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)

A case of complete rightward conjugate gaze paralysis, with electro-oculographic recordings, is reported. The only additional feature on clinical examination was a right infranuclear facial paresis. Radiographs of the chest showed multiple infiltrates in both lung fields; lung biopsy with ultrastructural study led to the diagnosis of histiocytosis X. A CT scan showed a single small tumour-like lesion, hyperdense and clearly defined, lying centrally in the fourth ventricle with a small ventral extension located just to the right of the midline. With appropriate treatment all the clinical signs rapidly subsided, together with the disappearance of the right ventral extension of the lesion visible on the CT scan. The clinical and CT scan data suggested that the initial parenchymatous damage almost exclusively involved the right abducens nucleus, a structure which is very rarely affected in an isolated manner. Both main clinical features of the abducens nucleus syndrome which distinguish it from the recently described paramedian pontine reticular formation syndrome were present, namely absence of all ipsilateral conjugate movements and persistence of ipsilaterally directed saccades in the contralateral hemifield of movement. Furthermore, differences between peak velocities of both eyes in oculocephalic movements suggested that a pathway analogous, at least functionally, to the ascending tract of Deiters described in the cat and in the monkey may exist in man. Lastly, some recent clinical data concerning this unusual cause of CNS damage are briefly reviewed.
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PMID:Isolated abducens nucleus damage due to histiocytosis X. Electro-oculographic analysis and physiological deductions. 633 42

The authors experienced a case of histiocytosis X with a large intracranial mass resulting in a convulsive seizure. The patient showed left exophthalmos and a skin rash one year and two months after birth. Histiocytosis X was diagnosed from a skin biopsy, and predonine, endoxan and vincristine were administered. The rash disappeared, but the exophthalmos remained. At the age of two years and nine months, punched-out lesions appeared in the skull and 4,000 rads of radiation was applied. Thereafter, the exopthalmos persisted but there was no particular problem in the course. However, a convulsive seizure with fever suddenly appeared at nine years and ten months of age and the patient was hospitalized. At the time of admission, the general condition was good and there were no abnormalities in neurological tests. In neuroradiological examinations, a calcified and poorly vascularized mass 8 cm in maximum diameter was found to occupy the left middle cranial fossa. Chondrosarcoma was strongly suspected from these findings, but there was also symmetrical thickening of bone cortex in the peripheries of the long bones of the extremeties which appeared to be the recovery process from bone destruction caused by histiocytosis X. Therefore, the formation of an intracranial mass by histiocytosis X was diagnosed and surgery was performed. When left osteoplastic fronto-temporal craniotomy was performed, the mass was found to be raising the temporal lobe and it could be easily separated from the surrounding tissue. However, these was firm adherence to dura mater of the middle cranial fossa (especially that of the superior orbital fissure). Histologically, there were many cells with small nuclei, no polymorphism, abundant and clear cytoplasm which were darkly stained and slightly atypic. These findings matched those for histiocytosis X. Cases of histiocytosis X rarely show symptoms of the central nervous system or infiltration of the central nervous system. Only 31 such cases were seen in the literature investigated by the authors. Neurological symptoms include pyramidal symptoms such as hemiparesis and impairment of the cranial nerves, particularly paresis of the optic, trigeminal, facial and acoustic nerves. Convulsive seizures were seen in only five cases including the one reported here. It is also rare for intracranial masses to be formed in cases of histiocytosis X and only six cases, including the authors', have been found with masses of a maximum diameter of more than 5 cm.
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PMID:[Case of histiocytosis X with a large intracranial mass]. 660 36

We report the case of an infant who presented with isolated cutaneous manifestations of Langerhans cell histiocytosis before the evolution of systemic features. In the transition period, at 9 months of age, nail unit changes became prominent, and persisted throughout the duration of systemic treatment. A change in clinical features coincided with a course of systemic gamma-interferon, which was given because immune paresis was suspected. Nail unit changes are rare in Langerhans cell histiocytosis, and this case illustrates the range of findings, including paronychia, nail fold destruction, onycholysis with subungual expansion, and nail plate loss. The significance of these changes as a prognostic indicator is controversial.
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PMID:Nail features in Langerhans cell histiocytosis. 818 23

We present a 66-year-old man who had maculopapular pigmented lesions on the skin of the head, neck and trunk suggesting generalized eruptive histiocytoma (GEH). These lesions had a yellowish centre in a target-like pattern that has not been previously described. The patient suffered from diplopia and had a severe sensorimotor polyneuropathy causing progressive paresis of the limbs. The explorations performed disclosed the presence of specific xanthomatous infiltrates in the skin, lungs, respiratory tract, peripheral nerves and meninges, suggesting xanthoma disseminatum (XD) or juvenile xanthogranuloma. Multiple osteolytic lesions of large bones were also found. The infiltrate was CD68, MAC 387 and factor XIIIa positive and S-100 and CD1 negative. Some cells contained worm-like bodies visible by electron microscopy. Our patient presented clinical and immunohistochemical findings suggestive of GEH, juvenile xanthogranuloma or XD, supporting the idea of a wide spectrum of non-Langerhans cell histiocytosis. These specific target-like xanthomatous lesions seem to be unique for this new variant of XD.
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PMID:Systemic xanthohistiocytoma: a variant of xanthoma disseminatum? 958 Jan 48