BACKGROUND: Langerhans cell histiocytosis (LCH) frequently involves the head and neck and increases the risk of central nervous system (CNS) involvement of LCH, such as central diabetes insipidus (CDI), when the craniofacial bones are involved. We analyzed risk factors and clinical features of CDI among patients with LCH involving the head and neck. METHODS: From January 1, 2000 to May 1, 2018, 63 patients with histologically confirmed LCH in the Department of Pediatrics, Ajou University Hospital were retrospectively analyzed. RESULTS: Forty eight cases (76.2%) of patients had head and neck involvement, and 9 cases (14.3%) in craniofacial bones at the time of initial diagnosis of LCH. CDI was found in 6 cases (9.5%) among all LCH patients, 6 cases (12.2%) among patients with head and neck involvement, and 3 cases (33.3%) among patients with craniofacial bone involvement. Three cases of CDI occurred at the time of initial LCH diagnosis, and another 3 cases occurred at the time of 2, 4, and 8 years after initial LCH diagnosis. Of the 6 CDI patients, 3 had CNS risk lesions and 3 had no CNS risk lesions, but all had multi-system involvement of LCH. CONCLUSION: CDI can occur even in patients with head and neck LCH without CNS risk lesions, if there are multisystem involvement of LCH. Patients with head and neck LCH may develop CDI over time, so continuous observations should be done while considering the occurrence of CDI.
Central Nervous System ; Diabetes Insipidus, Neurogenic* ; Diagnosis ; Head* ; Histiocytosis, Langerhans-Cell* ; Humans ; Neck* ; Pediatrics ; Retrospective Studies ; Risk Factors

A 17-year-old girl presented with polyuria (7 L/day) and polydipsia for one year. Initial urine osmolality was 113mOsm/kg H₂O. Following 6 h of fluid restriction, serum plasma osmolality reached 300mOsm/kg H₂O, whereas urine osmolality was 108mOsm/kg H₂O. Urine osmolality was increased by 427% from 108 to 557mOsm/kg after vasopressin challenge. The patient was diagnosed with central diabetes insipidus, possibly derived from the atypical occupation of a Rathke's cleft cyst at the pituitary stalk following magnetic resonance imaging with enhancement. She was discharged with desmopressin nasal spray (10 µg); urine output was maintained at 2-3 L/day, and urine osmolality was >300 mOsm/kg. Additional pituitary image studies and evaluation of hypopituitarism should be included in the differential diagnosis of patients with central diabetes insipidus.
Adolescent* ; Deamino Arginine Vasopressin ; Diabetes Insipidus, Neurogenic* ; Diagnosis, Differential ; Female* ; Humans ; Hypopituitarism ; Magnetic Resonance Imaging ; Occupations ; Osmolar Concentration ; Pituitary Gland ; Plasma ; Polydipsia ; Polyuria* ; Vasopressins

A 15-year-old boy, who was diagnosed with Alport syndrome and end-stage renal disease, received a renal transplant from a living-related donor. On postoperative day 1, his daily urine output was 10,000 mL despite normal graft function. His laboratory findings including urine, serum osmolality, and antidiuretic hormone levels showed signs similar to central diabetes insipidus, so he was administered desmopressin acetate nasal spray. After administering the desmopressin, urine specific gravity and osmolality increased abruptly, and daily urine output declined to the normal range. The desmopressin acetate was tapered gradually and discontinued 3 months later. Graft function was good, and urine output was maintained within the normal range without desmopressin 20 months after the transplantation. We present a case of a massive polyuria due to transient deficiency of antidiuretic hormone with the necessity of desmopressin therapy immediately after kidney transplantation in a pediatric patient.
Adolescent ; Deamino Arginine Vasopressin ; Diabetes Insipidus, Neurogenic ; Humans ; Kidney Failure, Chronic ; Kidney Transplantation* ; Kidney* ; Male ; Nephritis, Hereditary ; Osmolar Concentration ; Polyuria* ; Reference Values ; Specific Gravity ; Tissue Donors ; Transplants

Group B Streptococcus (GBS) commonly causes neonatal meningitis and sepsis. In infants with late-onset meningitis, fever, irritability or lethargy or both, poor feeding, and tachypnea are common initial signs. Major neurologic sequelae are observed in 29% of children, the most serious including global or profound mental retardation, spastic quadriplegia, cortical blindness, deafness, uncontrolled seizures, hydrocephalus, and hypothalamic dysfunction. We report a 14-day-old full-term female infant who presented with grunting and irritability to the emergency room and was diagnosed with GBS meningitis subsequently complicated with central diabetes insipidus and secondary hypopituitarism. Central diabetes insipidus should be ruled out in infants with complicated GBS meningitis.
Blindness, Cortical ; Child ; Deafness ; Diabetes Insipidus, Neurogenic ; Emergency Service, Hospital ; Female ; Fever ; Humans ; Hydrocephalus ; Hypopituitarism* ; Infant ; Infant, Newborn ; Intellectual Disability ; Lethargy ; Meningitis* ; Quadriplegia ; Seizures ; Sepsis ; Streptococcus ; Tachypnea

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 on a case of limited form of granulomatosis with polyangiitis (GPA) with pituitary involvement which presented with central diabetes insipidus. This rare form of GPA has not been reported in Korea. The patient presented with fever, headache, productive cough, nasal symptoms, and polyuria. Laboratory data and imaging studies demonstrated inflammatory lesions in nasal sinus and lungs. Pituitary stalk thickening and enhancement were observed on brain magnetic resonance imaging. The histopathology of the lung lesions showed chronic active granulomatous inflammation. Polyuria, hyperosmolar hypernatremia, and decreased urine osmolality which responded to synthetic vasopressin analog were consistent with central diabetes insipidus. Based on the clinical findings and histopathological results, a diagnosis of GPA with pituitary involvement was established. Treatment with desmopressin as well as concurrent glucocorticoids and immunosuppressant resulted in clinical improvement.
Brain ; Cough ; Deamino Arginine Vasopressin ; Diabetes Insipidus, Neurogenic* ; Diagnosis ; Fever ; Glucocorticoids ; Headache ; Humans ; Hypernatremia ; Inflammation ; Korea ; Lung ; Magnetic Resonance Imaging ; Osmolar Concentration ; Pituitary Gland ; Polyuria ; Vasopressins

Pulmonary Langerhans cell histiocytosis is an uncommon diffuse cystic lung disease in adults. In rare cases, it can involve extrapulmonary organs and lead to endocrine abnormalities such as central diabetes insipidus. A 42-year-old man presented with polyphagia and polydipsia, as well as a dry cough and dyspnea on exertion. Magnetic resonance imaging of the hypothalamic-pituitary system failed to show the posterior pituitary, which is a typical finding in patients with central diabetes insipidus. This condition was confirmed by a water deprivation test, and the patient was also found to have type 2 diabetes mellitus. Computed tomographic scanning of the lungs revealed multiple, irregularly shaped cystic lesions and small nodules bilaterally, with sparing of the costophrenic angles. Lung biopsy through video-assisted thoracoscopic surgery revealed pulmonary Langerhans cell histiocytosis. On a follow-up visit, only 1 year after the patient had quit smoking, clinical and radiological improvement was significant. Here, we report an uncommon case of pulmonary Langerhans cell histiocytosis that simultaneously presented with diabetes insipidus and diabetes mellitus.
Adult* ; Biopsy ; Cough ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic* ; Diabetes Mellitus* ; Diabetes Mellitus, Type 2 ; Dyspnea ; Follow-Up Studies ; Histiocytosis, Langerhans-Cell* ; Humans ; Lung ; Lung Diseases ; Magnetic Resonance Imaging ; Male* ; Polydipsia ; Smoke ; Smoking ; Smoking Cessation ; Thoracic Surgery, Video-Assisted ; Water Deprivation

Primary granulomatous hypophysitis is a rare inflammatory disorder of the pituitary gland and patients commonly present with symptoms of sellar compression and hypopituitarism. A 48-year-old woman was admitted due to headache and fatigue. Magnetic resonance imaging showed a 21 x 18 x 13-mm round sellar mass with a thickened pituitary stalk. The endocrinological examination revealed panhypopituitarism and diabetes insipidus. Suspecting hypophysitis, the patient was given steroid and hormone replacement therapy. Six months later, she continued to complain of severe headaches and nausea. Computed tomography showed no significant change in the sellar mass. Subsequently, transsphenoidal surgery was performed. The pathological examination revealed granulomatous changes with multinucleated giant cells and primary granulomatous hypophysitis was diagnosed. Her headache resolved, but the pituitary functions did not improve. This is the first reported case in Korea of primary granulomatous hypophysitis with dysfunction of anterior and posterior pituitary gland, including the stalk, without optic chiasm compression.
Diabetes Insipidus ; Diabetes Insipidus, Neurogenic* ; Fatigue ; Female ; Giant Cells ; Headache ; Hormone Replacement Therapy ; Humans ; Hypopituitarism ; Korea ; Magnetic Resonance Imaging ; Middle Aged ; Nausea ; Optic Chiasm ; Pituitary Gland ; Pituitary Gland, Posterior

Primary empty sella syndrome is a phenomenon caused by cerebrospinal fluid filling resulting from the herniation of the subarachnoid space within the sella. The pituitary function of primary empty sella syndrome is usually normal. But sometimes this syndrome causes some degree of pituitary dysfunction associated with hypersecretion or deficiency of pituitary hormone. Central diabetes insipidus with primary empty sella syndrome is rarely reported. Furthermore, most of those cases are accompanied by other pituitary dysfunction. We report here on a 35-year-old female who suffered from polyuria, polydipsia since childhood. She was diagnosed with central diabetes insipidus with primary empty sella syndrome. She had no anterior pituitary dysfunction except mild hyperprolactinemia.
Adult ; Cerebrospinal Fluid ; Diabetes Insipidus, Neurogenic* ; Empty Sella Syndrome* ; Female ; Humans ; Hyperprolactinemia ; Polydipsia ; Polyuria ; Subarachnoid Space