Gastric MALT lymphoma presenting as Waldenström's macroglobulinemia without bone marrow involvement

We report a case of gastric mucosa-associated lymphoid tissue (MALT) lymphoma with macroglobulinemia in a 59-year-old man who presented with melena. A computed tomography scan of the abdomen showed irregular thickening of the wall of the stomach, and endoscopic examination disclosed enlarged and inflammatory folds of the fundus. Histopathologic examination of gastric samples showed mucosal infiltration by small lymphocytes, which were positive for CD20 and negative for CD10 and CD23, confirming the diagnosis of gastric MALT lymphoma. Serum electrophoresis detected a monoclonal peak and immunoelectrophoresis revealed an immunoglobulin M kappa component. Bone marrow aspirate and biopsy results were normal. The patient received chemotherapy. After treatment, he was in complete remission, and the serum monoclonal component had disappeared. Our observation is uncommon because of important macroglobulinemia occurring in gastric MALT lymphoma without bone marrow involvement.     

Exaggerated adrenarche in a cohort of Scottish children: clinical features and biochemistry

Objective To investigate the reported association between exaggerated adrenarche (EA) and reduced foetal growth and to identify possible risk factors for future morbidity in Scottish children with clinical features of EA. Design Three‐year prospective study. Measurements Auxology, blood pressure (BP), biochemical analysis of blood and urine, pelvic ultrasound in girls. Results Fifty‐two patients were recruited of whom one girl had nonclassical congenital adrenal hyperplasia (17‐OHP 17 nmol/l) and one had insufficient blood for analysis. The final cohort comprised 42 girls of mean (SD) age 7·7 (0·99) and eight boys of 8·8 (0·67) years. Mean (SD) birth weight was 3·27 (0·49) and 3·10 (0·76) kg in girls and boys respectively. Height/weight SDS were 1·13/1·69 in girls and 1·69/1·88 in boys. Mean systolic/diastolic BP was 107·8/60·4 (50th–75th centile) in girls and 115·5/63·9 (75th–91st centile) in boys. Uterine and ovarian development was prepubertal. Median serum dehydroepiandrosterone sulphate (DHEAS) was 2·1 and 4·1 μmol/l, androstenedione 3·1 and 3·8 nmol/l in girls and boys respectively, with DHEAS within the reference range/undetectable in 18/2 and androstenedione in 12/6 patients. Fasting insulin was 9·0 and 15·0 mU/l in girls and boys respectively, with concomitant low normal SHBG. Anti‐Mullerian hormone (AMH) was 15·7 pmol/l in 27 girls, compared with 5·0 pmol/l in normal girls aged 5–8 years. Conclusions Our Scottish EA cohort showed female predominance, no evidence of reduced foetal growth, a tendency to overweight with commensurate mild hyperinsulinaemia and modest elevation of serum androgens in some patients. We have found raised AMH levels in the girls, indicating advanced ovarian follicular development.     

Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure.

Five boys with familial cytomegalic adrenocortical hypoplasia have been followed up for an average of 19 years. Despite treatment with replacement corticosteroids, all 5 failed to show a spontaneous onset of puberty and, when assessed at ages 13 to 19 years, all had both sexual infantilism and skeletal immaturity. Hypogonadism was confirmed by low levels of plasma testosterone, and pituitary reserve of gonadotrophin was shown to be inadequate by testing with gonadotrophin-releasing hormone. Two boys, both with adequate testosterone output on human chorionic gonadotrophin stimulation, were given gonadotrophin therapy, whereas the other 3 were treated with parenterally administered testosterone. With treatment, all 5 patients showed advances in pubertal staging. Although the mechanism of the hypogonadotropism remains unclear, the association of hypogonadotrophic hypogonadism with familial cytomegalic adrenocortical hypoplasia appears to be a constant one and may be considered as a treatable inherited syndrome of pubertal failure.     

Thrombocytopenia in sarcoidosis

BACKGROUND: Haematological manifestations in sarcoidosis are uncommon. The prevalence of thrombocytopenia in sarcoidosis is not well assessed. AIM: To describe the main characteristics and outcome of sarcoidosis associated with thrombocytopenia. METHODS: We described 2 personal cases and a complete record of all reports of thrombocytopenia in sarcoidosis was persuaded through a medline multi language computer search from 1972 until now. RESULTS: Cases reports: In the first observation the clinical course was similar to immune thrombocytopenic purpura. Steroids were efficient. In the second, we have reported the first used of Rituximab in thrombocytopenia in sarcoidosis with a partial success. Review of the literature: We identified three main physiopathological mechanisms among the 31 cases collected. Hypersplenism or splenomegaly was found in ten cases, granulomas in bone marrow were found in only four. Auto-immune thrombocytopenic purpura was suspected in the other cases. 23 patients had been treated with steroids, which proved effective in 21 cases (in association with intravenous immunoglobulin(IV-ig) or anti-D. Among the five cases for which steroids were non efficient, subsequent splenectomy allowed normalization of platelets count. Splenectomy was performed in seven cases, as a first intention treatment for five patients, and successful in four. One patient died of massive haemorrhage during the surgery. Among the 5 patients treated with IV-Ig, 4 had a complete response. CONCLUSION: Different physiopathological mechanisms are responsible of thrombocytopenia in sarcoidosis. Granulomas in bone marrow or hypersplenism may be involved. Immune thrombocytopenic purpura must be suspected in all other cases. Steroids remain the most effective treatment, and must be proposed in first intention.