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)

The case of a two-year-old girl with generalized histiocytosis, probably induced by phenobarbital, is reported. Symptoms, including intermittent fever, systemic lymphadenopathy, maculopapular skin eruption and hepatosplenomegaly, suggested Langerhans cell histiocytosis. Laboratory examinations revealed leukocytosis with lymphocytosis and eosinophilia and a high LDH serum level, while GOT and GPT were within normal ranges. Cytological studies of lymph node and pleural effusion specimens revealed proliferation and infiltration of Langerhans cell histiocytes with eosinophilia. No histiocyte proliferation was observed in the bone marrow or skin. The clinical manifestations shown by the patient were, however, transient, and improved spontaneously after the discontinuation of phenobarbital. The case was considered to be one of phenobarbital hypersensitivity syndrome based on clinical course and laboratory findings. The mechanism and differential diagnosis of the syndrome are discussed.
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PMID:A case of hypersensitivity syndrome resembling Langerhans cell histiocytosis during phenobarbital prophylaxis for convulsion. 129 59

The course of pregnancy is described in a 20-year-old patient who had had active histiocytosis X since infancy. After an acute onset during the first year of life, a disseminated chronic state developed at 18 months of age which persisted until the pregnancy. Long-term therapy with 6-mercaptopurine was instituted at diagnosis and was not discontinued until the 17th week of pregnancy. The course of pregnancy, delivery and puerperium was normal except for elevated LDH, altered protein electrophoresis and anemia. The newborn showed no abnormality.
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PMID:[Pregnancy and childbirth in a mother with active histiocytosis]. 387 97

To find a clinical assay for histiocytosis X (HX) diagnosis, measurements were made of both activity and isoenzyme distribution of lactate dehydrogenase (LDH; EC 1.1.1.27) from the blood cells of 6 acute phase and 9 remission patients. A significant increase in the LDH activity measured in the monocytes and lymphocytes isolated from the blood of the acute phase patients was found. The increased activity was due to an enhancement of the normal pattern of LDH isoenzymes in these cells and not to a change in isoenzyme distribution. No increase was found in monocyte LDH isoenzymes from the patients in remission.
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PMID:Lactate dehydrogenase isoenzyme patterns in blood cells from histiocytosis X children. 814 71

A 2 years old male child was admitted in Dhaka Shishu Hospital with one month history of fever, swelling and pain in joints of right leg. Hematological and microbiological investigation revealed normal except radiological findings when there were destructive lesions of affected bones and thought to be Langerhan's cell histiocytosis but did not respond to treatment. Subsequently, he was transfer to Pediatric Hematology and Oncology, Bangabandhu Sheikh Mujib Medical University (BSMMU) for proper management. On examination, the boy was mildly pale, severe bone pain, no organomegaly but few occipital group of lymphnode were palpable. He had extensive red tender swelling over the hands and legs. Hematological values showed high WBC, low platelet count and lymphoblasts. Biochemical values were high serum LDH and serum uric acid. Skeletal survey showed diffuse osteolytic lesion and osteoporosis with evidence of transverse metaphyseal radiolucent bands (leukemic line), lamellar periosteal reactions and cortical erosions widespread throughout the skeleton with subperiosteal new bone formation. Radioisotop of skeleton showed increase uptake at the site of lesions. Bone marrow aspiration findings were suggestive of ALL-L1 and cytochemistry of aspirate showed PAS positive and Sudan black negative. Immunophenotype confirmed as pre-B ALL, Then, protocol based induction had given for 4 weeks. Thereafter, a short course of intensification followed by maintenance therapy had started with significant improvement of physical, hematological and radiological findings. So, an awareness of varied clinical and radiological manifestations of childhood ALL in bone marrow and skeletal system are needed in order to establish a correct diagnosis when the presenting signs and symptoms are enigmatic. It is also important to keep in mind the possibility of extensive skeletal involvement in ALL, especially when a child present with pain, swelling of limb with walking difficulties. The curability of ALL in contrast to metastatic malignancies makes accurate diagnosis of paramount importance.
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PMID:Extensive skeletal lesions in childhood acute lymphoblastic leukemia. 1918 58

Langerhans cell histiocytosis (LCH) is a proliferative disease of histiocyte-like cells, with a wide range of clinical presentations that vary from a solitary lesion to more severe multifocal or disseminated lesions. The disease can affect any age group; however, the peak incidence rate is in infants aged between 1 and 3 years-old. Diagnosis of LCH should be based on the synthetical analysis of clinical presentations, in addition to features of imaging and histopathology. Although certain cases regress spontaneously, other patients require systemic chemotherapy together with the administration of steroids. The present study reports the case of an infant with LDH with multisystem involvement, including that of the bone, skin, orbit, spleen and lungs. The patient received chemotherapy and obtained rapid improvement in the involved systems. A total of 2.5 years after completion of the therapy, the patient still remains in follow-up and no evidence of active disease has been noted.
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PMID:Langerhans cell histiocytosis with multisystem involvement in an infant: A case report. 2613 48

Langerhans cell histiocytosis (LCH) is a rare malignancy most commonly characterized by histiocytic infiltration of bone. LCH lesions in the skull place the adjacent central nervous system (CNS) at risk for involvement, which can manifest as central diabetes insipidus (CDI) when there is infiltration of the hypothalamic-pituitary axis. We present a case of a 39-year-old female who presented with polyuria and polydipsia for 1 year and left-sided hearing loss, gait instability, and nystagmus for 5 days. She was found on laboratory evaluation to have CDI and underwent left cortical mastoidectomy for a destructive peripherally enhancing mastoid lesion seen on MRI brain. Pathology revealed CD1a and S100+ LCH and the patient was subsequently discharged to begin outpatient chemotherapy with vinblastine and prednisone. The patient's CDI was diagnostic of CNS involvement, making her LCH multisystem through the infiltration of both the skull and hypothalamic-pituitary structures. As CDI can be seen in up to 25% of single-system LDH, and up to 50% of multisystem cases, radiologic studies to evaluate for osteolytic skull lesions must be considered as part of the evaluation for LCH when CDI has been diagnosed.
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PMID:A case of multisystem Langerhans cell histiocytosis presenting as central diabetes insipidus. 3200 62