitted with a severe episode of epistaxis, and your colleague orders 40 IU/kg of recombinant factor VIII. Her epistaxis resolves initially but within an hour starts again at the same severity as before. What is the best next step?
- A. Infuse a von Willebrand factor concentrate.
- B. Give another dose of recombinant factor VIII concentrate.
- C. Call otorhinolaryngology to pack her nose.
- D. Check for a factor VIII inhibitor.
Correct Answer: A
Rationale: The correct answer is A: Infuse a von Willebrand factor concentrate. In this case, the 4-year-old girl with a factor VIII deficiency did not respond to recombinant factor VIII, suggesting a possible von Willebrand disease (vWD) as well. Infusing von Willebrand factor concentrate can help address the underlying vWD component, which is necessary for adequate hemostasis. Option B is incorrect because giving another dose of recombinant factor VIII won't address the potential vWD deficiency. Option C is not the best next step as packing the nose does not address the underlying bleeding disorder. Option D is not the immediate next step as checking for a factor VIII inhibitor is important but can be done after addressing the acute bleeding episode with appropriate therapy.
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A 20-month-old otherwise healthy male presents late for his 18-month well child check. During his first year of life, he took iron-fortified formula and had a point-of-care hemoglobin (Hgb) of 12 g/dL at his 1-year well child check. His mother reports that he is a picky eater but loves milk and has recently become obsessive about chewing the corners of his cardboard books. Physical examination is normal except for a flow murmur. Which combination of laboratory test results listed below would most likely characterize this patient?
- A. Hgb 8.7 g/dL, mean corpuscular volume (MCV) 60 fL, serum ferritin 2 ng/mL
- B. Hgb 12.0 g/dL, MCV 80 fL, serum ferritin 30 ng/mL
- C. Hgb 9.2 g/dL, MCV 60 fL, serum ferritin 30 ng/mL
- D. Hgb 11.2 g/dL, MCV 90 fL, serum ferritin 7 ng/mL
Correct Answer: A
Rationale: The correct answer is A because it indicates iron deficiency anemia. The low Hgb of 8.7 g/dL is below normal range for his age. The MCV of 60 fL is low, indicating microcytic anemia which is characteristic of iron deficiency. The serum ferritin level of 2 ng/mL is very low, supporting the diagnosis.
Choice B is incorrect as the Hgb and MCV are within normal range, and the ferritin level is not indicative of iron deficiency. Choice C has a low Hgb but normal MCV and ferritin level. Choice D has a normal Hgb and low ferritin, but the MCV is high, inconsistent with iron deficiency anemia.
Plummer Vinson syndrome is not associated with:
- A. angular stomatitis
- B. splenomegaly
- C. clubbing
- D. post cricoid web
Correct Answer: C
Rationale: The correct answer is C: clubbing. Plummer Vinson syndrome is characterized by the triad of iron deficiency anemia, dysphagia, and esophageal webs. Clubbing is not a typical feature of Plummer Vinson syndrome. Angular stomatitis (A), splenomegaly (B), and post cricoid web (D) are commonly associated with Plummer Vinson syndrome due to chronic iron deficiency anemia. Clubbing is more commonly seen in conditions such as chronic respiratory or cardiac diseases, not in Plummer Vinson syndrome.
A young child with consanguineous parents has developmental delay and a history of multiple recurrent bacterial infections and short stature. He presents to the emergency department following trauma and requires a blood transfusion. Blood work identifies leukocytosis, neutrophilia, and the Bombay blood group (absent H antigen as well as absent A and B antigens). What is this patient's diagnosis?
- A. Chediak-Higashi syndrome
- B. Leukocyte adhesion deficiency (LAD) Type II
- C. CD18 deficiency
- D. Griscelli syndrome
Correct Answer: B
Rationale: The correct answer is B: Leukocyte adhesion deficiency (LAD) Type II. This patient's symptoms of recurrent bacterial infections, leukocytosis, neutrophilia, short stature, and Bombay blood group (lack of H antigen) are characteristic of LAD Type II. In LAD Type II, there is a defect in fucose metabolism, leading to impaired leukocyte adhesion and migration, causing immune dysfunction. Chediak-Higashi syndrome (A) presents with oculocutaneous albinism, recurrent infections, and giant granules in leukocytes. CD18 deficiency (C) is a type of LAD characterized by mutations in the CD18 gene causing impaired integrin function. Griscelli syndrome (D) presents with silvery hair, immunodeficiency, and neurological deficits, not matching this patient's symptoms.
You have a new patient consult in clinic this morning. The referral packet includes the newborn screen report, which is flagged abnormal hemoglobinopathy screen, F, A, Bart's, refer to hematology, and a complete blood count done at 4 years of age with a hemoglobin of 10 g/dL and an MCV of 68. The pediatrician has informed the parents the child has some form of alpha thalassemia. The older brother had the same newborn screen results but had a normal complete blood count when checked. The mother wants to know why her second child has an abnormal complete blood count when she and her husband do not have any blood problems. How would you respond to the child's mother?
- A. The mother and father are both silent carriers and each passed a deleted alpha globin allele to their child. The child inherited a trans-deletion genotype alpha thalassemia trait.
- B. The mother has cis deletion alpha thalassemia and the father has no alpha globin deletion, giving the child alpha thalassemia trait.
- C. Neither parent has an alpha globin deletion; this was a new spontaneous mutation causing alpha thalassemia in the child.
- D. Both parents carry cis deletions in the alpha globin gene cluster.
Correct Answer: A
Rationale: The correct answer is A because both parents are silent carriers, each passing a deleted alpha globin allele to their child, resulting in a trans-deletion genotype alpha thalassemia trait. This explanation aligns with the child's abnormal complete blood count and the family history.
Choice B is incorrect because it states that the mother has cis deletion alpha thalassemia, which is not supported by the information provided.
Choice C is incorrect as it suggests a new spontaneous mutation causing alpha thalassemia in the child, which is not consistent with the genetic inheritance pattern described.
Choice D is incorrect because it claims both parents carry cis deletions in the alpha globin gene cluster, which contradicts the scenario where the parents are silent carriers.
Which statement is correct regarding lymphocyte counts in infants versus adults?
- A. NK-cell numbers are lowest at birth and increase with age.
- B. B-cell numbers are highest at birth and decline with age.
- C. T-cell numbers in infants are higher than in adults.
- D. Infants have low lymphocyte counts that increase with age.
Correct Answer: C
Rationale: The correct answer is C because T-cell numbers in infants are indeed higher than in adults. This is due to the active development of the immune system in infants, leading to a higher proportion of T-cells.
A is incorrect because NK-cell numbers in infants are actually higher at birth and decrease with age.
B is incorrect because B-cell numbers are lower at birth and increase with age.
D is incorrect because infants do not have low lymphocyte counts; their immune system is actively developing, leading to higher lymphocyte counts compared to adults.