deamino-arginine-vasopressin and Histiocytosis--Langerhans-Cell

Central diabetes insipidus (CDI) is a complex and heterogeneous clinical syndrome affecting the hypothalamic-neurohypophyseal network and water balance. A recent national surveillance in Denmark showed a prevalence rate of twenty-three CDI patients per 100,000 inhabitants in five years. The differential diagnosis between several presenting conditions with polyuria and polydipsia is puzzling, and the etiological diagnosis of CDI remains a challenge before the identification of an underlying cause. For clinical practice, a timely diagnosis for initiating specific treatment in order to avoid central nervous system damage, additional pituitary defects and the risk of dissemination of germ cell tumor is advisable. Proper etiological diagnosis can be achieved via a series of steps that start with careful clinical observation of several signs and endocrine symptoms and then progress to more sophisticated imaging tools. This review summarizes the best practice and approach for the diagnosis and treatment of patients with CDI.

Topics: Antidiuretic Agents; Brain Injuries; Brain Neoplasms; Child; Deamino Arginine Vasopressin; Diabetes Insipidus; Diabetes Insipidus, Neurogenic; Diagnosis, Differential; Disease Management; Histiocytosis, Langerhans-Cell; Humans; Magnetic Resonance Imaging; Neoplasms, Germ Cell and Embryonal

Topics: Adolescent; Biopsy; Deamino Arginine Vasopressin; Diabetes Insipidus; Histiocytosis, Langerhans-Cell; Humans; Hypercalcemia; Hypothalamic Diseases; Magnetic Resonance Imaging; Muscle Weakness; Testosterone

Langerhans cell histiocytosis (LCH) is a rare disease that mainly affects children, but this disease is significantly rarer in patients who are older than 15 years. In this disease, any organ can be involved. The skeleton, skin and lung are commonly affected, and isolated hypothalamic-pituitary (HP) involvement is relatively rare. Here we report a 17-year-old adolescent with isolated HP-LCH of enlarged pituitary stalk presented with central diabetes insipidus (CDI).. A 17-year-old male adolescent with polydipsia and polyuria accompanied with elevated serum sodium level and low urine osmolality for 3 weeks was referred to our hospital. After admission, hormonal evaluation showed that his growth hormone (GH) was slightly elevated, and serum osmolality and glucose were normal. The fluid deprivation-vasopressin test demonstrated CDI. Imaging examination showed an obvious thickening of the pituitary stalk. Lymphocytic hypophysitis, sarcoidosis and granulation tissue lesions were suspected. After oral 1-deamino-8-Darginine vasopressin (DDAVP) and prednisone were administered for 2 months, symptoms were relieved, and he discontinued taking the drugs by himself. On reexamination, imaging revealed changes in the size and shape of the pituitary stalk, with thickened nodules. Then, a diagnostic biopsy of the pituitary stalk lesion was performed. Immunohistochemistry confirmed the definitive diagnosis of LCH. The clinical symptoms subsided with oral hormone replacements.. CDI is a rare symptom in children and adolescents. Most of the causes are idiopathic, while others are caused by central nervous system (CNS) disorders. Meanwhile, lymphocytic hypophysitis, germinoma, LCH and other CNS disorders can all present as thickening of the pituitary stalk, diffuse enlargement of the pituitary gland, and weakening of high signal intensity in the neurohypophysis on magnetic resonance imaging (MRI). The differential diagnosis among these diseases depends on immunohistochemistry evidence.

Topics: Adolescent; Autoimmune Hypophysitis; Deamino Arginine Vasopressin; Diabetes Insipidus, Neurogenic; Histiocytosis, Langerhans-Cell; Humans; Hypothalamic Diseases; Male; Pituitary Diseases; Prednisone

Topics: Antidiuretic Agents; Antineoplastic Agents; Biopsy; Child, Preschool; Deamino Arginine Vasopressin; Diabetes Insipidus, Neurogenic; Female; Histiocytosis, Langerhans-Cell; Humans; Magnetic Resonance Imaging; Mercaptopurine; Pituitary Gland; Prednisolone; Skin; Treatment Outcome; Vinblastine

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

Topics: Antidiuretic Agents; Antigens, CD1; Antineoplastic Agents; Child; Deamino Arginine Vasopressin; Drug Therapy, Combination; Female; Histiocytosis, Langerhans-Cell; Humans; Polyuria; Prednisolone; S100 Proteins; Thirst; Vinblastine; Weight Loss

Langerhans cell histiocytosis (LCH) is an idiopathic group of reactive proliferative diseases linked to aberrant immunity, pathologically characterized by clonal proliferation of Langerhans cells. LCH rarely involves the thymus. We report a case of thymic LCH with diabetes insipidus as the first presentation, without evidence of myasthenia gravis and without evidenced involvement of the skin, liver, spleen, bones, lungs and superficial lymph nodes. This present case may have important clinical implications. In screening for LCH lesions, attention should be attached to rarely involved sites in addition to commonly involved organs. Follow-up and imageological examination are very important to a final diagnosis.

Topics: Adolescent; Antidiuretic Agents; Deamino Arginine Vasopressin; Diabetes Insipidus; Histiocytosis, Langerhans-Cell; Humans; Immunohistochemistry; Langerhans Cells; Magnetic Resonance Imaging; Male; Pituitary Gland; Thymectomy; Thymus Gland; Tomography, X-Ray Computed; Treatment Outcome

Langerhans'cell histiocytosis (LCH) comprises a rare group of reticuloendothelial system disorders that can produce focal or systemic manifestations. Diabetes insipidus is considered to be an important indicator of serious underlying diseases in children, including LCH. We report the case of a young patient with monostotic LCH confined to the mandibular ramus, who was diagnosed with the disease after presenting symptoms of central diabetes insipidus and was satisfactorily treated with multi-agent chemotherapy. Additionally, we discuss the clinical, radiographic, histological and immunohistochemical findings, as well as the multidisciplinary approach of this important disease, which should receive attention by dental practitioners, especially when it occurs in children.

Topics: Anti-Inflammatory Agents; Antidiuretic Agents; Child, Preschool; Cytostatic Agents; Deamino Arginine Vasopressin; Diabetes Insipidus; Diagnosis, Differential; Glucocorticoids; Histiocytosis, Langerhans-Cell; Humans; Male; Mandibular Diseases; Prednisone; Vinblastine

Topics: Adult; Antidiuretic Agents; Brain; Deamino Arginine Vasopressin; Diabetes Insipidus; Diagnosis, Differential; Female; Histiocytosis, Langerhans-Cell; Humans; Magnetic Resonance Imaging; Water-Electrolyte Imbalance

We describe a six-yr-old boy who exhibited typical signs and symptoms of LCH with EBV-associated hemophagocytic syndrome from the age of 15 months. Multiple courses of conventional chemotherapy achieved only marginal improvement over the ensuring five yr. During this period, this boy experienced recurrent episodes of hemophagocytic syndrome associated with CMV infection. Five yr after the first diagnosis of LCH, the patient was treated with allogeneic PBSCT from his HLA-identical eight-yr-old brother. PBSCT was performed using a TBI-incorporating conditioning regimen comprising TBI, busulfan, and cyclophosphamide. Diabetes insipidus, typically a permanent consequence of LCH, was well controlled by DDAVP therapy. At the time of writing, this boy is alive and well, and had been disease-free for more than two yr after the PBSCT.

Topics: Antidiuretic Agents; Child; Deamino Arginine Vasopressin; Histiocytosis, Langerhans-Cell; Humans; Immunosuppressive Agents; Leukocyte Count; Male; Peripheral Blood Stem Cell Transplantation; Radiography; Transplantation Conditioning; Transplantation, Homologous

Topics: Administration, Intranasal; Adult; Deamino Arginine Vasopressin; Diabetes Insipidus; Female; Hemostatics; Histiocytosis, Langerhans-Cell; Humans; Hyponatremia; Severity of Illness Index; Water Intoxication

Topics: Antigens, CD1; Biopsy, Needle; Child, Preschool; Deamino Arginine Vasopressin; Diabetes Insipidus; Follow-Up Studies; Histiocytosis, Langerhans-Cell; Humans; Immunohistochemistry; Male; Pituitary Diseases; Risk Assessment; Sensitivity and Specificity; Treatment Outcome

A 48-year-old woman presented with a history of premature menopause, polyuria, polydipsia, fever, and diffuse bony tenderness. Her evaluation revealed central diabetes insipidus, hypothalamic amenorrhea, an elevated free calcium on multiple occasions with an elevated 1,25 dihydroxyvitamin D level, and osteoporosis by densitometry. Skeletal series revealed multiple lytic lesions involving the long bones. The diagnosis of Langerhans' cell granulomatosis was made. She was treated with hormone replacement therapy, radiotherapy, and vinblastine, with a dramatic improvement in her pain and a near normalization of her free calcium. Whereas hypercalcemia has been described in several granulomatous disorders and is secondary to unregulated extrarenal production of 1,25 dihydroxyvitamin D, it is, however, extremely rare in Langerhans' cell granulomatosis. This is the first case report of Langerhans' cell granulomatosis with hypercalcemia and documented elevated increased 1,25 dihydroxyvitamin D level that responded to the treatment of her primary disease.

Topics: Antineoplastic Agents, Phytogenic; Calcitriol; Calcium; Deamino Arginine Vasopressin; Diabetes Insipidus; Estrogen Replacement Therapy; Female; Histiocytosis, Langerhans-Cell; Humans; Hypercalcemia; Middle Aged; Osteoporosis; Vinblastine

Four cases of hypothalamic-pituitary Langerhans cell histiocytosis (LCH) are reported, highlighting the expanding spectrum of clinical and magnetic resonance imaging (MRI) features in adults. The diagnostic challenge of hypothalamic-pituitary LCH is emphasized in cases revealed as supra-sellar tumors with panhypopituitarism or as isolated central diabetes insipidus. Diagnosis is confirmed by histological examination showing infiltration with CD1a positive histiocytes. General guidelines for diagnosis procedure are drawn out, including the neurosurgical biopsy in particular cases.

Topics: Adult; Aged; Blindness; Deamino Arginine Vasopressin; Fatal Outcome; Female; Histiocytosis, Langerhans-Cell; Humans; Lung Diseases; Magnetic Resonance Imaging; Male; Pituitary Diseases; Pituitary Neoplasms; Renal Agents

The incidence of diabetes insipidus secondary to Langerhans' cell histiocytosis (LCH) varies among different reports, ranging from 9.5 to 50%, but it has never been reported in literature in Taiwan. Therefore, we presented a case suffering from polyuria, polydipsia, body weight loss for more than one year and seborreic dermatitis-like skin lesions over the scalp and trunk for more than two years. Her body weight and body length were both less than 3 percentile. Fluid restriction and vasopressin test were performed to differentiate nephrogenic from neurogenic diabetes insipidus. Skin biopsy revealed picture of LCH and LCH with complete central diabetes insipidus was diagnosed. Brain MRI and other laboratory examinations were all within normal limits. She received nasal DDAVP treatment and chemotherapy with TPOG-H 94 protocol. After 3 months treatment, her skin lesions disappeared and daily urine amount returned to normal range.

Topics: Child, Preschool; Deamino Arginine Vasopressin; Diabetes Insipidus; Female; Histiocytosis, Langerhans-Cell; Humans; Magnetic Resonance Imaging

Fourteen of 58 (24%) children with Langerhans cell hisiocytosis (LCH) currently attending the Hospital for Sick Children (London) developed thirst and polyuria during the course of their disease. Three had single-system disease confined to bone, and 11 had multisystem disease. The median age at presentation of LCH was 2 years 0 months, and polyuria/polydipsia developed at a median age of 3 years 9 months (range 1 month before diagnosis of LCH to 4 years after diagnosis). Each child had a water deprivation test with measurement of urinary arginine vasopressin (AVP) to document diabetes insipidus. The doses of 1-desamino-8-D arginine vasopressin (DDAVP) required to control symptoms were compared at diagnosis and at a mean follow-up of 7 years 8 months. Local and systemic treatment was recorded. Ten of 14 children were shown to have "complete" diabetes insipidus, whilest the other four had "partial" diabetes insipidus. Seven children were treated with irradiation. with or without systemic chemotherapy, six with systemic chemotherapy only, and one with DDAVP replacement only. No child, including two with partial diabetes insipidus irradiated within 4 weeks of the onset of symptoms, lost symptoms of polyuria/polydypsia and none was able to discontinue DDAVP replacement. One child treated with Etoposide showed a temporary rise in urinary AVP level to within the normal range but still needed DDAVP to control her symptoms. The mean doses of DDAVP at onset of diabetes insipidus and at follow-up were 9.3 micrograms and 18 micrograms daily, respectively. We conclude that the most appropriate treatment for reversing diabetes insipidus complicating Langerhans cell histiocytosis is yet to be determined. Precise documentation of posterior pituitary dysfunction, including measurement of urinary AVP levels, is essential if the effects of new forms of treatment are to be assessed accurately.

Topics: Child; Child, Preschool; Deamino Arginine Vasopressin; Diabetes Insipidus; Female; Histiocytosis, Langerhans-Cell; Humans; Hypoglycemic Agents; Infant; Male

Topics: Deamino Arginine Vasopressin; Histiocytosis, Langerhans-Cell; Histiocytosis, Non-Langerhans-Cell; Humans; Infant; Lung; Male

Topics: Child, Preschool; Cholangiography; Cholangitis, Sclerosing; Deamino Arginine Vasopressin; Diabetes Insipidus; Female; Follow-Up Studies; Histiocytosis, Langerhans-Cell; Humans; Liver; Liver Cirrhosis, Biliary; Liver Transplantation; Prednisone; S100 Proteins; Skin; Vinblastine; Xanthogranuloma, Juvenile; Xanthomatosis

Topics: Child; Deamino Arginine Vasopressin; Drinking Behavior; Female; Histiocytosis, Langerhans-Cell; Humans; Supraoptic Nucleus; Thirst