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.

Congenital Rosai–Dorfman disease presenting with anemia, thrombocytopenia, and hepatomegaly

“…Liver biopsy was necessary to establish the diagnosis of RDD as other diagnostic procedures were not definite. The patient was successfully managed conservatively 7.…”

Causa poco común de obstrucción nasosinusal recurrente: Enfermedad de Rosai-Dorfman

“…Esta puede ir desde la regresión espontánea, linfadenopatías persistentes o bien llegar hasta recurrencias sintomatológicas intermitentes según su ubicación. También cabe destacar la posibilidad que la enfermedad se presente sin la presencia de las linfadenopatías, tal como ocurre en nuestro caso clínico 17 . Por este motivo, si bien se trata de una enfermedad rara, ésta debe ser considerada y se debe tener un alto índice de sospecha frente a casos de obstrucción nasal persistentes sin etiología precisa.…”

Letters to the Editor

“…This disorder generally presents within the first two decades of life and has a self‐limiting course. Because of its rarity and mostly subclinical manifestations during the infantile and neonatal period, 2 exclusively extranodal involvements without cardinal lymphadenopathy would create a diagnostic challenge to paediatricians 3 . Here we describe the first case to our knowledge of a neonate with congenital RDD presenting with solitary osseous involvement of the rib without association with characteristic lymphadenopathy or other systemic manifestations.…”

“…The differential diagnoses of lytic bone lesions in newborns include infantile myofibromatosis, congenital syphilis, neonatal osteomyelitis, neonatal neuroblastoma, congenital pseudoarthrosis and infantile systemic hyalinosis. Although congenital RDD is known to occur rarely in neonates, 2 a primary osteolytic lesion of congenital RDD has never been reported previously. As a rare entity, RDD might be often underdiagnosed especially among neonates because of a low index of suspicion by paediatricians or radiologists.…”