The spleen in the Wiskott-Aldrich syndrome: histopathologic abnormalities of the white pulp correlate with the clinical phenotype of the disease.

The Wiskott-Aldrich syndrome (WAS) is a X-linked hematologic disorder characterized by thrombocytopenia, eczema, and immunodeficiency of variable severity. Reported here are the results of a morphologic, morphometric, and immunophenotypic analysis of splenic lymphoid tissue in 12 WAS patients with documented molecular defect and with different disease severity. Spleens from 29 age-matched patients with different diseases were used as controls. Paraffin-embedded tissue (from all cases) and fresh-frozen samples (from 5 WAS patients and 4 control subjects) were used to study the different white pulp compartments by classic morphologic, immunophenotyping, and image analysis techniques. Data were statistically analyzed by both parametric and nonparametric tests. Spleens from WAS patients showed a significant depletion of the total white pulp (p = 0.0008), T cell (p < 0.05), and B cell (p = 0.0002) areas and marginal zone (MZ) thickness (p < 0.0001). Among WAS patients, a negative correlation was found between the score of severity of the disease and all variables considered (Spearman's rank correlation coefficient, r = -0.79, r = -0.73, r = -0.68, and r = -0.56, respectively). In conclusion, this study shows that in WAS a general depletion of the splenic white pulp occurs, supporting the evidence that WAS is characterized by a combined immune defect. The significant reduction of the MZ may explain the inability of WAS patients to mount a response to T-independent antigens.

Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome.

We describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lymphangiectasia. The syndrome was first delineated by Urioste and co-workers [1993: Am J Med Genet 47:494-503]. These cases confirm the existence of a definite and distinct entity.

Yellow nail syndrome and bilateral cystic lung disease.

In patients with yellow nail syndrome (YNS), highly characteristic nail changes are often associated with lymphedema and respiratory disorders due to pleural effusions or bronchiectasis. We describe a 4-year-old girl with the YNS who also had cystic lesions of the lung, affecting first the left lower lobe and, after surgical resection of the involved segments, also the right lower lobe. We discuss the etiology of the pulmonary cysts and hypothesize that abnormalities in pulmonary lymphatic flow, characteristic of YNS, may have decreased lung tissue compliance and determined the unusual progression of the cystic lesions in this patient.

Chronic hepatitis C in children: the pathological and clinical spectrum.

BACKGROUND & AIMS: Apart from the high-risk groups, the pathology of chronic hepatitis C in children is not well known. The aim of this study was to investigate the morphology of chronic hepatitis C in children without any underlying systemic disease and to evaluate its relationship to clinicovirological factors. METHODS: Liver biopsy specimens from 80 children positive for antibody to hepatitis C virus were evaluated using a semiquantitative scoring system. RESULTS: Chronic hepatitis was mild in most cases but had high-grade activity in 17 children (21.2%). A significant association was found between the grade of focal necrosis and alanine transaminase levels (P < 0.003). Fibrosis was absent in 22 cases (27.5%), mild in 44 (55%), and moderate in 13 (16.2%). Only 1 patient had cirrhosis. A significant relationship was detected between fibrosis scores and (1) duration of disease (P < 0.03); (2) portal inflammation (P < 0. 002); and (3) interface hepatitis (P < 0.003). CONCLUSIONS: In otherwise healthy children, chronic hepatitis C is a morphologically mild disease in most cases. Fibrosis increases with the duration of disease, suggesting that end-stage disease may develop in young adulthood. Alanine transaminase levels correlate with intralobular focal necrosis but not with other lesions. In this respect, liver biopsy retains its importance in the management of chronic hepatitis C in children.