A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome

A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome in the Department of Hematology, Beijing Children's hospital was retrospectively analyzed. The child, a 3-year-old girl, had a history of recurrent cutaneous petechias, and multiple episodes of pancytopenia. She was examined for café au lait spots, growth retardation, and microcephaly. Fanconi anemia (FA) was highly suspected according to the clinical manifestations and laboratory tests of the child, and was diagnosed as Amed syndrome combined with 3q29 microduplication syndrome according to the genetic results. Amed syndrome is an autosomal recessive multisystem disorder characterized by global developmental delay, impaired intellectual development, bone marrow failure and myelodysplastic syndrome (MDS) in childhood, and global dysplasia and short stature. The disease is caused by combination mutations of ADH5 and ALDH2 genes, which belongs to a special type of inherited bone marrow failure syndrome (IBMFS). Therefore, for the repeated pancytopenia in childhood, we should be alert to the possibility of congenital bone marrow failure syndrome, improve genetic testing as soon as possible, and carry out hematopoietic stem cell transplantation (HSCT) when necessary. 3q29 microduplication syndrome is mainly due to the delayed development of neurological symptoms. This syndrome may affect the growth and development of children together with ADH5 and ALDH2 genes.