Fanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy

How I treat MDS and AML in Fanconi anemia.

Fanconi anemia (FA) is the most frequent inherited cause of bone marrow failure (BMF). Most FA patients experience hematopoietic stem cell attrition and cytopenia during childhood, which along with intrinsic chromosomal instability, favor clonal evolution and the frequent emergence in their teens or young adulthood of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). To early ide...

Rapidly progressing pulmonary nodules in a 14 yr old boy.

A caucasian male aged 14 yrs was referred to our Institute in December 1996 for the presence of diffuse pulmonary nodules. He had a history of a few viral infections of the upper airways in early childhood, without lower airway involvement. On September 9, 1996 the patient complained of a sudden chest pain, localized in the left mammary region, worsening during respiration. A chest radiograph w...

Multivisceral Hydatidosis in a 5-Year-Old Boy

Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML

Using next generation sequencing we have systematically analyzed a large cohort of 489 patients with bone marrow failure (BMF), including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), aplastic anemia (AA), and related conditions for the presence of germline (GL) alterations in Fanconi Anemia (FA) and telomerase genes. We have detected an increased frequency of heterozygous FA ge...

A 2-year-old Boy with Seizures

non-bloody, projectile vomiting. Caregivers also reported unusual drowsiness and tactile fever. He had trouble finding the right words and had been using incorrect words in sentences. Anita Gupta, MD; and Surabhi Batra, MD, are pediatric residents at John H. Stroger Jr. Hospital of Cook County, Chicago. Rosibell Del C. Arcia Diaz, MD; and Norman Jacobs, MD, are attending physicians, John H. Str...