Sclerosing cholangitis with neonatal onset

Sclerosing cholangitis is characterized by irregular narrowing of extrahepatic or intrahepatic bile ducts, and in adults is defined mainly by radiologic findings. We describe eight children with cholestasis from the first week of life, followed by early cirrhosis and portal hypertension. Histologic examination of the liver showed absence of interlobular bile ducts in the early cholestatic phase in two patients and biliary cirrhosis later in all patients. Radiologic examination by percutaneous cholecystography under ultrasound guidance, carried out at age 8 months to 9 years, disclosed abnormal intrahepatic bile ducts with rarefaction of segmental branches, stenosis, and focal dilation. The extrahepatic ducts were involved in six patients. No intestinal disease has been found in these patients.     

Congenital histiocytosis X

Congenital histiocytosis X involving multiple organs is a rare disease that causes rapid mortality in intrauterine and neonatal life. The diagnosis of histiocytosis X (Litterer-Siwe disease should be considered in a neonate with vesiculated crusting skin lesions. We present clinical, radiographic and histopathological findings in a neonate with congenital histiocytosis who died of respiratory failure due to diffuse infilteration of lungs with histiocytic cells.     

Sclerosing cholangitis associated to cryptosporidiosis in liver-transplanted children

Three children of a series of 461 pediatric liver transplant recipients developed diffuse cholangitis associated with intestinal cryptosporidium carriage. All three received immunosuppression consisting of tacrolimus and prednisone. Cryprosporidium carriage was treated with paramomycin, while immunosuppression was decreased according to graft tolerance. No other infectious pathogens were found, and no vascular problems were detected. Bile duct anastomosis was reoperated in all three, but biliary cirrhosis developed in one patient, requiring retransplantation. All three patients are alive and well, and free of intestinal parasites on follow-up. Conclusion Cryptosporidium intestinal infection may play a role in some cases of otherwise unexplained cholangiopathies in pediatric liver transplant recipients. This may lead to significant morbidity, including need for retransplantation. Received: 29 June 1999 and in revised form: 10 September 1999 / Accepted: 21 September 1999     

Colonic ulceration in histiocytosis X

Gastrointestinal symptoms in histiocytosis X are distinctly unusual. This report describes a 5-month-old infant with a prolonged history of lower gastrointestinal bleeding which was found to be caused by diffuse histiocytic infiltration of the colon. Immunopathologic and electron microscopic studies confirmed the diagnosis of histiocytosis X. The differential diagnosis of lower gastrointestinal bleeding in young children should include histiocytosis X.     

Thymic calcifications in histiocytosis X

We report a case of an infant with pulmonary histiocytosis X with punctate thymic calcifications on conventional CT without an anterior mediastinal mass.     

Prognostic factors in histiocytosis X

Evaluation of prognostic factors and therapeutic strategies in histiocytosis X is difficult because of this disease's low incidence, heterogeneity related to the multiplicity of possible localizations, unpredictable course, and incompletely elucidated pathogenesis. At the time of diagnosis, parameters with a bearing on prognosis include age, number of involved organs, presence or absence of organ dysfunction, and initial response to treatment. Chemotherapy regimens, of which the most effective are vinblastine-corticosteroids and etoposide-corticosteroids, should be used only in patients with organ dysfunction or involvement of two or more organs before two years of age or three or more organs after two years of age. Duration of treatment ranges from three to twelve months according to the quality of the response. Other treatments, including low dose cytosine, alpha-interferon, or even autologous or allogeneic bone marrow transplantation have yielded promising results that need to be confirmed in a larger number of patients.     

Radionuclide imaging in histiocytosis X

Radionuclide imaging (^99mTc bone scans,^99mTc S colloid scans,^99mTc brain scans and⁶⁷gallium scans) and bone radiographs were done in 54 children with histiocytosis X. The results are discussed, compared with the literature and indications for the different nuclear medicine studies are given.     

Thymus in untreated systemic histiocytosis X

Histology, ultrastructure, and lymphocyte subsets were evaluated in thymic tissue obtained from a child with disseminated histiocytosis X (HX) prior to therapy. Extensive medullary infiltration by typical HX cells was associated with active destruction of thymic epithelium, medullary pseudocysts, and prevalence of calcospherites, some of which were in HX cells. The presence of minimally affected Hassall bodies indicates that the thymus was probably normal prior to onset of disease. Conventional studies of immunologic function showed no deficits, but reduction of OKT6- and OKT8-labeled lymphocytes in a thymic suspension may mean that thymic processing of lymphocytes was impaired. Destruction of thymic epithelium occurs regularly in HX, but it may be an insignificant epiphenomenon resulting from the affinity of HX cells for squamous epithelium.     

Combination chemotherapy in histiocytosis X.

Twenty-five children with generalized histiocytosis X were treated with a combination of cyclophosphamide, vinblastine, and prednisone: 8 patients experienced complete response, 8 partial response, 2 imporvement, and 7 no response. Response rates for children over 1 year of age were higher than those reported for single agents. Twelve children are now off therapy with no evidence of disease for 10--50 months. Very poor response rates and high toxicity were seen in children less than 1 year of age. The two infants who eventually achieved CR did so by other therapies. Further trials in combination chemotherapy must weight possible long-term effects of such therapy against the prospect of more rapid disease control.     

Spontaneous remission in disseminated histiocytosis X

An 8 months old girl presented with biopsy-proven, disseminated histiocytosis X affecting at least two organ systems. Within one year there was spontaneous regression of the disease lasting for 10 years until today. Considering this case and others from literature the necessity of aggressive chemotherapy in selected cases is discussed.     

Myelofibrosis arising in treated histiocytosis X

Myelofibrosis, or fibrous replacement of hematopoietic bone marrow, is rarely encountered in pediatric patients. An unusual, reversible case arising in the setting of treated histiocytosis X is reported, a previously undescribed association. The clinical, pathologic, radiographic, and scintigraphic characteristics of myelofibrosis are reviewed.     

Bone marrow involvement in histiocytosis X

Twenty-eight patients with histiocytosis X (HX) who had bone marrow aspirates and/or trephine biopsies taken at diagnosis were studied. Five of the 28 patients (18%) had bone marrow specimens with clusters of benign histiocytes characteristic of histiocytosis X. Several statistically significant clinical and laboratory differences were found between those patients with positive marrows versus those with uninvolved bone marrows. Presence of HX in the bone marrow was more frequently associated with fever (P less than 0.01), splenomegaly (P less than 0.01), rash (P = 0.04), diabetes insipidus (P = 0.09), and platelet counts less than 175 X 10(9)/L(P = 0.01). Two of the five patients with bone marrow involvement died, whereas there were no deaths due to HX in the other 23 patients. From this review, it is suggested that bone marrow involvement at diagnosis may be associated with more extensive and potentially fatal disease. HX of the marrow was more easily diagnosed from trephine biopsy sections than aspiration smears.