Repeated USMLE Questions Step 1 Review | 143

Q- A 55-year-old woman presents with multiple café-au-lait spots and soft, pedunculated skin tumors.
Which genetic defect is associated with this condition?

A- Deletion of chromosome 22q

B- Mutation of the RB tumor suppressor gene

C- Mutation of the NF1 tumor suppressor gene

D- Trinucleotide repeat expansion on chromosome 4

C- Mutation of the NF1 tumor suppressor gene- Neurofibromatosis type 1 presents with café-au-lait spots and neurofibromas due to NF1 gene mutation on chromosome 17.

Q- A 30-year-old woman presents with chronic diarrhea and weight loss. Biopsy of the small intestine shows blunted villi and increased intraepithelial lymphocytes. Symptoms improve when she avoids wheat.
What is the most likely diagnosis?

A- Celiac disease

B- Irritable bowel syndrome

C- Tropical sprue

D- Whipple disease

A- Celiac disease- Celiac disease is an autoimmune reaction to gluten causing villous atrophy, lymphocytic infiltration, and malabsorption, with improvement after removing gluten.

Q- A 29-year-old woman presents with severe abdominal pain and hypotension following a ruptured ectopic pregnancy. Autopsy of the fallopian tube shows large cytoplasmic vacuoles in hepatocytes.
What is the most likely cause of this hepatic change?

A- Amyloidosis

B- Apoptosis

C- Fatty change due to hypoxia

D- Hydropic degeneration

C- Fatty change due to hypoxia- Shock leads to hepatic hypoxia, causing reversible fatty change (steatosis) in hepatocytes due to impaired lipid metabolism.

Repeated USMLE Questions Step 1 Review-143- Pathology

Read this Pathology MCQs Book

More Repeated USMLE Questions Step 1

Leave a Comment