You receive a phone call from a community pediatrician who is caring for a 2-year-old toddler with a cancer predisposition syndrome. The pediatrician describes a child at the 95th percentile for height and weight with a history of corrective oral surgery to reduce a large tongue and a history of an omphalocele in infancy. The pediatrician is currently performing ultrasound of the abdomen and laboratory evaluation for this patient every 3 months. Which tumor is this patient most at risk of developing?

Correct Answer: D

Rationale: Step-by-step rationale for why the correct answer is D, Nephroblastoma: 1. The child has a cancer predisposition syndrome, likely Beckwith-Wiedemann syndrome (BWS). 2. BWS is associated with an increased risk of developing Wilms tumor (nephroblastoma). 3. The large tongue, omphalocele, and overgrowth placing the child at the 95th percentile for height and weight are all characteristic features of BWS. 4. Therefore, the patient is most at risk of developing nephroblastoma. Summary of why the other choices are incorrect: A: Pleuropulmonary blastoma - Not typically associated with BWS or the described clinical features. B: Hepatocellular carcinoma - Not commonly linked to BWS or the clinical presentation provided. C: Cystic nephroma - Not a typical tumor associated with BWS or the clinical findings described in the patient.

Correct Answer: D

Rationale: The correct answer is D: Lumbar puncture and cerebrospinal fluid (CSF) analysis. In Hodgkin lymphoma staging, CNS involvement is rare at initial presentation. Therefore, routine CSF analysis is not recommended unless there are specific neurological symptoms suggestive of CNS disease. A lumbar puncture carries risks of complications and should not be performed routinely. Choices A, B, and C are appropriate for staging in Hodgkin lymphoma to evaluate for distant metastases and characterize disease extent.

Correct Answer: D

Rationale: Step 1: The patient's pain is described as burning, tingling, and shooting in her left leg, which suggests neuropathic pain. Step 2: The pain worsens with hot showers, indicating sensitivity to temperature changes, a common feature of neuropathic pain. Step 3: Gabapentin is a first-line medication for neuropathic pain, as it stabilizes nerve cells and reduces abnormal pain signaling. Step 4: Starting low and titrating upward on gabapentin dose helps minimize side effects and optimize pain relief. Step 5: Methadone (Choice A) is not the best option for neuropathic pain. Increasing immediate release oxycodone (Choice B) may lead to opioid tolerance. Amitriptyline (Choice C) may help neuropathic pain but is not as specific as gabapentin.

Correct Answer: A

Rationale: The correct answer is A: Abnormal lysosomal biogenesis. In this case, the clinical presentation of silvery hair and hypopigmented skin suggests a diagnosis of Chediak-Higashi syndrome, a rare autosomal recessive disorder affecting lysosomal function. The abnormal leukocyte count and neutrophil percentage indicate impaired immune function due to defective lysosomal biogenesis. The other choices, B: Abnormal ribosome function, C: Abnormal phagocytosis of opsonized particles, and D: Abnormal mitochondrial activity, do not align with the clinical presentation and laboratory findings of this specific case.

Correct Answer: A

Rationale: The correct answer is A. A semen analysis at this point would provide accurate information about future fertility because it assesses sperm count, motility, and morphology, which are crucial indicators of fertility potential. This is important for the patient to understand his current fertility status and make informed decisions about future fertility preservation options. Choice B is incorrect because males are also susceptible to gonadal toxicity from alkylating agents, and there is no evidence to suggest that they can maintain gonadal function at higher dosages compared to females. Choice C is incorrect because sperm cryopreservation should ideally have been offered at the time of leukemia diagnosis, but it is not too late to assess current fertility status with a semen analysis. Choice D is incorrect as the patient's primary concern is infertility, not testosterone deficiency, which is a different issue altogether.