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)

Of 76 children with histiocytosis X 18 had orbital involvement, and four developed additional neuro-ophthalmic complications. No instance of intraocular involvement was detected. Among those patients with ophthalmic involvement the main problems were bilateral or unilateral proptosis, ptosis, papilloedema, optic atrophy, and seventh nerve palsy. Only one patient developed a severe visual defect. Management of the ophthalmological complications depends not only on the extent of the orbital disease but also on the degree of systemic involvement. Overall management by a paediatric oncologist is mandatory.
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PMID:Histiocytosis X: an ophthalmological review. 387 Nov 58

The ophthalmological changes in two patients with Erdheim-Chester disease are described. These consist of exophthalmos, ophthalmoplegia, xanthelasma, optic disc swelling, blindness due to optic atrophy, retinal striae, and bilateral enhancing orbital masses on CT scan. The clinical and histopathologic findings of Erdheim-Chester disease are reviewed and the manifestations in two patients with orbital change are presented. This is believed to be the first report describing the ophthalmological manifestations of Erdheim-Chester disease. Our observations support the view that Erdheim-Chester disease is unrelated to the histiocytosis X group.
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PMID:Orbital manifestations of Erdheim-Chester disease. 667 81

We present 23 cases of Langerhans cell histiocytosis with central nervous system (CNS) involvement. The major complaints were a mass on the cranial vault in fifteen (65%), visual disturbance in four (16%), polyurea-polydipsia in three (13%), and progressive weakness in all extremities in one patient (4%). Neurological examination revealed no abnormality in sixteen patients (70%), cranial nerve palsy, visual field defect and optic atrophy in six (26%) and paraparesis in one (4%). Tumoral mass was found to be located on the cranial vault (65%), in the suprasellar region (21%) and in the spinal column (8%). The cranium and spinal column were both involved in one patient. All patients underwent surgery; craniectomy with grossly total tumor excision plus cranioplasty (65%), craniotomy with subtotal tumor excision (26%), and vertebrectomy with grafting (13%) were performed. The clinical, radiological and histopathological features, as well as therapeutical considerations are discussed and the pertinent literature is reviewed.
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PMID:CNS involvement of Langerhans cell histiocytosis. Report of 23 surgically treated cases. 900 88

A 9-year-old boy presented with multiple hyperpigmented papules over flexors with polyuria, polydipsia and progressive loss of vision. Histopathology of papule suggested a diagnosis of non-Langerhans cell histiocytosis and systemic evaluation showed central diabetes insipidus and optic atrophy. With a diagnosis of xanthoma disseminatum with significant neurological involvement, he received cladribine therapy and showed significant improvement in both cutaneous and nervous system lesions.
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PMID:Xanthoma disseminatum with neurological involvement and optic atrophy: improvement with cladribine. 3111 72