Neurocutaneous disorders Quiz: Ace Your Exams

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A 3-year-old boy is brought by his parents to the emergency department due to a sudden onset of seizure. The mother reports that one hour ago during dinner, the patient started having a generalized seizure that lasted approximately 1 minute. His parents report that the patient has had 3 prior hospitalizations for similar events. They also mention he was diagnosed with a heart condition, but they are unable to remember the exact details. The patient was born to a 24-year-old primigravida through normal vaginal birth and delivery. There are no known genetic conditions in the family. The patient’s temperature is 37°C (98.6°F), pulse is 88/min, and blood pressure is 122/72 mmHg. On physical examination, multiple smooth flesh-colored, tiny papules are present over the sides of the nose. Additionally, there is a brown fibrous plaque on the forehead. Which of the following is most likely the cause of this patient’s condition?

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Dysfunction of a tumor suppressor protein

Nonsense mutations in the dystrophin gene

Chromosomal microdeletion

Genomic imprinting

Nucleotide repeat expansion

Activating mutation in the GNAQ gene