1/767. ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome. An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear. ( info) |
| A 42-year-old woman with a 6-year history of diabetes insipidus and progressive hypersomnolence presented with visual loss. neuroimaging showed infiltration in the hypothalamus, the optic nerve, and the chiasm, as well as multiple lesions in other areas of the brain parenchyma. biopsy showed Langerhans cell histiocytosis. This is an unusual presentation of Langerhans cell histiocytosis, involving the visual pathways without manifestations outside of the central nervous system. The differential diagnosis and the magnetic resonance imaging findings will be discussed. ( info) |
3/767. Simultaneous occurrence of Hodgkin's disease, nodal Langerhans' cell histiocytosis and multiple myeloma IgA(kappa). A 35-year-old man suffered simultaneously from nodular sclerosis Hodgkin's disease (HD), Langerhans' cell histiocytosis and multiple myeloma (MM). There was no prior history of irradiation or chemotherapy, and clinically the lymphoma was confined to cervical lymph nodes. Immunohistochemically, neoplastic lymphoma cells reacted with CD15 and CD30 markers. The patient's bone marrow exhibited a diffuse infiltration by rather atypical plasma cells showing kappa immunoglobulin light-chain restriction. At 14 months after the diagnosis, after autologous bone marrow transplantation, the clinical evolution is favourable with complete remission of the diseases. This is the first time that the coexistence of these three haematological disorders has been discussed, and only the fourth documented case of simultaneous HD and MM. Speculations about the significance of this finding are discussed. ( info) |
4/767. Labyrinthine involvement in Langerhans' cell histiocytosis. BACKGROUND: Langerhans' cell histiocytosis, a rare condition caused by the proliferation of abnormal Langerhans' cells ('LCH cells') and an accompanying granulomatous infiltrate, can affect several organs including the ear. External and middle ear involvement are common with a reported incidence as high as 61%. The bony labyrinth is resistant to erosion by the granulation tissue, thereby protecting the cochlea and vestibular structures. Probably for this reason, involvement of the inner ear is rare, with few case reports in the literature. patients: We report two girls, one with bilateral and the other with unilateral mastoid involvement, in whom there was invasion of the labyrinth. The first girl had 'single system' LCH affecting only bone and developed an acute hearing loss due to invasion of the cochlea, while the second had both bone and skin involvement and labyrinthine involvement was diagnosed on imaging prior to the onset of labyrinthine symptoms. CONCLUSION: Inner ear involvement can lead to permanent deafness, which may be prevented by early institution of treatment. Threatened inner ear involvement requires urgent systemic medical therapy with steroids, possibly combined with chemotherapy. ( info) |
5/767. pulmonary embolism caused by acrylic cement: a rare complication of percutaneous vertebroplasty. A pulmonary embolus of acrylic cement was present in a 41-year-old woman with Langerhans' cell vertebral histiocytosis (LCH) after percutaneous vertebroplasty. Chest radiograph and CT confirmed pulmonary infarction and the presence of cement in the pulmonary arteries. She was treated with anticoagulants, and responded favorably. This rare complication occurred because perivertebral venous migration was not recognized during vertebroplasty. Adequate preparation of cement and biplane fluoroscopy are recommended for vertebroplasty. ( info) |
6/767. Occurrence of acute nonlymphoblastic leukemia in two girls after treatment of recurrent, disseminated Langerhans cell histiocytosis. The occurrence of Langerhans cell histiocytosis (LCH) and acute leukemia in one individual has rarely been observed. Despite few exceptions, two distinct patterns of association appear evident: acute lymphoblastic leukemia preceding LCH and LCH preceding acute nonlymphoblastic leukemia (ANLL). The latency of ANLL after the diagnosis of LCH is suggestive of a therapy-related process. This report describes two new cases in whom ANLL was diagnosed 7 years 8 months and 5 years 8 months after the start of initial treatment of disseminated recurrent LCH. Morphology showed blasts from FAB-type M4/M5 in the first patient, who died due to progression of leukemia. The second patient showed myelodysplastic syndrome (refractory anemia with excess of blasts in transformation; RAEB-t) and is now in remission from leukemia 3 years 11 months after allogeneic bone marrow transplantation. The review of a total of 26 patients with ANLL after LCH suggests that the disease has a poor prognosis and allogeneic BMT seems to be the treatment of choice. ( info) |
| Transport distraction osteogenesis was used to reconstruct the articulation of the temporomandibular joint in two patients. Patient 1 underwent a gap arthroplasty for release of a bony ankylosis. Patient 2 had degenerative joint disease after tumor resection. Both patients had painful, limited mouth opening and facial asymmetry as a result of condylar shortening. A reverse-L osteotomy was performed from the sigmoid notch to the posterior border of the mandible. An external transport distraction device was applied, and the segment was advanced superiorly, 1.0 mm per day, until contact was made with the glenoid fossa. After distraction, the bone was found to have remodeled, inducing a new cortical layer on the articular surface. Additionally, a pseudodisk was generated as a result of the transport distraction. The two patients tolerated the procedure well, returning to pain-free normal mouth opening and being able to masticate regular diets. ( info) |
8/767. Limp as unusual presentation of Langerhans' cell histiocytosis. An isolated eosinophilic granuloma involving the posterior elements of a lumbar vertebra is reported in a 3-year-old boy presenting with progressive limp. Radiological investigations revealed osteolysis of the L5 right pedicle. MRI showed a well-defined homogeneous mass with nonspecific signal intensity. An unusual feature was the paravertebral muscular location of the largest part of the tumour indicating a possible soft tissue origin. Immunohistochemical studies were typical for Langerhans' cell histiocytosis. CONCLUSION: A limp can be due to lumbar and paravertebral muscular location of Langerhans' cell histiocytosis. ( info) |
9/767. Pulmonary Langerhans' cell histiocytosis: radiologic resolution following smoking cessation. We describe two patients with histologically proven pulmonary Langerhans' cell histiocytosis in whom radiologic improvement occurred following smoking cessation. The patients had 23- and 25-pack-year smoking histories, respectively. High-resolution CT revealed multiple small nodules, located predominantly in the upper and middle lung fields. There was a close temporal relationship between smoking cessation and radiologic improvement. ( info) |
10/767. Pagetoid self-healing Langerhans cell histiocytosis in an infant. We report Langerhans cell (LC) histiocytosis in a male infant who developed numerous papular lesions on the trunk and posterior scalp soon after birth and spontaneously recovered from the disease within 7 months. Histologically S-100-positive cells were detected in the epidermis and papillary dermis, in some lesions mostly in the epidermis. Tumor cells in the epidermis were either clustered, forming nests, or scattered singly in pagetoid fashion. Electron microscopy confirmed the presence of Birbeck granules in these cells. They exhibited many interesting features usually not found in normal LCs, including mitosis, frequent apoptosis, Birbeck granules invaginated in the nucleus, autophagocytosis of Birbeck granules, and active ingestion of extracellular material through Birbeck granules attached to cell membranes. It is suggested that either a strong epidermotropism of tumor cells or a proliferation of the resident LCs of the epidermis is responsible for this intraepidermal growth pattern. Cellular necrosis through very active apoptosis and the superficial nature of the growth might have contributed to the self-healing course in this patient. ( info) |