Postauricular congenital alveolar rhabdomyosarcoma- a case report of an unusual entity

BACKGROUND: Congenital alveolar rhabdomyosarcoma is an extremely uncommon and invariably fatal tumor with the current therapy. Less than 25% of patients present with evidence of cutaneous metastasis. CASE PRESENTATION: We report a case of congenital alveolar rhabdomyosarcoma in an 18-month-old male who presented with a progressively increasing mass lesion in the left post-auricular region since birth. Radiological examination did not show any intracranial involvement of the mass lesion. Upon resecting the mass that was 10-cm in largest dimension, the gross, microscopic, and ultrastructural findings were consistent with congenital alveolar rhabdomyosarcoma. CONCLUSION: The suspicion of alveolar subtype on histological grounds and proper evaluation of this tumor by immunostain and ultrastuctural examination is necessary. In the Medline literature search, there is no report of large congenital alveolar rhabdomyosarcoma in the post-auricle region

Glomerulocystic Kidney Disease and its rare associations: an autopsy report of two unrelated cases

BACKGROUND: Glomerulocystic kidney disease is an uncommon type of cystic renal disease. It is characterized by cortical microsysts, which are represented by cystic dilatation of Bowman's spaces. CASE PRESENTATION: We describe a case of glomerulocystic disease in a neonate and another in an abortus associated with tracheo-oesophageal fistula and megacystic-megaureter syndrome. The kidney on autopsy was sponge-like and revealed presence of cysts corresponding to dilatations of Bowman's space microscopically. In these two cases, the Glomerulocystic Kidney Disease in one case corresponded to a sporadic form and, in the other, to a syndromic, non-heritable form of glomerulocystic kidney disease. CONCLUSION: The associated anomalies in Glomerulocystic Kidney disease are well described in the literature. Two more new unrelated associations are described in this article

Two birds one stone-two rare cases of adenine phosphoribosyl transferase deficiency

Complete adenine phosphoribosyl transferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. We had a 52-year-old male with Hypertension for 18 months, presented for routine evaluation and was found to have creatinine of 4.29 mg/dl. His urine analysis was done which showed no proteinuria or urinary sediments. His USG done demonstrated normal sized kidneys with mildly increased echogenicities. He underwent a renal Biopsy for etiology determination. Similarly, we had another case of a 54-year-old female with no comorbidities who was identified to have chronic kidney disease in 2018 with a baseline creatinine of 2 mg/dl came with uremic symptoms and history of NSAID intake in June 2019. Her creatinine peaked to 7.9 mg/dl. Urine analysis displayed 1+ proteinuria with no active sediments. Her USG of the kidneys showed normal kidneys with increased echogenicities. She underwent renal biopsy for etiology determination. Biopsy of case 1 showed chronic interstitial nephritis and case 2 showed acute interstitial nephritis. Both biopsies showed deposition of 2,8-dihydroxyadenine crystals. Genetic analysis of both cases showed an exon mutation in chromosome 16

When you least expect it: nephrotic syndrome following dengue fever

This case report highlights a rare occurrence of nephrotic syndrome in a previously healthy 20-year-old gentleman. The patient exhibited bilateral lower limb swelling, facial puffiness, and abdominal distension. Notably, he had been hospitalized two weeks prior with dengue fever, characterized by a transient reduction in platelet counts. Routine examinations revealed proteinuria, with creatinine at 0.97 and albumin at 2.2. A renal biopsy confirmed focal segmental glomerulosclerosis (FSGS)- NOS type. This case underscores the significance of considering renal complications in individuals with recent dengue fever, especially when presented with atypical symptoms. The scarcity of reported cases depicting nephrotic syndrome as a sequelae to dengue fever further emphasizes the uniqueness of this scenario

The role of immunohistochemistry in medullomyoblastoma – a case series highlighting divergent differentiation

<p>Abstract</p> <p>Aims</p> <p>To analyse the histo-morphology of cases of medullomyoblastoma and identifying its divergent differentiation.</p> <p>Methods</p> <p>A retrospective review of all cases reported as medulloblastoma between the period of Jan 2000 to Dec 2006 was carried out on Hematoxylin and eosin (H & E) stained slides. The cases were screened on light microscopy for primitive neuroectodermal component of a medulloblastoma accompanied by areas of "myoid" differentiation, identified on the basis of presence of strap cells (indicating a clear skeletal muscle differentiation) and/or large anaplastic cells with vescicular nuclei and moderate to abundant amount of eosinophilic cytoplasm. All these cases were subjected to a panel of immunohistochemical stains, including Desmin, GFAP, NFP, HMB45, SMA, S100, CK and EMA. Ultrastructral analysis was done on tissue obtained from paraffin blocks in 2 cases.</p> <p>Results</p> <p>Male predominance (M:F = 5:1) was noted with an incidence of five percent of all cases of medulloblastoma (6 out of 120 cases) over a period of 6 years. Primitive neuroectodermal areas were accompanied with areas of "myoid" differentiation, 5 cases showing strap cells. Two cases with epithelial and cartilaginous differentiation were seen. Three cases showed focal melanocytic differentiation, identified only on HMB45 immunostaining. Four cases showed glial differentiation. Neuronal differentiation again was very focally seen in two cases, of which one was identified only by NFP immunostain. Seventh case is included in the study, however it is not considered to calculate incidence as it occurred beyond the period of 6 years of records search.</p> <p>Conclusion</p> <p>Medullomyoblastoma is a rare childhood tumor of cerebellum. Majority of cases reveal divergent differentiation, which are identified with the help of panel of immunostains indicating multi-potential nature of primitive neuroectodermal cells.</p

Reporting trends, practices, and resource utilization in neuroendocrine tumors of the prostate gland: a survey among thirty-nine genitourinary pathologists

Background: Neuroendocrine differentiation in the prostate gland ranges from clinically insignificant neuroendocrine differentiation detected with markers in an otherwise conventional prostatic adenocarcinoma to a lethal high-grade small/large cell neuroendocrine carcinoma. The concept of neuroendocrine differentiation in prostatic adenocarcinoma has gained considerable importance due to its prognostic and therapeutic ramifications and pathologists play a pivotal role in its recognition. However, its awareness, reporting, and resource utilization practice patterns among pathologists are largely unknown. Methods: Representative examples of different spectrums of neuroendocrine differentiation along with a detailed questionnaire were shared among 39 urologic pathologists using the survey monkey software. Participants were specifically questioned about the use and awareness of the 2016 WHO classification of neuroendocrine tumors of the prostate, understanding of the clinical significance of each entity, and use of different immunohistochemical (IHC) markers. De-identified respondent data were analyzed. Results: A vast majority (90%) of the participants utilize IHC markers to confirm the diagnosis of small cell neuroendocrine carcinoma. A majority (87%) of the respondents were in agreement regarding the utilization of type of IHC markers for small cell neuroendocrine carcinoma for which 85% of the pathologists agreed that determination of the site of origin of a high-grade neuroendocrine carcinoma is not critical, as these are treated similarly. In the setting of mixed carcinomas, 62% of respondents indicated that they provide quantification and grading of the acinar component. There were varied responses regarding the prognostic implication of focal neuroendocrine cells in an otherwise conventional acinar adenocarcinoma and for Paneth cell-like differentiation. The classification of large cell neuroendocrine carcinoma was highly varied, with only 38% agreement in the illustrated case. Finally, despite the recommendation not to perform neuroendocrine markers in the absence of morphologic evidence of neuroendocrine differentiation, 62% would routinely utilize IHC in the work-up of a Gleason score 5 + 5 = 10 acinar adenocarcinoma and its differentiation from high-grade neuroendocrine carcinoma. Conclusion: There is a disparity in the practice utilization patterns among the urologic pathologists with regard to diagnosing high-grade neuroendocrine carcinoma and in understanding the clinical significance of focal neuroendocrine cells in an otherwise conventional acinar adenocarcinoma and Paneth cell-like neuroendocrine differentiation. There seems to have a trend towards overutilization of IHC to determine neuroendocrine differentiation in the absence of neuroendocrine features on morphology. The survey results suggest a need for further refinement and development of standardized guidelines for the classification and reporting of neuroendocrine differentiation in the prostate gland

An autopsy report of a rare pediatric lung tumor: Pleuropulmonary blastoma

An autopsy report of pleuropulmonary blastoma (PPB) is described in a two-and-a-half-year-old male child who died within a few days of starting chemotherapy. Autopsy revealed a large tumor almost occupying the whole of left hemithorax with widespread extension to pleura. The diagnosis was confirmed to be PPB, type III on autopsy

Renal-hepatic-pancreatic dysplasia syndrome (ivemark's syndrome)

Abstract Background Renal-Hepatic-Pancreatic dysplasia syndrome described by Ivemark in 1959 constitutes a triad pancreatic fibrosis, renal dysplasia and hepatic dysgenesis. Case presentation We describe two unrelated cases of Renal-Hepatic-Pancreatic dysplasia syndrome in stillborn babies. The characteristic microscopic features were present in both the cases. The second case illustrates the unique association lymphangiectasia with Renal-Hepatic-Pancreatic dysplasia syndrome. Both cases are unrelated and there is no history of any consanguineous marriage. Conclusion These two cases are unrelated and are rare. In the developmental research, the perinatal autopsy needs to be utilized as a major tool and an Ad hoc committee formation is required to formulate the approach towards syndromic diseases.</p

Pulmonary thromboembolism as first presentation of childhood membranous nephropathy

Nephrotic syndrome is associated with an increased risk of thromboembolism. Pulmonary thromboembolism has been described in nephrotic syndrome with or without deep vein thrombosis. In this case report, we describe an unusual first presentation of childhood membranous nephropathy with massive pulmonary thrombus with pulmonary infarction with right renal vein thrombosis