Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twelve patients, aged 16-66 years, affected by cranial diabetes insipidus either idiopathic or secondary (head injuries, histiocytosis X, metastatic tumors, pituitary or hypothalamic surgery) were studied. Diagnosis was made on the basis of both dehydration test and sensitivity to exogenous vasopressin. The relationship between plasma and urine osmolality at the end of the dehydration test was evaluated (and its usefulness for diagnostic purpose confirmed). According to this test two different conditions, namely partial and complete, of cranial diabetes insipidus were defined. All the patients underwent the following diagnostic procedures: skull x-ray, evaluation of visual fields, encephalic CT-scan. Idiopathic central diabetes insipidus incidence was found to be 33.3% of all cases, with a sharp prevalence for male sex; the median age of onset was 12.5 years. In our experience the frequency of idiopathic condition was similar to that reported in most recent literature confirming a decreasing incidence, most likely due to the use of more sophisticated diagnostic procedures.
 ...
PMID:[Vasopressin-sensitive diabetes insipidus. Case histories]. 157 92

Etiologies of a thickened stalk include inflammatory, neoplastic, and idiopathic origins, and the underlying diagnosis may remain occult. We report a patient with a thickened pituitary stalk (TPS) and papillary thyroid carcinoma (PTC) whose diagnosis remained obscure until a skin lesion appeared. The patient presented with PTC, status postthyroidectomy, and I(131) therapy. PTC molecular testing revealed BRAF mutant (V600E, GTC>GAG). She had a 5-year history of polyuria/polydipsia. Overnight dehydration study confirmed diabetes insipidus (DI). MRI revealed TPS with loss of the posterior pituitary bright spot. Evaluation showed hypogonadotropic hypogonadism and low IGF-1. Chest X-ray and ACE levels were normal. Radiographs to evaluate for extrapituitary sites of Langerhans Cell Histiocytosis (LCH) were unremarkable. Germinoma studies were negative: normal serum and CSF beta-hCG, alpha-fetoprotein, and CEA. Three years later, the patient developed vulvar labial lesions followed by inguinal region skin lesions, biopsy of which revealed LCH. Reanalysis of thyroid pathology was consistent with concurrent LCH, PTC, and Hashimoto's thyroiditis within the thyroid. This case illustrates that one must be vigilant for extrapituitary manifestations of systemic diseases to diagnose the etiology of TPS. An activating mutation of the protooncogene BRAF is a potential unifying etiology of both PTC and LCH.
...
PMID:Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus. 2765 1