title: Congenital Rosai-Dorfman disease without lymphadenopathy.
abstract: Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder with massive lymphadenopathy. We here describe RDD of a neonate who presented with paleness and hepatosplenomegaly but not lymph-node swelling. Routine laboratory studies showed anemia, thrombocytopenia, and an elevated value of gamma-glutamyl transpeptidase. Histological examination of the liver revealed a proliferation of histiocytes with abundant eosinophilic cytoplasm, which were positive for S-100 protein and CD68 but not CD1a and did not reveal Birbeck granules. Radiological studies showed hepatosplenomegaly and a narrowing of the hepatic vein, which might have contributed to hypersplenism resulting in anemia and thrombocytopenia. This case is thought to be congenital RDD without lymphadenopathy.
authors.affiliation: Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori 1, Niigata, 951-8510, Japan.
authors.forename: Haruko
authors.initials: H
authors.lastname: Iwabuchi
authors.forename: Toshio
authors.initials: T
authors.lastname: Kakihara
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tanaka
authors.forename: Makoto
authors.initials: M
authors.lastname: Uchiyama
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Shibuya
authors.forename: Hajime
authors.initials: H
authors.lastname: Umezu
mesh_terms: D003937:Diagnosis, Differential; D006644:Histiocytes / Q000166:cytology / Q000378:metabolism; D015618:Histiocytosis, Sinus / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000166:cytology / Q000473:pathology / Q000503:physiopathology; D008206:Lymphatic Diseases / Q000473:pathology / Q000503:physiopathology*; D008264:Macrophages / Q000166:cytology / Q000378:metabolism; D008297:Male