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Abstract Details

A Rare Case of Adult-Onset Isolated Hypothalamic-Pituitary Langerhans Cell Histiocytosis Presenting with Encephalopathy due to Hypercalcemia
General Neurology
P2 - Poster Session 2 (8:00 AM-9:00 AM)
6-004
To report a rare case of adult-onset Langerhans Cell Histiocytosis (LCH) isolated to the hypothalamic-pituitary axis (HPA) presenting with encephalopathy in the setting of hypercalcemia.
LCH is a rare histiocytic neoplasm, mostly affecting the pediatric population. Patients can have variable presentations including painful bone lesions, skin rashes, and diabetes insipidus. Despite skeletal involvement being common, hypercalcemia is extremely rare. An initial presentation of acute encephalopathy due to hypercalcemia, in a patient with isolated central nervous system involvement can falsely suggest an alternative diagnosis such as neurosarcoidosis.
A 27-year-old female with a recent diagnosis of type II diabetes mellitus presented with three months of progressive generalized weakness, fatigue, weight loss followed by one week of acute altered mental status. On examination she was arousable but remained encephalopathic and non-verbal, becoming easily agitated with an otherwise non-focal neurological exam.
Labs were notable for electrolyte abnormalities including severe hypercalcemia of 13.3 mg/dl (iCal 1.83 mmol/L) [reference ranges Ca 8.7-10.7 mg/dl, iCal 0.95-1.32mmol/L] ultimately requiring hemodialysis after she failed more conservative treatments. MRI brain showed an enhancing lesion in the hypothalamus, optic chiasm, extending along the optic tracts, and third ventricle. Cerebrospinal fluid (CSF) analysis was notable for lymphocytic pleocytosis. Interestingly, autoimmune panel in CSF was positive for GFAP-IgG tissue-based-assay. Biopsy of the hypothalamic lesion showed a lymphohistiocytic rich lesion with immunohistochemical studies showing CD1a, S-100 positive and BRAF V600E negative atypical histiocytes confirming the diagnosis of LCH. Patient’s neurological exam improved after correction of the hypercalcemia. 
Hypercalcemia and associated encephalopathy is not common in LCH. This case report demonstrates the importance of recognizing the connection between LCH and hypercalcemia in patients with isolated HPA dysfunction presenting with acute encephalopathy. Moreover, it is important to acknowledge that in addition to other disease processes, GFAP IgG antibodies in CSF may be present in LCH.
Authors/Disclosures
Nilufer Yalcin, MD
PRESENTER 		Dr. Yalcin has nothing to disclose.
Allison Osen, MD (Rush University Medical Center) Dr. Osen has nothing to disclose.
Edith Graham, MD (Northwestern University) Dr. Graham has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Graham has received personal compensation in the range of $500-$4,999 for serving as a Consultant for TG Therapeutics. The institution of Dr. Graham has received research support from F. Hoffman-La Roche Ltd. The institution of Dr. Graham has received research support from Novartis.
Starane A. Shepherd, MD Dr. Shepherd has nothing to disclose.
Torrey B. Birch, MD, FÂ鶹´«Ã½Ó³»­ (Brown Neurology) Dr. Birch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Annexon Biosciences.