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Urorectal septum malformation sequence (URSMS) is an uncommon disease characterized by a failure of the anorectal septum to divide the cloaca and fuse with the cloacal membrane. Complete URSMS is usually lethal in newborn due to severe renal dysfunction and pulmonary hypoplasia. Partial URSMS is compatible with life with a single perineal opening draining a common cloaca with an imperforate anus which amenable to surgical management. Antenatal diagnosis of URSMS is challenging because of multisystem, complex abnormalities involving gastrointestinal, urogenital tract, cardiovascular, and musculoskeletal systems. In this case report, we describe a 15-week male fetus with partial URSMS having a spectrum of multisystem structural anomalies associated with fetal neuroblastoma in retroperitoneal location and adrenal neuroblastoma in situ.

World Health Organization cytopathology reporting system systems have proposed for the pancreatobiliary tract, lung, lymph node, and soft tissue aligned with the updates in the World Health Organization classification of Tumor series. Among them, the pancreatobiliary tract and lung specimen reporting system have been published recently and are now a 7-tier and 5-tier category system, respectively, without any subcategorization. World Health Organization reporting systems also encourage the application of ancillary diagnostic tests like cell block preparation, immunocytochemistry, and rapid on-site evaluation for better categorization of specimens and further management, especially in indeterminate (atypical and suspicious for malignancy) and malignant cytology categories. In this brief review, we aim to provide a brief outline of both the systems and their clinical risk-based management strategies.

Paraffin immunofluorescence is a well established “salvage” technique in renal pathology when representative glomeruli are not found in the fresh frozen tissue sent for routine direct immunofluorescence studies. A step of enzymatic digestion of the formalin-fixed paraffin-embedded biopsy exposes the antigenic immune complexes and allows staining with fluorochrome-tagged antibodies. We explored the utility of the technique of paraffin immunofluorescence outside the kidney in certain specific scenarios including extra renal amyloid and duodenal macroglobulinemia.

Mycobacterium tuberculosis(MTB)-related secondary immunoglobulin A (IgA) nephropathy is reported in a 72-year-old male patient. The patient was diagnosed to have MTB infection of the kidney and genitourinary tract which was diagnosed by the demonstration of the organism by GeneXpert Ultra and culture. Concurrent kidney biopsy showed IgA nephropathy. The patient responded to urethral double-J stenting and four-drug antituberculous therapy with improvement of kidney function and resolution of MTB. IgA nephropathy can present as primary glomerulonephritis or secondary to MTB infection.

Lethal restrictive dermopathy is genodermatoses associated with lamin protein defects resulting in connective tissue abnormalities of skin, musculoskeletal, and adipose tissue. We report one such case with a mutation in the ZMPSTE24gene which is involved in lamin protein synthesis, resulting in fetal akinesia or hypokinesia deformation sequence. Early recognition in the perinatal period of distinctive clinical and skin histological features followed by molecular diagnosis enabled genetic counseling for the affected family.