Acquired Monosomy 7 Myelodysplastic Syndrome in a Child With Clinical Features Suggestive of Dyskeratosis Congenita and IMAGe Association

Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.
Pediatric Blood & Cancer (Impact Factor: 2.39). 01/2010; 54(1):154-7. DOI: 10.1002/pbc.22283
Source: PubMed


We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, skin hyperpigmentation, and chronic lung disease. Some of his clinical manifestations were suggestive of dyskeratosis congenita (DC), while other features resembled IMAGe association. DC has been linked to mutations in telomere maintenance genes. The genetic basis of IMAGe association is unknown, although mice harboring a mutation in a telomere maintenance gene, Tpp1, have adrenal hypoplasia congenita. We considered the possibility that this patient has a defect in telomere function resulting in features of both DC and IMAGe association.

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Available from: Shashikant Kulkarni
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    ABSTRACT: Marked differences have been found in molecular characteristics between pediatric and adult myelodysplastic syndrome (MDS) patients. The incidence of gene mutations associated with myeloid malignances in pediatric patients is lower than in adults, while the incidence of aberrant methylation is similar between them. It is also worth noting that novel molecular factors such as mitochondrial DNA mutations may play a role in the pathogenesis of childhood MDS. This article summarizes research advances in molecular biology of pediatric MDS.
    No preview · Article · Sep 2014 · Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics