A 5-year-old boy with malformed thumbs and microcephaly has been suffering from prolonged bleeding episodes, extreme fatigue, and persistent repetitive infections. Cytogenetic analysis shows increased chromosome breakage with the addition of diepoxybutane. Based on these findings, what is the patient most likely suffering from?
A) CDA II
B) Pure red cell aplasia
C) Diamond-Blackfan anemia
D) Fanconi's syndrome

Question

Quizplus · Accepted Answer

The combination of malformed thumbs and microcephaly, prolonged bleeding, fatigue, and repetitive infections, along with increased chromosome breakage with diepoxybutane, are consistent with a diagnosis of Fanconi's syndrome, which is an inherited DNA repair disorder. CDA II (Congenital dyserythropoietic anemia type II) presents with microcytic anemia and abnormal iron metabolism, Pure red cell aplasia results in a lack of red blood cell production, and Diamond-Blackfan anemia affects red blood cell production and presents with physical abnormalities such as short stature, small head size, and facial abnormalities. These conditions do not typically present with the same combination of symptoms and genetic findings as Fanconi's syndrome.

A 5-Year-Old Boy with Malformed Thumbs and Microcephaly Has Been