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

Report of a case of histiocytosis X with adult onset, widespread skin lesions and rare central nervous system involvement resulting in dizziness and ataxia. On autopsy histiocytosis X infiltrates in the central nervous system were demonstrated with granuloma formation in the temporal lobe and nucleus dentatus of the cerebellum.
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PMID:Histiocytosis X in adult with skin and uncommon central nervous system involvement. 30 3

A 53-year-old man developed spastic ataxia associated with diabetes insipidus. The patient experienced frequent attacks of stiffness and numbness of the four limbs accompanied by difficulty of speech. During an eight years' follow-up a progressive deterioration of the motor function was observed but no extracerebral manifestations were noticed. The association of spastic ataxia is generally considered as diagnostic of histiocytosis X. In the present case, however, multiple sclerosis seems a more likely diagnosis in view of the late onset and the highly characteristic brain stem seizures.
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PMID:Diabetes insipidus in a patient with suspected multiple sclerosis. 238 1

The ability to define subpopulations of immunologically competent lymphocytes has permitted an enhanced understanding of the interaction between functionally distinct components of the immune system. T cells can provide help in antibody formation or they may suppress antibody production. Abnormal immunoregulatory mechanisms have been demonstrated in the hyperimmunoglobulin E-recurrent infection syndrome. This disorder is associated with a marked elevation of IgE and specific elevations of IgE antibodies directed toward staphylococcal antigens. Abnormal T cell regulation of immune responses has been demonstrated. Graft-versus-host disease (GVHD) occurs in an immunodeficient patient who has received an infusion of immunocompetent cells. The diagnosis of graft-versus-host (GVH) reaction may be complicated by the protean manifestations of the disorder. The acute form, consisting of a maculopapular rash, fever, and diarrhea, may be confused with acute infection or drug reaction. Chronic GVHD has been incorrectly diagnosed as histiocytosis X, acrodermatitis enteropathica, or scleroderma. Utilizing chromosome markers and/or identification of histocompatibility antigens, the presence of circulating lymphocytes from donor immunocompetent cells (blood transfusion, maternal source) can be documented. The development of sensitive technics for identifying cells can establish a precise diagnosis. Certain immunodeficiency disorders can be identified by biochemical means. Biotin-dependent multiple carboxylase enzyme deficiency is associated with a chronic dermatitis, alopecia, ataxia, and secondary infection of the skin with Candida. The disorder responds promptly to the administration of biotin with correction of dermatologic, neurologic, and immunologic abnormalities.
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PMID:New insight into the causes of immunodeficiency disorders. 638 1

Langerhans' cell histiocytosis is a disease of the dendritic histiocytes with a wide variety of clinical manifestations. This report describes a boy with Langerhans' cell histiocytosis who presented with primarily neurologic and endocrinologic findings, without pain. The diagnosis of Langerhans' cell histiocytosis was not made until 10 years after symptom onset. The pathology database at Mayo Clinic was searched for cases of Langerhans' cell histiocytosis between 1985 and 1999 under 19 years of age (65 children), and information regarding clinical presentation was abstracted. Database review found a range of 1 day to 156 weeks (mean 13.8 weeks) from symptom onset to diagnosis. No other patients with primarily neurologic symptoms were found. The diagnosis of Langerhans' cell histiocytosis was made significantly sooner after onset if pain was present (chi-square = 19.1, P < .001, two-tailed, phi coefficient 0.54). Our findings indicate that neurologic manifestations of Langerhans' cell histiocytosis are rare, and the combination of diabetes insipidus, ataxia, skin rash, or osseous pain should alert the clinician to the possibility of Langerhans' cell histiocytosis and avoid delayed diagnosis.
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PMID:Delayed diagnosis of pediatric Langerhans' cell histiocytosis: case report and retrospective review of pediatric cases seen at Mayo Clinic. 1145 55

The prognosis of patients with Langerhans cell histiocytosis (LCH) involving the central nervous system (CNS) is generally poor, despite reports of clinical responses to chemotherapy, surgery, and radiation. We report on a patient with a 20-year history of relapsing multisystem LCH who developed progressive neuropsychiatric symptoms, including diplopia, ataxia, and mental deterioration. There was a regression of lesions in the brain stem and cerebellum following chemotherapy with cladribine (2-CdA) as evidenced by positron emission tomography (PET) scans. In conclusion, our experience is encouraging for the use of cladribine in CNS LCH. PET may be a useful modality for the monitoring of CNS disease activity in LCH and provides additional information in comparison with NMR imaging.
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PMID:Langerhans cell histiocytosis with central nervous system involvement: follow-up by FDG-PET during treatment with cladribine. 1548 Oct 71

The pathogenetic mechanisms of the central nervous system (CNS) problems associated with Langerhans cell histiocytosis (LCH) are not well established. Effective treatment strategies for these CNS complications are not yet available, while diabetes insipidus, also associated with LCH, can be managed effectively. Three Japanese boys with LCH who developed cerebellar ataxia were evaluated. Similar pediatric cases from the literature are also discussed. All three patients initially developed multifocal LCH lesions during early childhood (age <3 years) that responded well to chemotherapy; however, two of the three patients later developed diabetes insipidus. Ataxia, associated with mild developmental delay, was noted in the patients between the ages of 4 to 8 years. Analysis of these three cases, along with previously reported cases, indicates that the median age of onset of LCH was 2.5 (range 0.1-6.5) years and the median age of onset of cerebellar lesions/ataxia was 7 (range 3.5-16.5) years. Although the incidence of cerebellar LCH involvement is low, delayed onset of CNS disease must be monitored during follow-up care of pediatric LCH patients. Brain magnetic resonance imaging is strongly recommended for early detection of cerebellar lesions, but it remains to be determined whether there are any therapeutic measures to prevent exacerbation of CNS disease.
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PMID:Cerebellar ataxia in pediatric patients with Langerhans cell histiocytosis. 1554 8

Central nervous system (CNS) involvement in Langerhans' cell histiocytosis (LCH) has been described as a progressive neurological disorder marked by motor and cognitive decline. Detailed analysis of ocular motor abnormalities is lacking. We report on a 60-year-old male with histologically confirmed LCH who developed oscillopsia and gait ataxia over a 1-year period. Eye movements recorded with infrared oculography revealed a high rate of square-wave jerks (SWJ) with frequencies of 41 min(-1) on average and amplitudes between 1 degrees and 7 degrees , as well as marked impairment of smooth tracking of sinusoidally moving targets. Furthermore, static posturography disclosed increased body sway, with an abnormally high sway path. The initial brain MRI was unremarkable. Due to the presumed cerebellar dysfunction we performed a second MRI 1 year later that disclosed deep cerebellar lesions compatible with LCH relapse within the CNS. The abnormal high SWJ rate and the impaired smooth pursuit performance correctly heralded later involvement of the cerebellum anticipating lesion appearance in the MRI.
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PMID:Square-wave jerks and smooth pursuit impairment as subtle early signs of brain involvement in Langerhans' cell histiocytosis. 1807 8

A 60-year-old man with progressive gait ataxia and mild pyramidal signs showed at MRI a pontine lesion with post-contrast enhancement in the left middle cerebellar peduncle. Diagnosis of Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, was suggested, further supported by a previously diagnosed retroperitoneal fibrosis. X-ray films demonstrated characteristic bilateral and symmetric osteosclerosis of the long bones of the lower limbs, which at radionuclide studies exhibited a marked increase in technetium-99 uptake. A cerebral 18FDG-PET showed a relevant pontine uptake of the tracer. Re-evaluation of a past retroperitoneal biopsy showed an intense CD68+, CD1a-, and S100- infiltrate of histiocytes with foamy cytoplasm, thus confirming the diagnosis. ECD should be regarded as a rare cause of adult-onset sporadic ataxia, especially when pontine lesions and extraneurological manifestations are present.
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PMID:Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: a case of Erdheim-Chester disease. 1881 Jun 2

The second most frequent central nervous system involvement pattern in Langerhans cell histiocytosis (LCH) is a rare condition documented in a number of reports called "neurodegenerative LCH" (ND-LCH). Magnetic resonance images confirming the presence of the disease usually demonstrate striking symmetric bilateral hyperintensities predominantly in the cerebellum, basal ganglia, pons, and/or cerebral white matter. The authors here describe for the first time in the literature a patient with ND-LCH and concomitant hydrocephalus initially treated using endoscopic third ventriculostomy (ETV). This 9-year-old boy, who had undergone chemotherapy for skin and lung LCH without central nervous system involvement at the age of 10 months, presented with acute ataxia, headaches, and paraparesis and a 1-year history of gradually increasing clumsiness. Magnetic resonance images showed obstructive hydrocephalus at the level of the aqueduct of Sylvius and signs of ND-LCH. After registering high intracranial pressure (ICP) spikes with an intraparenchymal pressure monitor, an ETV was performed. A second ETV was required months later because of ostomy occlusion, and finally a ventriculoperitoneal shunt was placed because of ostomy reocclusion. Endoscopic third ventriculostomy was initially considered the treatment of choice to divert cerebrospinal fluid without leaving a ventriculoperitoneal shunt and to obtain biopsy specimens from the periinfundibular recess area. The third ventriculostomy occluded twice, and an endoscopic aqueduct fenestration was unsuccessful. The authors hypothesized that an inflammatory process related to late ND disease was responsible for the occlusions. Biopsy specimens from the infundibular recess and fornix column did not show histopathogical abnormalities. Increased ICP symptoms resolved with cerebrospinal fluid diversion. This case is the first instance of ND-LCH with hydrocephalus reported in the literature to date. Shunt placement rather than ETV seems to be the favorable choice in relieving elevated ICP.
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PMID:Failure to treat obstructive hydrocephalus with endoscopic third ventriculostomy in a patient with neurodegenerative Langerhans cell histiocytosis. 1897 98

Diabetes insipidus (DI) is rare in childhood and has a wide-ranging aetiology including the involvement of uncontrolled proliferation of dendritic cells in the hypothalamic-pituitary axis, characteristic of Langerhans cell histiocytosis (LCH). DI may manifest as a sequela of multisystem LCH disease involving skin, bone, liver, spleen and lymph nodes. In very rare cases patients diagnosed with LCH exhibit neurodegenerative changes, such as severe ataxia, tremor, dysarthria and intellectual impairment. We report a 2 1/2-year-old boy who presented initially with apparent idiopathic DI, developed anterior pituitary hormone deficiency and progressive neurological deterioration secondary to neurodegenerative LCH.
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PMID:From idiopathic diabetes insipidus to neurodegenerative Langerhans cell histiocytosis--an unusual presentation and progression of disease. 2214 82


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