Abstract
Background Sinus histiocytosis with massive lymphadenopathy (also known as Rosai-Dorfman disease
[RDD]) is a benign but chronic cervical lymphadenopathy associated with systemic inflammation.
Although extranodal manifestations of RDD have been described, isolated central nervous
system (CNS) involvement is exceedingly rare.
Case Description We present the case of a 66-year-old woman who presented with 3 weeks of intermittent
headaches, diplopia, and increasing confusion who was found on work-up to have isolated
hypothalamic RDD, evidenced by a dense admixture of large histiocytic cells admixed
with numerous small mature lymphocytes and some scattered plasma cells and neutrophils
on stereotactic brain biopsy. Over 19 months of follow-up, neurologic examination
continues to reveal stable bilateral partial abducens nerve palsies without diplopia,
and a new gradual onset short-term memory loss. Interim treatment for the histiocytic
lesion consisted of 10 cycles of external-beam radiation therapy along with high-dose
steroids. The patient currently experiences minimal functional loss from treatment
of her intracranial sinus histiocytosis, with a Karnofsky performance status of 80,
and she remains without any disease involvement outside of the CNS.
Conclusion Because misdiagnosis of a hypothalamic contrast-enhancing lesion could potentially
lead to therapeutic mismanagement and poor outcomes, it is important to consider RDD
in the differential diagnosis.
Keywords
Rosai-Dorfman disease - hypothalamus - central nervous system - sinus histiocytosis
with massive lymphadenopathy - CNS
