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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Children treated for Langerhans cell histiocytosis (LCH) are at risk for short and long term endocrine sequelae, but biological predictors of specific deficits are not well defined. We evaluated the frequency and progression of LCH-related endocrine deficits during long term follow-up and assessed the ability of dynamic endocrine testing to identify patients at risk for late anterior or posterior pituitary hormone dysfunction. The 17 patients (5 males and 12 females) were followed a median of 10 yr after diagnosis of single system (n = 6) or multisystem (n = 11) disease. Study evaluations, performed a median of 4.1 yr after the diagnosis, comprised pituitary hormone responses to the appropriate challenge, 7-h water deprivation test, 3% hypertonic saline infusion, and magnetic resonance imaging (MRI). The six patients with GH deficiency at the time of evaluation had a significantly lower GH response to GHRH than the other patients [median peak, 7.3 vs. 21.5 micrograms/L (P = 0.03); median area under the curve, 4.7 vs. 13.5 micrograms/L (P = 0.03)]; levels in the latter group did not differ significantly from those in 20 age- and sex-matched controls with constitutional or familial short stature. Two patients who had GH responses to GHRH of 20.6 and 23 ng/mL at 2.8 and 9.5 yr of age developed GH deficiency at 6.5 and 11.2 yr of age, respectively. The TSH response to TRH was less than 10 mU/L in three patients, two of whom later developed central hypothyroidism. ACTH and cortisol responses to CRF, and PRL responses to TRH were normal in all cases, and LH and FSH responses to GnRH were compatible with pubertal stage. Abnormalities in arginine vasopressin responses to water deprivation or hypertonic saline infusion were seen only in four patients who had preexisting diabetes insipidus (DI); one patient who later developed DI had normal findings. On standard MRI, posterior pituitary hyperintensity was absent only in the patients with DI. Pituitary stalk thickening was seen in seven patients, including three who did not have DI and had normal arginine vasopressin responses. Delayed posterior and anterior enhancement on dynamic MRI was present in two patients, both of whom later developed central hypothyroidism. Patients with single system disease had a lower 5-yr probability of LCH reactivation (41% vs. 83% for those with multisystem disease; P = 0.21) and a significantly lower risk of endocrine dysfunction (P = 0.007). In this series, dynamic evaluation of pituitary function was not a useful predictor of late endocrine sequelae, with the possible exception of the progressively decreasing TSH response to TRH. Similarly, a standard MRI was not predictive, although dynamic imaging may be informative regarding evolving pituitary hormone deficiency.
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PMID:Dynamic endocrine testing and magnetic resonance imaging in the long-term follow-up of childhood langerhans cell histiocytosis. 974 8

Pituitary-hypothalamic axis Langerhans cell histiocytosis is an uncommon entity. It is a rare disease in adults. The CT and MR study provides us the best anatomo-topographic evaluation and determine the precise size of the lesion which are necessary to the treatment. We report a case of hypothalamic involvement by Langerhans cell histiocytosis accompanied by lesions in bone affecting a 31-year-old woman. The clinical, histiotological and CT/MR findings of histiocytosis X are described in this article.
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PMID:[MRI findings in pituitary-hypothalamic axis Langerhans cell histiocytosis]. 1284 12

Central diabetes insipidus with an onset in adulthood is very rare. Unlike in children, central diabetes insipidus in adults is more frequently caused by inflammatory processes and neoplastic infiltrations that do not originate from the neuronal tissue than primary neuronal tissue tumours. Rare histiocytic neoplasias (Langerhans cell histiocytosis, xanthogranulomatosis and Erdheim-Chester disease) have a specific affinity to hypothalamus and the pituitary stalk not only in paediatric patients but also when occurring in adults. We describe 3 cases of central diabetes insipidus with an onset in adulthood. Diabetes insipidus was the first sign of Langerhans cell histiocytosis in 2 patients, and it was the first sign of Erdheim-Chester disease in one patient. MR imaging showed pathological infiltration and dilated pituitary stalks in all 3 patients. PET-CT proved useful in differential diagnosis, showing further extracranial pathological changes either on the basis of significant glucose accumulation or on the basis of CT imaging. The Langerhans cell histiocytosis in the first patient has also manifested itself as an infiltration of the perianal area with intensive accumulation of fluorodeoxyglucose (FDG) - SUV 8.6 and gingival inflammation indistinguishable from parodontosis. Histology of the perianal infiltrate confirmed Langerhans cell histiocytosis. Infiltration of the pituitary stalk disappeared from the MR image after 4 cycles of 2-chlordeoxyadenosin (5 mg/m2 5 consecutive days). The PET-CT of the 2nd patient showed only borderline accumulation of FDG in the ENT area, while simultaneously performed CT imaging showed cystic restructuring of the pulmonary parenchyma and nodulations consistent with pulmonary Langerhans cell histiocytosis. Bronchoalveolar lavage identified higher number of CD1 and S100 positive elements, consistent, once again, with pulmonary LCH also affecting pituitary stalk and ear canal. The PET-CT of the third patient showed increased activity in the long bones and ilium near the sacroiliac joint. Biopsy of the focus in the ilium confirmed foam histiocyte infiltration immunochemically corresponding to Erdheim-Chester disease. Additional imaging assessments revealed the presence of further signs of the disease. Pituitary infiltrate biopsy in this patient did not elucidate the diagnosis but resulted in complete panhypopituarism. Central diabetes insipidus in adulthood might be the first sign of so far undiagnosed extracranial disease, in our case of histiocytic neoplasias, and PET-CT has an excellent potential to detect extracranial symptoms of these conditions. Therefore, the high-risk pituitary stalk infiltrate biopsy should always be preceded by comprehensive examination aimed at identification of extracranial manifestations of the pituitary gland diseases.
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PMID:[Central diabetes insipidus in adult patients--the first sign of Langerhans cell histiocytosis and Erdheim-Chester disease. Three case studies and literature review]. 2032 85

Langerhans cell histiocytosis (LCH) is a rare granulomatous disease of unknown etiology. We retrospectively reviewed data from four patients (3 males and 1 female), mean age 33.5 years old (range: 21-40), with histopathological diagnosis of LCH. All of them presented with symptoms suggestive of endocrine involvement. The main complaint was goiter in two patients and polyuria and polydipsia in three. Before the LCH diagnosis, two patients had unevaluated symptoms of diabetes insipidus (DI) and hypogonadism. The mean time from symptoms onset to diagnosis was 6.25 years (range: 2-13). Histopathological diagnosis was established by total thyroidectomy (TT) biopsy in two patients, skin lesion biopsy in one, and pituitary stalk biopsy in the other. In the two-first patients, surgery was indicated after the fine-needle aspiration biopsy (FNAB) showed a false positive result of differentiated thyroid carcinoma and immunohistochemistry was used for diagnosis confirmation. Three cases were treated with chemotherapy; one of them had already received radiation therapy on the hypothalamic-pituitary region, developing post-radiation hypopituitarism.
Pituitary 2010 Dec
PMID:Endocrine manifestations of Langerhans cell histiocytosis diagnosed in adults. 2055 37

We present a 22-year old male patient previously treated with radiotherapy and surgery at the age of 7 for an undefined suprachiasmatic mass. Following treatment he gradually became morbidly obese and besides subsequent panhypopituitarism he achieved his target height probably due to obesity-induced severe hyperinsulinemia. At the age of 21 Langerhans' cell histiocytosis was diagnosed at the right mandible and was surgically treated. One year later he developed a further painful osteolytic hip lesion and a single zoledronate infusion eliminated all symptoms. We highlight the importance of obtaining a histological diagnosis before initiating treatment, and the distinctive course of the disease in a patient who continued to growth besides GH deficiency.
Pituitary 2012 Dec
PMID:Distinctive growth pattern in a patient with a delayed diagnosis of Langerhans' cell histiocytosis. 2127 49

In adult patients, Langerhans cell histiocytosis (LCH) manifests most frequently with one or more osteolytic lesions or, alternatively, with pulmonary involvement with nodules and cysts or with skin lesions. Infiltration ofthe central nervous system is a rather rare sign of LCH. The LCH cells have an unexplained affinity to hypothalamus and to pituitary stalk and, consequently, central diabetes insipidus is the most frequent clinical sign of brain involvement in LCH. We describe treatment of 2 adult patients with LCH in whom central diabetes insipidus was the first sign of LCH and MR confirmed pituitary stalk infiltration. The first man was diagnosed with diabetes insipidus and pituitary stalk infiltration at 33 years of age. LCH was confirmed 2 years later by histology of verrucous lesions on the skin of perianal area. The disease affected the skin and CNS. The patient was treated with 2-chlorodeoxyadenosine (5 mg/m2 s.c. for 5 consecutive days of a 28-day cycle). No pituitary infiltration was evident on an MR image after the 4th cycle. Residual perianal infiltration was irradiated. The patient has been in complete remission for 44 months following treatment completion, although vasopressin and testosterone substitution is required. The second man was also diagnosed with diabetes insipidus and pituitary stalk infiltration at 33 years of age. Pulmonary involvement was identified with high resolution CT(HRCT) and high CD1a and S-100 positive elements with bronchoalveolar lavage. This patient further had external auditory canal infiltrations causing chronic discharge from the ears. The patient was treated with 2-chlorodeoxyadenosine as above. A follow up MR after the 4th cycle showed reduction in the infiltration diameter from 5.5 to 3.0 mm. Therefore, 2-chlorodeoxyadenosine 5 mg/m2 s.c. was combined with dexamethasone 20 mg p.o. during the 5th and 6th cycle. The MR image after treatment completion showed remission of the pituitary stalk infiltrate. External auditory canal infiltration diminished as did the nodules in pulmonary parenchyma. Nevertheless, vasopressin substitution is still required. The patient has been in complete remission for 8 months from the completion of the treatment. Pituitary stalk infiltration disappeared after the treatment with 2-chlorodeoxyadenosine in 2 patients; after 4 cycles in the first and after 6 cycles (with an addition of dexamethasone during the last 2 cycles) in the second.
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PMID:[MR-documented remission of pituitary stalk infiltration in patients with Langerhans cell histiocytosis following treatment with 2-chlorodeoxyadenosine]. 2209 97

A 37-year-old woman with no remarkable medical or family history presented with papules and vesicles on an erythematous background involving the neck, sacrum, and folds (postauricular, axillary, inguinal, and under the breasts) (Figure 1). During the previous year, she was treated with local and systemic antifungals without improvement. Her history included a secondary amenorrhea, polydipsia, and polyuria (6 L/d) that started 2 years prior. Physical examination revealed chronic bilateral purulent otorrhea with thick eardrums. Histologic examination of skin biopsy revealed a highly suggestive appearance of multisystem Langerhans cell histiocytosis (LCH) with immunohistochemistry (anti-PS100 and anti-CD1a), which were positive (Figure 2A and 2B). Pituitary magnetic resonance imaging showed a thickening of the pituitary stalk in relation to a location histiocytic (Figure 3). Bone gaps were objectified on two radiographic tibial diaphyseal. Results from computed tomography (CT) scan showed a magma coelio mesenteric, axillary, and inguinal lymph nodes.
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PMID:Multisystem Langerhans Cell Histiocytosis in Adults Revealed by Skin Lesions. 2731 65

Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it is caused by a variety of conditions (genetic, congenital, inflammatory, neoplastic, traumatic) that arise mainly from the hypothalamus. The differential diagnosis between diseases presenting with polyuria and polydipsia is challenging and requires a detailed medical history, physical examination, biochemical approach, imaging studies and, in some cases, histological confirmation. Magnetic resonance imaging is the gold standard method for evaluating the sellar-suprasellar region in CDI. Pituitary stalk size at presentation is variable and can change over time, depending on the underlying condition, and other brain areas or other organs - in specific diseases - may become involved during follow up. An early diagnosis and treatment are preferable in order to avoid central nervous system damage and the risk of dissemination of germ cell tumor, or progression of Langerhans Cell Histiocytosis, and in order to start treatment of additional pituitary defects without further delay. This review focuses on current diagnostic work-up and on the role of neuroimaging in the differential diagnosis of CDI in children and adolescents. It provides an update on the best approach for diagnosis - including novel biochemical markers such as copeptin - treatment and follow up of children and adolescents with CDI; it also describes the best approach to challenging situations such as post-surgical patients, adipsic patients, patients undergoing chemotherapy and/or in critical care.
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PMID:Central diabetes insipidus in children: Diagnosis and management. 3264 70