Rosai-Dorfman disease with renal involvement and associated autoimmune haemolytic anaemia in a 12-year-old girl: A case report.

BACKGROUND: Rosai- Dorfman Disease (RDD) is a benign condition of unknown aetiology which is characterized by non-neoplastic proliferation of histiocytes. Pathophysiology and natural history remain obscure due to the low prevalence of disease. It is known to present with nodal or extranodal involvement and occurrence in the genitourinary system could lead to dreadful complications. RDD is diagnosed by demonstrating emperipolesis on histology and supported by S100 positivity in immunohistochemistry. Treatment is tailored individually and includes expectant monitoring, steroids, surgery, chemotherapy and radiotherapy. Prognosis will be poor if there is involvement of vital organs. We report a rare case of renal Rosai-Dorfman Disease in a 12-year-old girl which also associated with cold type autoimmune haemolytic anaemia (AIHA). CASE PRESENTATION: A previously healthy, 12-year-old girl presented with low grade fever and cough over one month. On examination, she was pale, mildly icteric and had a firm mass in the left hypochondrial region. Her blood count revealed significant eosinophilia, normocytic normochromic anaemia and thrombocytosis. Further laboratory investigations revealed reticulocytosis, positive urine urobilinogen, positive direct antiglobulin test and red blood cell agglutination on blood picture suggestive of autoimmune haemolytic anaemia. Ultrasound scan of abdomen revealed paraaortic and left side retroperitoneal lymphadenopathy with left renal mass. It was further evaluated by Contrast Enhanced Computed Tomography (CECT). Biopsy was done and that concluded sinus histiocytosis with massive lymphadenopathy (SHML) with positive S100 and CD1a in immunohistochemistry. Child was treated with steroids however there was no significant response as assessed by repeat CT and has been commenced on chemotherapy. CONCLUSION: RDD is believed to be due to host immune dysregulation and precise diagnosis is imperative. It should be considered as differential diagnosis in a child presenting with massive lymphadenopathy and AIHA. Association between RDD and AIHA may possibly be explained by abnormal immune response of the host.

Efficacy of higher-dose levamisole in maintaining remission in steroid-dependant nephrotic syndrome.

OBJECTIVE: Levamisole (LEV) has been used successfully on an alternate-day regime of 2.5 mg/kg in steroid-dependant nephrotic syndrome (SDNS) to maintain remission. This pilot study was carried out between 2010 and 2015 at a single center in Sri Lanka to evaluate the efficacy of LEV prescribed at 2.5 mg/kg daily, which is double the alternate-day dose. METHODS: Sequential children with SDNS, relapsing more than twice in the preceding 12 months and previously treated with LEV and low-dose alternate-day prednisolone (0.1-0.6 mg/kg) were recruited to the study. This group received LEV (2.5 mg/kg) daily with the same dose of alternate-day prednisolone for 1 year. Urine protein excretion was recorded by parents on a daily basis, and the presence of 3+ proteinuria on 3 consecutive days was considered a relapse. Full blood counts and liver function tests were performed every 3 months to monitor for adverse effects. RESULTS: Sixty-four children were enrolled into the study; six were excluded due to prescription of other immunosuppressive drugs. Median age was 7.9 years; 33 were boys. The number of relapse episodes was 163 [mean per patient 2.8 ± standard deviation (SD) 0.8] in patients on alternate-day LEV and 77 (mean 1.3 ± SD 0.9) for those on daily LEV during the 12-month period of observation. The P value 0.000 (according to the Wilcoxon signed-rank test) was <0.001. No major adverse events were noted. CONCLUSIONS: The prescription of daily LEV is effective and safe for maintaining SDNS remission.

Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.

BACKGROUND: Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and presenting with the concurrence of bone fragility and congenital contractures of large joints. The disease usually progresses relentlessly to result in recurrent fractures, short stature, severe kyphoscoliosis, and susceptibility to recurrent respiratory tract infections. CASE PRESENTATION: The index child was a male newborn to healthy, nonconsanguineous, Sinhalese parents. The child had multiple contractures involving all large joints with pterigium formation in addition to congenital fractures involving left humerus and ulna at birth. The phenotypic features in this child were highly suggestive of Bruck syndrome. Genetic counseling was offered to the parents, although specific genetic testing could not be undertaken due to lack of resources. Bone and skin biopsy were not performed since only palliative care was possible. Over the course, he developed recurrent severe chest infections due to poor muscle tone, weak cough reflex, and pooling of secretions. Unfortunately, he succumbed at the age of 7 months following severe pneumonia. CONCLUSION: The association of arthrogryposis with osteogenesis imperfecta is extremely rare and known as Bruck syndrome. Early diagnosis during the antenatal period is helpful in genetic counseling, assessment of severity, and exploration of therapeutic options.

Pulsed Vincristine Therapy in Steroid-Resistant Nephrotic Syndrome.

Steroid-resistant nephrotic syndrome (SRNS) poses a therapeutic challenge for the paediatric nephrologist. As relentless progression to renal failure occurs with continued proteinuria, such patients will be treated with different cytotoxic medications with variable success rates and side-effects. We present here our findings on administering the anticancer drug vincristine for SRNS patients at a single centre in Sri Lanka. Methods. Between 2002 and 2007, fifty-four children presenting with steroid and cyclophosphamide resistance were treated with vincristine at 1.5 mg/m2 in weekly intravenous pulses for 8 weeks along with a tapering steroid regimen of 6 months. All patients were closely followed up for 5 years. Results. Of the 54 patients 39 were males and 15 were females (age range 3.5-11.6 years, median 6.1 years). At the end of the treatment course, 21 patients achieved complete remission while 7 had partial remission and no response was seen in 26 patients. Sustained remission at 6, 12, 24, and 60 months were 15 (27.78%), 11 (20.37%), 9 (16.67%), and 7 (12.96%), respectively. Most side-effects observed were reversible and no serious side-effects were noted during vincristine therapy. Conclusion. Although its therapeutic mechanisms in nephrotic syndrome are still not elucidated, vincristine appears to be a potent alternative that could be considered for treating SRNS.