deamino-arginine-vasopressin and Bone-Diseases

Langerhans cell histiocytosis (LCH) is a rare disorder, characterised by a monoclonal proliferation of aberrant histiocytes that accumulate in and infiltrate into different organs. When the hypothalamic-pituitary axis is involved, central diabetes insipidus (CDI) can be its first manifestation. Three cases of LCH with central diabetes insipidus were retrospectively analyzed: Case 1 is a 41-year old female presenting with polyuria and polydipsia. Diabetes insipidus was diagnosed and treated with desmopressin. MRI pituitary showed hypophysitis. Subsequently, she developed bone lesions and a biopsy demonstrated LCH. Case 2 is a 51-year old female presenting in 2009 with polyuria and polydipsia. Diabetes insipidus was diagnosed and treated with desmopressin. MRI pituitary revealed hypophysitis. LCH was suspected because of known pulmonary histiocytosis. Coexisting bone lesions were biopsied and confirmed LCH. Case 3 is a 44-year old female presenting with diabetes insipidus. She was treated with desmopressin as well. MRI of the pituitary gland showed impressive thickening of the infundibulum. A few months later, she developed skin lesions and a biopsy revealed LCH. Conclusively, LCH is a rare, elusive and probably underdiagnosed disease with a broad disease spectrum. Due to infiltration of the hypothalamic-pituitary axis, CDI can be the first manifestation, even before LCH is diagnosed. Therefore, LCH should be considered in the diagnostic workup of CDI.

Topics: Adult; Antidiuretic Agents; Biopsy; Bone Diseases; Deamino Arginine Vasopressin; Diabetes Insipidus, Neurogenic; Diagnosis, Differential; Female; Histiocytosis, Langerhans-Cell; Humans; Magnetic Resonance Imaging; Middle Aged; Pituitary Diseases; Pituitary Gland; Skin Diseases

Multifocal eosinophilic granuloma is part of the spectrum of histiocytosis X, in which the unifying feature is the proliferation and infiltration of histiocytes. Central nervous system (CNS) involvement has a predilection for the hypothalamic nuclei, and these infiltrates appear as high signal foci on T2-weighted magnetic resonance (MR) images that completely resolve after effective chemotherapy. Intradiploic skull lesions are well delineated with MRI, and the relation to underlying brain may be confidently assessed. MRI is the procedure of choice for staging multifocal eosinophilic granuloma in the skull and CNS, as well as for monitoring response to therapy.

Topics: Antineoplastic Combined Chemotherapy Protocols; Bone Diseases; Child, Preschool; Combined Modality Therapy; Deamino Arginine Vasopressin; Diabetes Insipidus; Drug Therapy, Combination; Eosinophilic Granuloma; Female; Humans; Hypothalamic Diseases; Magnetic Resonance Imaging; Prednisone; Skull; Ventromedial Hypothalamic Nucleus