A 19-year-old man presents with multiple lymph nodes in his neck. He reports no current infectious symptoms, and his monospot test is negative. On examination, he has blanching skin lesions on his face and conjunctivae, multiple large lymph nodes in his neck, and poor coordination when tested by tandem walking.
He has past history of poor coordination and walking difficulty as well as recurrent sinopulmonary infections. A biopsy of the lymph node is positive for lymphoma. He is diagnosed with a hereditary disorder that is autosomal dominant, and is associated with defective deoxyribonucleic acid (DNA) repair mechanisms.
Which of the following is the most likely diagnosis?
(A) neurofibromatosis
(B) tuberous sclerosis
© ataxia-telangiectasia
(D) von Hippel-Lindau syndrome
(E) Peutz-Jeghers syndrome
solution:
© Ataxia-telangiectasia is inherited in an autosomal recessive manner. It is associated with non-Hodgkin’s lymphoma, acute lymphocytic leukemia, and stomach cancer. Associated immunoglobulin A (IgA) (± immunoglobulin E [IgE]) deficiency predisposes to infection as well. All the other conditions listed are inherited
in an autosomal dominant manner, and a positive family history is much more likely.