T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome.
Seckel syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism, skeletal defects, mental and prenatal growth retardation. About 50 cases have been reported in the literature. Hematologic abnormalities with associated chromosomal fragility have been noted in about 15% of the reported cases. We report a patient with Seckel syndrome with myelodysplastic features and clonal T-cells in the bone marrow but no evidence of chromosomal fragility. After 5 years of follow-up, this patient remains asymptomatic without any treatment and with stable peripheral blood counts.
Department of Medicine, Bellevue Hospital Center and New York University School of Medicine, New York, NY 10016, USA.
Asher
A
Chanan-Khan
Beata
B
Holkova
Mary Ann
MA
Perle
Elsa
E
Reich
C Daniel
CD
Wu
Giorgio
G
Inghirami
Kenichi
K
Takeshita
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D002869:Chromosome Aberrations; D002999:Clone Cells; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000473:pathology; D013577:Syndrome; D013601:T-Lymphocytes / Q000276:immunology*