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

An 18-year-old woman presented with visual disturbance and endocrine dysfunction (diabetes insipidus, delayed puberty, hypothyroidism, hypoadrenalism, and hyperprolactinemia). Computed tomography and enhanced cisternography showed a single hypothalamic mass, which proved at biopsy to be histiocytosis X. Further studies showed the disease to be restricted to the hypothalamus. The patient was treated with hormonal replacement therapy, but her visual acuity continued to worsen. Visual acuity improved after low-dose irradiation of the pituitary fossa and hypothalamus, which also led to disappearance of the mass. This case shows that localized hypothalamic histiocytosis X can be diagnosed and treated successfully before other systems become involved.
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PMID:Histiocytosis X of the hypothalamus. 278 48

Endocrinopathies are frequently linked to central nervous system disease, both as early effects prior to the disease diagnosis and/or late effects after the disease has been treated. In particular, tumors and infiltrative diseases of the brain and pituitary, such as craniopharyngioma, optic pathway and hypothalamic gliomas, intracranial germ cell tumor, and Langerhans cell histiocytosis, can present with abnormal endocrine manifestations that precede the development of neurological symptoms. Early endocrine effects include diabetes insipidus, growth failure, obesity, and precocious or delayed puberty. With improving prognosis and treatment of childhood brain tumors, many survivors experience late endocrine effects related to medical and surgical interventions. Chemotherapeutic agents and radiation therapy can affect the hypothalamic-pituitary axes governing growth, thyroid, gonadal, and adrenal function. In addition, obesity and metabolic alterations are frequent late manifestations. Diagnosing and treating both early and late endocrine manifestations can dramatically improve the growth, well-being, and quality of life of patients with childhood central nervous system diseases.
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PMID:Early and late endocrine effects in pediatric central nervous system diseases. 2554 81