Langerhans cell histiocytosis (LCH) has diverse clinical manifestations, including intracranial mass lesions. We report a case of LCH that manifested as a suprasellar mass, and initially misdiagnosed as a germ cell tumor. A 29-year-old woman presented with polyuria, polydipsia and amenorrhea. Laboratory findings revealed hypopituitarism with central diabetes insipidus, and a suprasellar mass and a pineal mass were observed on magnetic resonance imaging. Under the clinical impression of a germ cell tumor, the patient was treated with germ cell tumor chemotherapy (cisplatin and etoposide) and radiation therapy without biopsy. After initial shrinkage of the lesions, further growth of the tumor was observed and a biopsy was performed. The histopathology revealed LCH. After chemotherapy according to the LCH III protocol, the tumor disappeared. She is on regular follow up for 5 years without relapse. The present findings indicate that LCH should be included in the differential diagnosis of a suprasellar mass, even in adults, especially when it manifests with diabetes insipidus. This case also underscores the importance of a histopathologic diagnosis in patients with suprasellar tumors before the initiation of a specific therapy, even if the clinical findings are highly suggestive of a specific diagnosis.
Adult ; Amenorrhea ; Biopsy ; Central Nervous System Neoplasms ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Female ; Follow-Up Studies ; Germinoma ; Histiocytosis, Langerhans-Cell* ; Humans ; Hypopituitarism ; Magnetic Resonance Imaging ; Neoplasms, Germ Cell and Embryonal ; Polydipsia ; Polyuria ; Recurrence ; Sella Turcica

Langerhans cell histiocytosis (LCH) has diverse clinical manifestations, including intracranial mass lesions. We report a case of LCH that manifested as a suprasellar mass, and initially misdiagnosed as a germ cell tumor. A 29-year-old woman presented with polyuria, polydipsia and amenorrhea. Laboratory findings revealed hypopituitarism with central diabetes insipidus, and a suprasellar mass and a pineal mass were observed on magnetic resonance imaging. Under the clinical impression of a germ cell tumor, the patient was treated with germ cell tumor chemotherapy (cisplatin and etoposide) and radiation therapy without biopsy. After initial shrinkage of the lesions, further growth of the tumor was observed and a biopsy was performed. The histopathology revealed LCH. After chemotherapy according to the LCH III protocol, the tumor disappeared. She is on regular follow up for 5 years without relapse. The present findings indicate that LCH should be included in the differential diagnosis of a suprasellar mass, even in adults, especially when it manifests with diabetes insipidus. This case also underscores the importance of a histopathologic diagnosis in patients with suprasellar tumors before the initiation of a specific therapy, even if the clinical findings are highly suggestive of a specific diagnosis.
Adult ; Amenorrhea ; Biopsy ; Central Nervous System Neoplasms ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Female ; Follow-Up Studies ; Germinoma ; Histiocytosis, Langerhans-Cell* ; Humans ; Hypopituitarism ; Magnetic Resonance Imaging ; Neoplasms, Germ Cell and Embryonal ; Polydipsia ; Polyuria ; Recurrence ; Sella Turcica

We report the rare case of an adult who was diagnosed with recurrent multisystem Langerhans cell histiocytosis (LCH) involving the pituitary stalk and lung who present with central diabetes insipidus and was successfully treated with systemic steroids and chemotherapy. A 49-year-old man visited our hospital due to symptoms of polydipsia and polyuria that started 1 month prior. Two years prior to presentation, he underwent excision of right 6th and 7th rib lesions for the osteolytic lesion and chest pain, which were later confirmed to be LCH on pathology. After admission, the water deprivation test was done and the result indicated that he had central diabetes insipidus. Sella magnetic resonance imaging showed a mass on the pituitary stalk with loss of normal bright spot at the posterior lobe of the pituitary. Multiple patchy infiltrations were detected in both lung fields by computed tomography (CT). He was diagnosed with recurrent LCH and was subsequently treated with inhaled desmopressin, systemic steroids, vinblastine, and mercaptopurine. The pituitary mass disappeared after two months and both lungs were clear on chest CT after 11 months. Although clinical remission in multisystem LCH in adults is reportedly rare, our case of adult-onset multisystem LCH was treated successfully with systemic chemotherapy using prednisolone, vinblastine, and 6-mercaptopurine, which was well tolerated.
6-Mercaptopurine ; Adult* ; Chest Pain ; Deamino Arginine Vasopressin ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic* ; Drug Therapy* ; Histiocytosis, Langerhans-Cell* ; Humans ; Lung ; Magnetic Resonance Imaging ; Middle Aged ; Pathology ; Pituitary Gland ; Polydipsia ; Polyuria ; Prednisolone ; Ribs ; Steroids ; Tomography, X-Ray Computed ; Vinblastine ; Water Deprivation

Ifosfamide-induced Fanconi syndrome is a rare complication that typically occurs in young patients due to a cumulative dose of ifosfamide > 40-60 g/m2, a reduction in kidney mass, or concurrent cisplatin treatment. It is usually characterized by severe and fatal progression accompanied by type II proximal renal tubular dysfunction, as evidenced by glycosuria, proteinuria, electrolyte loss, and metabolic acidosis. Diabetes insipidus is also a rare complication of ifosfamide-induced renal disease. We herein describe a case involving a 61-year-old man who developed ifosfamide-induced Fanconi syndrome accompanied by diabetes insipidus only a few days after the first round of chemotherapy. He had no known risk factors. In addition, we briefly review the mechanisms and possible therapeutic options for this condition based on other cases in the literature. Patients who receive ifosfamide must be closely monitored for renal impairment to avoid this rare but fatal complication.
Acidosis/chemically induced ; Antineoplastic Agents, Alkylating/*adverse effects ; Chemotherapy, Adjuvant ; Diabetes Insipidus/*chemically induced/diagnosis/therapy ; Fanconi Syndrome/*chemically induced/diagnosis/therapy ; Fatal Outcome ; Histiocytoma, Malignant Fibrous/*drug therapy/pathology ; Humans ; Ifosfamide/*adverse effects ; Male ; Middle Aged ; Neoadjuvant Therapy/*adverse effects ; Time Factors

Diabetes insipidus (DI) is characterized by excessive urination and thirst. This disease results from inadequate output of antidiuretic hormone (ADH) from the pituitary gland or the absence of the normal response to ADH in the kidney. We present a case of transient central DI in a patient who underwent a cardiopulmonary bypass (CPB) for coronary artery bypass grafting (CABG). A 44-yr-old male underwent a CABG operation. An hour after the operation, the patient developed polyuria and was diagnosed with central DI. The patient responded to desmopressin and completely recovered five days after surgery. It is probable that transient cerebral ischemia resulted in the dysfunction of osmotic receptors in the hypothalamus or hypothalamus-pituitary axis during CPB. It is also possible that cardiac standstill altered the left atrial non-osmotic receptor function and suppressed ADH release. Therefore, we suggest that central DI is a possible cause of polyuria after CPB.
Adult ; Antidiuretic Agents/therapeutic use ; Coronary Artery Bypass/*adverse effects ; Coronary Vessels ; Deamino Arginine Vasopressin/therapeutic use ; Diabetes Insipidus, Neurogenic/*diagnosis/drug therapy/etiology ; Humans ; Hypothalamus/radionuclide imaging ; Magnetic Resonance Imaging ; Male ; Pituitary Gland/radionuclide imaging ; Polyuria/diagnosis/etiology ; Postoperative Complications/*diagnosis/drug therapy/etiology

We report a rare case of diabetes insipidus following fire burn injury. Meticulous fluid balance and the use of carbamazepine resulted in her survival.
Burns/*complications ; Carbamazepine/therapeutic use ; Diabetes Insipidus, Neurogenic/drug therapy/*etiology ; Female ; Fires ; Fluid Therapy/methods ; Humans ; Self-Injurious Behavior ; Young Adult

Central diabetes insipidus (DI) is a syndrome characterized by thirst, polydipsia and polyuria. Langerhans cell histiocytosis is one of the etiologies of DI. Recently we experienced a central DI associated with Langerhans cell histiocytosis. The 44 years old female patient complained right hip pain, polydipsia and polyuria. We carried out water deprivation test. After vasopressin injection, urine osmotic pressure was increased from 109 mOsmol/kg to 327 mOsmol/kg (300%). Brain MRI showed a thickened pituitary stalk and air bubble like lesions sized with 5cm, 7cm was shown on fifth L-spine and right hip bone at hip bone CT. CT guided biopsy revealed abnormal histiocytes proliferation and abundant lymphocytes. The final diagnosis was central DI associated with systemic Langerhans cell histiocytosis invading hip bone, L-spine and pituitary stalk. Desmopressin and etoposide chemotherapy were performed to the patient.
Adult ; Biopsy ; Brain ; Deamino Arginine Vasopressin ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic* ; Diagnosis ; Drug Therapy ; Etoposide ; Female ; Hip ; Histiocytes ; Histiocytosis, Langerhans-Cell* ; Humans ; Lymphocytes ; Magnetic Resonance Imaging ; Osmotic Pressure ; Pituitary Gland ; Polydipsia ; Polyuria ; Thirst ; Vasopressins ; Water Deprivation

A 14-month-old girl presented with petechial skin lesions and polydipsia was diagnosed as Langerhans cell histiocytosis (LCH) and responded fairly well to multiple chemotherapies using vincristine, cyclophosphamide, and prednisone. 3 years later, relapses were more common with short periods of remissions in spite of using more intensive therapy with vinblatine and etoposide. At age of 4.5, sudden weight gain and abnormal behavior led to MRI study and revealed an hypothalamic mass. Radiation of 1, 800 cGy was given to the mass and followed by a 75% decrease in measuring and remission of the obesity. Although, there was no evidence of tumor progression in the hypothalamus, she died of sepsis due to systemic progression of the disease at age of 5. LCH commonly present with the symptoms of diabetes insipidus, but hypothalamic mass is not common. We report this case with a brief review of literatures.
Cyclophosphamide ; Diabetes Insipidus ; Drug Therapy ; Etoposide ; Female ; Histiocytosis, Langerhans-Cell* ; Humans ; Hypothalamus ; Infant ; Magnetic Resonance Imaging ; Obesity ; Polydipsia ; Prednisone ; Recurrence ; Sepsis ; Skin ; Vincristine ; Weight Gain

Lymphocytic hypophysitis is a rare inflammatory disorder in the pituitary gland. The lesion is usually confined to the adenohypophysis. Although the involvement of the posterior pituitary gland or the stalk is rare, such patients with diabetes insipidus have been reported. Surgery has been used to make the definitive diagnosis. Recent studies suggest, however, that the pathologic diagnosis may not be necessary always. We reported a case of Lymphocytic hypophysitis managed by methylprednisolone pulse therapy. A 50-year-old premenopausal woman with Lymphocytic hypophysitis and diabetes insipidus was treated with methylprednisolone pulse therapy. Her adenopituitary lesion disappeared and the diabetes insipidus resolved. The optimal management for patients with lymphocytic hypophysitis may be the high index of the suspicion prior to the extensive surgical resection. In addition, methylprednisolone pulse therapy may improve the clinical and MRI findings.
Anti-Inflammatory Agents/*administration & dosage ; Diabetes Insipidus/*drug therapy/etiology ; Female ; Humans ; Lymphocytosis/complications/*drug therapy ; Methylprednisolone/*administration & dosage ; Middle Aged ; Pituitary Diseases/complications/*drug therapy ; Pulse Therapy, Drug

PURPOSE: Langerhans cell histiocytosis (LCH) is a disorder characterized by the proliferation of activated Langerhans cells. Although current therapies are very effective at inducing remission, multiple recurrences and long-term sequelae are common for young patients. For this reason, more effective therapies based on the pathogenesis of LCH are needed. We investigated the use of 2-chlorodeoxyadenosine (2-CdA), a purine analogue with an antiproliferative effect on histiocytes and lymphocytes, in patients with recurrent or refractory LCH. METHODS: Four children with recurrent or refractory LCH received 2-CdA (5~7 mg/m2/day for 5 days, given as a 24-hr continuous infusion and repeated every 21~28 days for 5~7 courses). RESULTS: All four patients had multiorgan involvement, and were heavily pretreated. Of the two children with recurrent diseases, one had complete response and the other showed no active disease except for the remaining diabetes insipidus. Two infants who showed poor early response to previous combination chemotherapy also responded poorly: partial response in one, and progressive disease resulting in death in the other. Toxicity consisted mainly of myelosuppression, but significant infections did not occur. The peripheral neuropathy was not seen. CONCLUSION: 2-CdA, tolerable in children without significant side effects, might be effective for the treatment of recurrent LCH in children. However, the efficacy in infants with multi-system, refractory diseases needs further study. The feasibility of 2-CdA treatment as the first-line therapy for high-risk diseases, and the possibility of combination with other agents needs to be addressed in the future.
Child* ; Cladribine* ; Diabetes Insipidus ; Drug Therapy, Combination ; Histiocytes ; Histiocytosis, Langerhans-Cell* ; Humans ; Infant ; Langerhans Cells ; Lymphocytes ; Peripheral Nervous System Diseases ; Recurrence