Demographic Factors, Autopsy Findings and Syndrome Diagnosis in Congenital Anomalies with Imperforate Anus

Introduction: Imperforate anus is a relatively rare birth defectin which rectum is malformed. Cases of isolate imperforateanus exist, but most commonly, this condition is found as apart of syndromes and congenital anomalies. Therefore, weconducted a prospective fetal autopsy study to know theassociation of imperforate anus in congenital anomalies,analyse the demographic factors and correctly diagnose thesyndromes.Materials and Methods: Perinatal deaths with congenitalanomalies over a period of 1 year at our institute wereincluded in the study. Standard protocol for autopsy wasfollowed in each case. External examination andanthropometric measurements were carried out. Autopsy wasconducted according to Virchow’s technique by giving amodified “Y” shaped incision starting from below the ears tosymphysis pubis encircling umbilicus on the left side. Boththorax and abdomen were opened. Internal examinationincluding viscera was done and samples were collected forhistopathological examination. Results were noted andanalysed.Results: Out of the 57cases with congenital anomalies, 9cases were found to be associated with imperforate anuswhich included VACTERL anomaly with Prune Belly syndrome,Edward’s syndrome, Fraser syndrome, OEIS complex (2cases), Ellis-Van-Creveld syndrome, TRAP baby andGastroschisis (2 cases).Conclusion: Autopsy has an important role in the diagnosis ofsyndromes and associations with imperforate anus. Our studyalso pointed at the contribution of demographic and maternalrisk factors towards these syndromes.

Diagnosis of Multifocal Extranodal Rosai Dorfman Disease by Fine Needle Aspiration Cytology.

Rosai-Dorfman Disease (RDD) or sinus histiocytosis with massive lymhadenopathy is a rare, nonneoplastic proliferative disorder of the cells of macrophage-histiocyte family having a self limiting course. Though it affects lymphnodes commonly, it can also involve many extranodal sites. These cases can often be misdiagnosed as lymphoma. Therefore, one has to be very careful not to interpret it as lymphoma or other causes of histiocytosis because of the difference in treatment protocol. Fine needle aspiration cytology (FNAC) is a simple, fairly accurate diagnostic tool in the evaluation of such lesions. Although large numbers of RDD cases have been reported, review of the literature has revealed very few cases diagnosed by FNAC. Here, we report a case of RDD presenting with massive bilateral cervical and submandibular lymphadenopathy along with unilateral orbital involvement, diagnosed by FNA cytology, which was subsequently confirmed by excisional biopsy and immunohistochemistry.