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.

Cervical strongyloidiasis in an immunocompetent patient: A clinical surprise.

A 32-year-old lady came for a routine gynecological check up. Her cervical cytologic smear was reported as low grade squamous intraepithelial lesion. As a part of basic routine investigation, cervical punch biopsy was done. Astonishingly it revealed multiple rhabditiform larvae of Strongyloides stercoralis. These were curved thick with pointed end and a short buccal cavity. She did not have any history of immunosuppression including steroid therapy and was otherwise normal. Extensive review of the literature on parasites encountered in cervix yielded few case reports on strongyloides in cytologic smears, but failed to reveal any report till date on S. stercoralis found in histopathology section. Our case is probably the fi rst in the world and the fi rst reported from India to the best of our knowledge. We describe this case of strongyloidiasis of cervix with review of the literature on various parasites encountered in the cervix because of its rarity and also to keep this parasitic infestation as a differential diagnosis of cervical lesions.

Risk factors, organ weight deviation and associated anomalies in neural tube defects: A prospective fetal and perinatal autopsy series.

Introduction: Neural tube defects (NTD) are a group of serious birth defects occurring due to defective closure of neural tube during embryonic development. It comprises of anencephaly, encephalocele and spina bifi da. We conducted this prospective fetal autopsy series to study the rate and distribution of NTD, analyze the reproductive factors and risk factors, note any associated anomalies and evaluate the organ weights and their deviation from normal. Materials and Methods: This was a prospective study done over a period of 6 years from August, 2007 to July, 2013. All cases of NTDs delivered as abortion, still born and live born were included. The reproductive and risk factors like age, parity, multiple births, previous miscarriage, obesity, diabetes mellitus, socioeconomic status and use of folic acid during pregnancy were collected. Autopsy was performed according to Virchow’s technique. Detail external and internal examination were carried out to detect any associated anomalies. Gross and microscopic examination of organs were done. Results: Out of 210 cases of fetal and perinatal autopsy done, 72 (34.28%) had NTD constituting 49 cases of anencephaly, 16 spina bifi da and 7 cases of encephalocele. The mothers in these cases predominantly were within 25-29 years (P = 0.02) and primy (P = 0.01). Female sex was more commonly affected than males (M:F = 25:47, P = 0.0005) There was no history of folate use in majority of cases. Organ weight deviations were >2 standard deviation low in most of the cases. Most common associated anomalies were adrenal hypoplasia and thymic hyperplasia. Conclusion: The authors have made an attempt to study NTD cases in respect to maternal reproductive and risk factors and their association with NTD along with the organ weight deviation and associated anomalies. This so far in our knowledge is an innovative study which was not found in literature even after extensive search.

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.

Cytodiagnosis of angiosarcoma of breast.

A 24-year-old female presented with swelling in the left breast for one-and-a-half years associated with pain for last 4 months. During this period, she was operated twice and once again there was local recurrence, the biopsy was interpreted as benign vascular lesion. The case was diagnosed by preoperative cytology as angiosarcoma of breast, after which, she underwent modified radical mastectomy. Angiosarcoma of breast is uncommon with extremely bad prognosis. Familiarity with the clinical and pathologic features is critical in avoiding underdiagnosis and delayed treatment.