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A 2 1 -year-old man is seen in the hematology clinic For evaluation of pancytopenia. The onset was noted at age 1 2 . and the course has been progressive. Current leukocyte count is 2.1 00/ JLL. hemoglobin 8.LJ g/dl with MCV 98 FL. and platelet count 29.000/ JLL. Reticulocyte percen tage is decreased at 1 .2% of red blood cel ls. On physical exam. he is noted to have short stature and multiple cafe-au-lait spots. While shaki ng his hand. you note that he has no thumb. The peri pheral blood smear and bone marrow biopsy are shown below.
What is the most likely diagnosis?
- Dyskeratosis congenita
- Shwachman-Diamond syndrome
- Fanconi anemia
- Amegakaryocytic thrombocytopenia
Medicine
C. The blood smear reveals pancytopenia with mild macrocytosis, dacrocytes, and throm-bocytopenia, and the bone marrow biopsy is hypo cellular for the patient's age. Fanconi anemia (FA) is an autosomal and x-linked recessive disorder characterized by bone marrow failure, acute myeloge-nous leukemia, solid malignant neoplasms, and developmental abnormalities. FA should be considered in patients with pancytopenia and congenital anomalies. Radial bone and thumb abnormalities, short stature, and skin abnormalities are the most common manifestation of FA. Dyskeratosis congenita is associated with nail dystrophy, oral leukoplakia, and skin hyperpigmentation. Scwachman-Diamond syndrome is associated with exocrine pancreatic dysfunction and skeletal abnormalities. Amegakaryo-cytic thrombocytopenia does not have associated developmental or organ dysfunction.
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