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A 3-Week-Old Boy Is Brought to the Emergency Department Due

question 692

Multiple Choice

A 3-week-old boy is brought to the emergency department due to a seizure. The patient was born at term to a 23-year-old woman who had no prenatal care and delivered him at home. The mother states that he was healthy until this morning, when he developed a low-grade fever. The patient has been very fussy and refused to nurse at his last feed. Subsequently, he experienced a 4-minute, generalized tonic-clonic seizure with mild perioral cyanosis. Temperature is 38.3 C (100.9 F) . The patient is lethargic but arouses to painful stimuli. Pupils are equal and reactive; the anterior fontanel is full. The remainder of the physical examination is normal. Blood and urine samples are obtained and a lumbar puncture is performed, with results pending. Brain imaging reveals patchy areas of increased attenuation in the cerebral cortex and edema and hemorrhage in the left temporal lobe and brainstem; no intracranial calcifications are seen. Vertical transmission of which of the following is the most likely cause of this patient's presentation?

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Definitions:

Dominant Inheritance

A pattern of inheritance where a single copy of a dominant allele on one chromosome is enough to produce the phenotype.

Huntington's Disease

A hereditary neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms.

Tay-Sachs Disease

A genetic disorder characterized by the destruction of nerve cells in the brain and spinal cord, leading to early childhood death.

European Jews

A demographic group that refers to Jewish individuals and communities with origins in Europe, who share religious, cultural, and historical bonds.