To describe a case of Langerhans Cell Histiocytosis(LCH) with extensive multisystem involvement presenting with prominent CNS manifestations. 

LCH is an exceedingly rare hematologic-based malignancy with varying presentation based on systems affected. While more common in children, the annual incidence in adults is 1-2 cases/1 million people. 50% of cases being disseminated to bone marrow, lungs, liver, gastrointestinal tract, and spleen. A smaller number of cases affect the nervous system, usually characterized by either mass lesions of pituitary or pineal glands and neurocognitive changes.

A 33-year-old man with no known medical history presented to a community hospital with encephalopathy, hypernatremia and presumed sepsis. Computer tomography (CT) of the head revealed a hypothalamic mass prompting transfer to a tertiary center. Magnetic Resonance Imaging (MRI) of the brain demonstrated a diffuse, homogenous T2FLAIR hyperintense lesion with heterogeneous enhancement involving the hypothalamus and median eminence with extension to mammillary bodies. A pan-CT exhibited inflammatory and cystic lung disease as well as concentric wall thickening of the intrahepatic biliary ducts and porta hepatitis. Skin biopsy of groin lesions was obtained as this was felt to be the source of the patient’s sepsis. This would later be consistent with BRAF negative LCH. Prior to the initiation of high-dose steroids, to treat a potential inflammatory etiology of the patient’s brain lesion, a lumbar puncture was obtained. This exhibited elevated cerebrospinal(CSF) levels of soluble IL-2 receptor(sIL-2R). He initiated chemotherapy with cytarabine/methotrexate for LCH.

An adult male presented with manifestations of panhypopituitarism from a hypothalamic mass and hepatobiliary, pulmonary, and skin findings suggesting LCH. Physicians should consider LCH in patients with endocrinopathies and an enhancing hypothalamic mass and conduct a thorough workup for additional organ involvement that could further suggest a diagnosis. Additionally, sIL-2R is reasonable CSF marker to utilize when central nervous system hematologic malignancies are suspected.