A 13-year-old boy was diagnosed as having primary nephrogenic diabetes insipidus, and symptoms developed at 3 years of age. Subsequently he developed bilateral hydronephrosis and a neurogenic bladder. His pedigree could be explored back 5 generations and represented an inheritance as an X-linked recessive transmission factor. He was treated with indomethacin 2 mg/kg/day plus chlorothiazide 500 mg/day and this new treatment showed a markedly decreased urine output and increased urine osmolarity. (Nephrogenic diabetes insipidus, Hydronephrosis, Indomethacin)
Adolescent ; Bladder, Neurogenic/etiology ; Chlorothiazide/therapeutic use ; Diabetes Insipidus/complications ; Diabetes Insipidus/congenital* ; Diabetes Insipidus/drug therapy ; Diabetes Insipidus/genetics ; Drug Therapy, Combination ; Human ; Hydronephrosis/etiology* ; Indomethacin/therapeutic use* ; Male

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

A case of histiocytosis X with the involvement of pituitary stalk in a 5 year old boy was described. He presented with diabetes insipidus and the endocrinological study showed growth hormone deficiency. On computerized tomography and magnetic resonance imaging, the pituitary stalk was abnormally thick. Overlooking of the skull lesion on plain X-ray film led to an erroneous diagnosis of germ cell tumor'. Gross total removal of the lesion and chemotherapy were performed. In the differential diagnosis of suprasellar masses, this disease entity should be included. The importance of histological diagnosis of the infundibular lesion in cases of central diabetes insipidus is also emphasized.
Child, Preschool ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Germ Cells ; Growth Hormone ; Histiocytosis* ; Histiocytosis, Langerhans-Cell* ; Humans ; Magnetic Resonance Imaging ; Male ; Pituitary Gland* ; Skull ; X-Ray Film

Central diabetes insipidus caused by pineal gland neoplasm is rare. Here, we describe a case of central diabetes insipidus and pineal germinoma with seeding to pituitary stalk along CSF pathway. A 27 year-old male patient was admitted due to polyuria, polydipsia, headache, vomiting, diplopia, and decreased visual acuity for recent two months. Urine osmolality measured after water deprivation was below 100mOsm/kg. However, urine osmolality increasd above 300 mOsm/kg with pitressin administration. Brain MRI showed a 2cm sized mass with seeding into pituitary stalk along CSF in pineal region. Surgical biopsy revealed pineal germinoma. Two cycles of chemotherapy with etoposide and cis-platin were done followed by brain irradiation(2,500cGy). Follow up brain MRI after second chemotherapy showed complete remission. The patient had no neurologic and endocrinologic deficit after the treatment.
Adult ; Biopsy ; Brain ; Diabetes Insipidus* ; Diabetes Insipidus, Neurogenic ; Diplopia ; Drug Therapy ; Etoposide ; Follow-Up Studies ; Germinoma ; Headache ; Humans ; Magnetic Resonance Imaging ; Male ; Osmolar Concentration ; Pineal Gland ; Pinealoma ; Pituitary Gland ; Polydipsia ; Polyuria ; Vasopressins ; Visual Acuity ; Vomiting ; Water Deprivation

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

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

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

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

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