It's Not Just a FAD (EHR Fatigue Syndrome)

MRI brain: enhancing chiasmal and hypothalamic lesion with surrounding vasogenic edema extending into the tracts, without leptomeningeal spread, most likely pilocytic astrocytoma. Endocrinology consult: hypopituitarism [AM cortisol 5.9, free thyroxine 0.7, and ACTH 83, LH and FSH low but on birth control pills, prolactin 120 (high)]. She was started on hydrocortisone and levothyroxine with increased energy. She had been a marathon runner but was no longer running because of right lower back pain. MRI pelvis: indeterminate lesions right hemi-sacrum. Sacral biopsy: marked histiocytic infiltrate with cells positive for Langerin, S100 and CD1a immunostains, consistent with Langerhans cell histiocytosis (LCH). Other negative tests: bone marrow biopsy, CT chest and PET scan (only uptake in known pelvic/ intracranial lesions).LCH is characterized by proliferation of CD1a+ dendritic cells. LCH encompasses a range of clinical presentations and includes diseases previously designated as eosinophilic granuloma, Letterer-Siwe disease and Hand-Schuller-Christian syndrome, which were initially separated on the basis of organ involvement and disease severity. (1-3) LCH can affect bone, lung, hypothalamus, pituitary gland, skin, lymph nodes, liver and other organs (1-3). This disease predominantly affects children; adult onset occurs in only ~ 10%.CNS involvement in LCH most commonly involves the hypothalamic-pituitary system causing DI, but any part of the CNS can be involved (4). LCH with CNS disease is more likely to be multi-systemic and have skull lesions (5). While visual compromise in LCH is common from orbital lesions, only a few cases have been reported of intracranial visual pathway involvement (6).Chemotherapy with cladribine was started with improvement in her symptoms (7-9). MRI 3 months after treatment: hypothalamic lesion significantly reduced; PET: markedly reduced activity in the pelvic lesions. Visual acuity 20/20- and color normal OU. Visual fields: normal foveal threshold, inferior bitemporal defects.