Renal Microsporidiosis in Pediatric Bone Marrow Transplant Recipients: A Case Series.

Microsporidiosis is a rare, but emerging opportunistic infection in solid organ transplant and stem cell transplant recipients. Renal involvement in microsporidiosis is very rarely seen in these recipients. We describe two cases of pediatric renal microsporidiosis, diagnosed on renal biopsies, following bone marrow transplantation presenting as severe acute kidney injury. The first patient died, whereas the second survived due to early diagnosis based on high index of suspicion and prompt treatment with Albendazole. We believe these are the first such reported cases of renal microsporidiosis in pediatric bone marrow transplant recipients.

Cytogenetic Abnormalities in Multiple Myeloma Patients at a Tertiary Healthcare Center in India

Objective: Multiple myeloma (MM) is a clinically and genetically heterogeneous plasma cell neoplasm. The prognosis of MM patients is dependent on several factors including the patient's age, the stage of disease and genetic alterations. This study aimed to determine the frequency of common chromosomal abnormalities and their significance in MM patients referred to a tertiary healthcare center in India. Methods: Fluorescence in situ hybridization on interphase nuclei from bone marrow cells using seven MM-specific probes for recurrent aberrations was performed in a total of 215 newly diagnosed patients. Results: Chromosomal abnormalities were detected in 161 (74.9%) MM patients in this study. The most frequent aberration was trisomy(ies) involving only gain of chromosomes in 48 (22.3%) cases. A translocation involving the IGH gene alone or accompanied by trisomy(ies) or by monosomy 13/13q deletion or by both was registered in 80 (37.2%) patients. Atypical patterns such as a deletion of the IGH variable segment (IGHv) on the derivative chromosome 14 or on the native (normal) chromosome 14, biallelic deletion of IGHv, deletion of the IGH constant segment on the rearranged chromosome14 and extra fusions were noticed in 21 (9.8%) patients with an IGH rearrangement. Monosomy 13/deletion 13q was identified singly or as part of a complex karyotype in 74 patients (34.4%). Clonal heterogeneity and additional abnormalities including TP53 deletion and monosomies of chromosomes 4, 9, 14 and 16 were recorded in 18.6% and 16.3% of patients respectively. Patients with abnormalities exhibited plasmacytosis, reduced hemoglobin value and high level of ß2-microglobulin. Conclusions: A lower median age and a low frequency of IGH translocations particularly t(11;14) and chromosome 13 abnormalities suggest ethnic diversity. Further investigations on genetic alterations including IGH deletions will contribute to improved insights into the biology of myeloma disease, risk stratification and patient management.

A case of signet ring cell adenocarcinoma of the bladder with spontaneous urinary extravasation.

Primary signet ring cell adenocarcinoma (PSRCC) of the bladder is a relatively rare variant of adenocarcinoma of the bladder with poor prognosis. Also PSRCC of the bladder presenting with spontaneous urinary extravasation is very rare. We present the case of a 48-year male who presented with spontaneous urinary extravasation and was diagnosed to have PSRCC of the urinary bladder on evaluation. He was treated with radical cystectomy and adjuvant chemotherapy. This report emphasizes the need to rule out other primary sites of adenocarcinoma in the body, which may metastasize to the urinary bladder.

Perivascular epithelioid tumor of urinary bladder and vagina.

Perivascular epithelioid cell tumors are recently characterized neoplasms composed of large clear HMB-45-positive epithelioid cells arranged in an organoid pattern. The histogenesis of these neoplasms remain obscure. We report here 2 such tumors in young female patients aged 19 and 16 years involving the urinary bladder and vagina, respectively (in the absence of the tuberous sclerosis complex) . Microscopically, both tumors were composed of perivascularly arranged cells with granular eosinophilic fluffy cytoplasm, round-to-oval nuclei, and prominent nucleoli. Melanin pigmentation was present in the vaginal tumor. Immunohistochemically, both tumors strongly expressed HMB-45. They were negative for cytokeratin, vimentin, and S-100. The vaginal tumor recurred 10 months after resection and chemotherapy. The patient with the bladder tumor was lost to follow-up.

Cognitive dysfunction in cholesterol embolic disease.

A patient who developed neurological and renal complications following coronary angiogram and coronary artery bypass grafting is reported. Neurological involvement was in the form of fluctuating sensorium and a subcortical pattern of dementia. Renal failure was seen in the form of raised urea and creatinine levels. Renal biopsy revealed the cause of the renal failure to be due to cholesterol embolic disease. While the sensorium often improved following renal replacement therapy (dialysis), the dementia was poorly responsive to therapy. The patient succumbed due to progressive renal failure. Awareness of the protean manifestations and a high index of suspicion are essential for appropriate diagnosis in order to enable the clinician to accurately prognosticate in this often fatal disease.