Extralobar Pulmonary Sequestration in Adrenal Mimicking Neuroblastoma: A Case Report.

Background: Extralobar pulmonary sequestration (ELS) is a malformation composed of bronchopulmonary tissue outside the lungs that is discontinuous from the main tracheobronchial tree. ELS can present as a suprarenal space occupying lesion. Case Report: A 1-day old girl presented with a right supra-adrenal mass, first detected in-utero at 34 weeks. The differential included congenital neuroblastoma, but the urinary VMA was normal. At resection, there was lung tissue composed of dilated and tortuous bronchioles lined by columnar epithelium present in a back- to- back arrangement along with thick-walled vessels, features of an ELS with congenital pulmonary airway malformation type II. Conclusion: ELS enters the differential diagnosis of neonatal suprarenal masses with normal urinary catecholamines, and can have the morphology of a type II congenital pulmonary airway malformation.

Cutaneous angiosarcoma - Mimicking giant condyloma acuminata with molluscum-like satellite lesions.

Angiosarcoma (AS) is a rare malignant tumor of vascular or lymphatic epithelium, typically presenting as a bruise-like patch over the face or scalp in the seventh-ninth decades. Here, we report a case of cutaneous AS (cAS) in a 51-year-old male patient who presented with a cauliflower-like growth in the groin with skin-colored shiny flat-topped satellite papules in the surrounding areas, some of which were umbilicated. Based on examination, the patient was considered retro positive and the following differentials were considered: Buschke-Lowenstein tumor with giant molluscum, Kaposi sarcoma, and squamous cell carcinoma. Histopathological examination suggested the diagnosis as AS, which was confirmed by immunohistochemistry that was positive for CD31 and CD34. The report highlights the unusual site and clinical presentation of cAS.

External and internal parasitic conjoined twinning: Diverse presentation and different surgical challenges.

Background: Parasitic conjoined twin is a rare but well-known entity with unclear embryopathogenesis. Abnormal conjoined twinning can result in an externally attached parasitic twin (PT), an enclosed foetus in foetu, or a mature teratoma. The treatment requires complete excision and reconstruction of local anatomy which is not always straightforward. Materials and Methods: PT cases presenting over 12 years were analysed. Patients with complete data, histopathological diagnosis and follow-up were included in the study. During follow-up, specific complications and related investigations were considered. Results: A total of five patients at four different sites were identified: two retroperitoneal foetus in foetu and three externally attached PTs which were located in the lumbar region, sacrococcygeal area and on the lower anterior abdominal wall. All patients underwent complete surgical excision. In foetus in foetu cases, the blood supply was directly from the aorta with a short stump while the three externally located ones required meticulous and careful dissection with the reconstruction of local anatomy. Conclusion: Parasitic conjoined twinning can present at different sites and surgical challenges vary accordingly. For surface lesions, reconstruction may be as complicated as excision. Prognosis can be affected by the excellence of anatomical restoration. Long-term follow-up is essential to address problems specific to the site of lesion and method of surgical reconstruction.

'Hybrid' Bronchopulmonary Malformation - Lobar Emphysema and Extra Lobar Sequestration.

Background: Idiopathic lobar emphysema (ILE) and bronchopulmonary sequestration (BPS) are two of the well-characterized pulmonary malformations. Case report: An antenatally detected case of a left bronchopulmonary malformation (BPM) was clinicoradiologically diagnosed to be a left upper lobar emphysema with isolated dextrocardia in the neonatal period. Besides the emphysematous left upper lobe, an accessory lobe akin to an extra lobar BPS was an operative surprise. Histopathological examination of both excised lobes led to a revised diagnosis of a 'hybrid' malformation comprising lobar emphysema and extra lobar BPS. The postoperative recovery was uneventful. Discussion/conclusion: The observations suggest that BPS and ILE may be interim entities in a continuum of abnormal embryogenesis. Such a hybrid malformation has not been hitherto reported.

Congenital Pouch Colon: Further Histopathological Perspectives.

Congenital pouch colon is an uncommon anomaly worldwide and is usually associated with anorectal malformations. Imperforate anus with a large air fluid level on the abdominal x ray suggests the diagnosis. Most cases are diagnosed in neonates and an early management limit complications. Few studies have documented the histopathological features of congenital pouch colon.We present two cases with varied associated anomalies (Case 1 with rectovesical fistula, Case 2 with Mayer Rokitansky Kuster Hauser syndrome) and their histopathological features. Immunohistochemistry for calretinin showed paucity of ganglion cells and intrinsic fibers with occasional punctate positivity. The c-Kit immunostain documented fewer interstitial cells of Cajal. Cystitis glandularis with intestinal metaplasia (Case 1) and an additional muscle layer (Case 2) are described.These novel histopathological features characterize the entity further and may be related to genesis of the pouch and its clinical manifestations.

Non Syndromic Paucity of Interlobular Bile Ducts in Children - A Clinicopathological Study.

Background: Non syndromic paucity of interlobular bile ducts (NS-PILBD) constitutes a miniscule of infantile cholestasis. Method: Clinical details, investigations, surgical findings, management and outcome of cases of NS-PILBD at liver biopsy were analyzed. Specific histopathological features including bile duct to portal tract ratio were studied. Results: Eighteen cases (1993-2013) are detailed. Clinical presentation and investigations were similar to biliary atresia. Hepatic scintigraphy showed no gut excretion in 13/18 and operative cholangiogram was normal in all. Liver biopsy showed a median Scheuer fibrosis stage of 2, the mean bile duct/portal tract ratio was 0.29. The average age at last follow up of twelve cases was 54.9 months . Ten were asymptomatic and anicteric, the liver function tests had normalized over 3-15 months. Conclusion: Histopathology differentiated NS-PILBD from other causes of infantile cholestasis .The idiopathic form generally had a favorable long term outcome with medical management.

Metaplastic Carcinoma of Breast and Neurofibromatosis 1: A Rare Association.

Neurofibromatosis 1 (NF1) patients are generally at higher risk of developing common malignant tumors such as brain and soft tissue tumors. These patients are 5-fold increased the risk of developing breast cancer by the age of 50 years after that the risk remains the same. The most common reported cancer is infiltrating duct carcinoma. We report a case of 61-year-old female with NF1 presented with pain and breast lump for the past 2 months. On mammography, a retroareolar solid cystic lesion measuring 32 mm × 30 mm × 30 mm was noted which was definitive for malignancy. Right-modified radical mastectomy with axillary lymph node dissection was done which revealed a neoplasm composed of glandular and squamous components. Immunohistochemically, these cells were triple negative for estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2-neu and expressed markers of basal cell differentiation. The final pathological staging was T2N0M0. This is the fourth case report in the English literature with such association. In this case report, we discussed the importance of breast cancer screening in such patients along with a review of the literature.

Role of synaptophysin in the intraoperative assessment of quadrantic innervation of the proximal doughnut in Hirschsprung disease.

BACKGROUND: Symptoms may persist in a retained aganglionic segment of the colon after corrective (pull-through) surgery in Hirschsprung disease (HD). Thus, it is important to assess the proximal doughnut for innervation abnormalities intraoperatively by frozen sections stained with conventional haematoxylin and eosin stain and supported by rapid acetylcholinesterase (AChE) histochemistry. When the doughnut is proximal to the sigmoid colon, AChE is not useful and requires ratification by yet another rapid technique and hence this study. METHODS: Two pathologists independently evaluated fresh doughnuts from the proximal bowel clinically assumed to be of normal innervation intraoperatively and chosen for anastomosis in patients with HD along with controls using AChE and synaptophysin (SY) immunohistochemistry. RESULTS: From 38 patients with HD, 28 doughnuts (63.7%) showed normal innervation with intense SY activity in the mucosa, the muscularis and the ganglion cells. The circumferential aganglionic doughnuts (abnormal innervation) (n= 6, 13.6%) showed neither SY-positive fibres in the mucosa nor in the muscularis. The abnormal transition zone doughnuts (n=10, 22.7%) showed involvement of three quadrants of the doughnut in one, two quadrants in three and one quadrant in six with decreased SY-positive fibres in the muscularis and scattered ganglion cells with a statistically significant measure of agreement of (κ=0.973) between the two. CONCLUSION: The pattern, intensity and distribution of SY-positive fibres in the muscularis propria of the doughnut of the proximal bowel chosen intraoperatively for anastomosis in HD can identify sectors with abnormal innervation allowing the surgeon to seek normal innervation status more proximally to avoid complications.

Appendicular Biopsy in Total Colonic Aganglionosis: A Histologically Challenging and Inadvisable Practice.

Background The reliability of intraoperative evaluation of ganglion cells in the appendix as a guide to a diagnosis of total colonic aganglionosis is unclear. Objective To evaluate the diagnostic utility of appendicular innervation in colonic Hirschsprung disease (HD) and TCA. Methods Prospective, systematic study of ganglion cells and the neural plexii in appendices from cases (HD and TCA) and age matched controls with frozen and paraffin sections, rapid acetylcholinesterase (AChE) and immunohistochemistry. Results A total of 48 appendices (28 controls, 20 cases; 19 frozen) were evaluated. Of these 48, 30 were neonates. Ganglion cell clusters were smaller in controls (28) and HD (6) than those in the rectum, distorted at places and mimicked lymphocytes and endothelial cells, especially in neonates. Complete study of 13 appendices in TCA showed absence of ganglion cells, hypertrophic nerves, AChE activity, and calretinin staining. In 2/13 TCA, an erroneous frozen section identification of ganglia was later corrected based on AChE histochemistry and a panel of IHC stains. Ileal biopsies guided the placement of a ganglionic ileostomy in all. One case each of skip segment aganglionosis in a TCA and variable hypoganglionosis in long segment colonic HD is reported. Conclusion Intraoperative characterization of appendicular innervation as a guide to the diagnosis of TCA is unreliable, in part because of the possibility of skip segment disease/variable hypoganglionosis. We propose terminal ileal biopsies for diagnosis and leveling of aganglionosis. AChE on frozen/calretinin on paraffin tissue is the best approach to avoid diagnostic errors.

Hirschsprung Disease - Current Diagnosis and Management.

Hirschsprung disease is a common cause of neonatal and infantile large gut obstruction. It is characterised by varying extent of contiguous aganglionosis extending from the anorectum proximally. Since its recognition, the diagnosis and management has continuously evolved with advances in histological evaluation and surgical techniques. This article summarizes the current modalities of investigation and optimal surgical management of Hirschsprung disease and concludes with a reference to the Indian scenario.

"The Jelly Belly": Diagnostic Dilemmas and Current Concepts.

BACKGROUND: Pseudomyxoma peritonei (PMP) is a rare and poorly understood clinicopathological entity characterized by gelatinous ascites with neoplastic or non-neoplastic mucinous implants in the peritoneum. Although its origin was debated, current evidence in literature favours the appendix as the origin of the disease, over the ovaries. The changing terminologies in the classification of this entity pose diagnostic and management challenges. CASE REPORTS: Herein, we report three cases of PMP in postmenopausal women, their clinical presentation, pathological staging based on the peritoneal tumor deposits and the treatment administered. Two patients recovered uneventfully, while one had recurrence of adenocarcinoma. CONCLUSION: The rarity of this disease and the diagnostic challenges associated with it are discussed with an emphasis on the current concepts in its origin and management. Appropriate classification and complete removal of the tumor is mandated to prevent disease-related mortality.

Endocardial tuberculosis.

We report a 30-year-old male patient with persistent fever, history of stroke, and a left atrial mass. He was diagnosed as miliary pulmonary tuberculosis radiologically and had fever despite 2 months of antitubercular treatment. The mass was excised and fever resolved. Acid fast bacilli (AFB) were demonstrable on Ziehl Neelsen stain and routine histopathology. To the best of our knowledge, the visualization of AFB from an intracardiac lesion on ZN staining has not been reported earlier and tuberculosis must be considered in the differential diagnosis of left atrial masses.

Calretinin immunohistochemistry versus improvised rapid Acetylcholinesterase histochemistry in the evaluation of colorectal biopsies for Hirschsprung disease.

BACKGROUND: Acetylcholinesterase (AChE) histochemistry on rectal mucosal biopsies accurately diagnoses Hirschsprung disease (HD), but is not widely employed as it requires special tissue handling and pathologist expertise. Calretinin immunohistochemistry (IHC) has been reported to be comparable to AChE staining with the loss of expression correlating with aganglionosis. AIM: The aim was to evaluate calretinin IHC as a primary diagnostic tool in comparison to the improvised rapid AChE technique in the diagnosis of HD. MATERIALS AND METHODS: A total of 74 rectal biopsies (18 fresh frozen - 18 cases, 56 formalin fixed - 33 cases) from 51 cases of suspect HD were evaluated with hematoxylin and eosin/AChE/Calretinin. Ten biopsies each from ganglionated and aganglionated segments served as positive and negative controls. Ileal (3), appendiceal (3) and ring bowel (2) biopsies were also included. Two pathologists blinded to the clinical details evaluated the histomorphology with AChE and calretinin. Observations were statistically analyzed and Cohen's k coefficient employed to assess agreement between two pathologists and calretinin and the AChE. RESULTS: The study confirmed HD in 26 and non-HD in 25 cases. There were 7 neonates, 5 low level biopsies and 14 "inadequate" biopsies. The results of calretinin were comparable with AChE with a statistically significant measure of agreement of k = 0.973 between the two. One false-positive case of HD was noted with calretinin. The advantages and disadvantages of calretinin versus AChE are discussed. CONCLUSION: Calretinin is a reliable single immune marker for ruling out HD by its specific positive mucosal staining of formalin fixed rectal biopsy. The improvised AChE staining remains indispensable to confirm HD on fresh biopsies and thus, along with calretinin IHC maximizes the diagnostic accuracy of HD in difficult cases.

Atypical extragonadal germ cell tumors.

AIM: To review the experience with the diagnosis and management of extragonadal germ cell tumors (GCT) with a subset analysis of those with atypical features. MATERIALS AND METHODS: A retrospective chart review of patients of extragonadal germ cell tumors between 2000 and 2010 was carried out. RESULTS: Fifteen children aged 7 days to 15 years (median, 1.5 years) were included. Three had an antenatal diagnosis (one sacrococcygeal, one retrobulbar, one retroperitoneal tumor) and were operated in the neonatal period. The locations were distributed between the retrobulbar area (1), anterior neck-thyroid gland (1), mediastinum (4), abdominothoracic extending through the esophageal hiatus (1), retroperitoneal (4) and sacrococcygeal (4). On histological examination, five harbored immature elements while two were malignant; the latter children received postexcision adjuvant chemotherapy. There was no mortality. At a median follow-up of 4.5 years (6 months to 8 years), 14/15 have had an event-free survival. One immature mediastinal teratoma that recurred locally 7.5 years after the initial operation was excised and adjuvant chemotherapy instituted. CONCLUSIONS: Extragonadal GCTs in children are uncommon and occasionally present with atypical clinical, radiological and histological features resulting in diagnostic and therapeutic dilemmas.

Lingual thyroglossal duct cysts--a review.

OBJECTIVES: Lingual thyroglossal duct cysts (TGDC) are rare and liable to be missed in a cursory clinical examination. This study aimed to report the details of lingual TGDC from the authors' series and review existing literature on the entity. METHODS: A 12 year retrospective survey of all cases of thyroglossal duct anomalies managed at a tertiary teaching hospital was conducted to identify those with lingual TGDC. Their clinical presentation, investigations, diagnosis and management were analysed. Case series from anecdotal published English literature were critically reviewed with particular regard to diagnosis and management. RESULTS: Of 78 cases of thyroglossal duct anomalies, 3 were lingual TGDC. All were females. One neonate presented with feeding difficulty and was clinically misdiagnosed as a ranula. The two older children presented with a cyst at the foramen caecum. The varied imaging and diagnostic dilemma are presented. The older children had cysts abutting the hyoid and were managed with transoral excision and a Sistrunk procedure; the neonate was managed with transoral excision only. This report also reviews the sparse literature and discusses specific issues in their treatment. The differential diagnoses encompass a wide array of developmental and neoplastic entities. Specific anatomic imaging with USG/CT/MRI and functional evaluation with radionuclide thyroid scan are essential investigative modalities. Besides a classical Sistrunk procedure and simple transoral excision, newer less invasive treatment options including marsupialisation and alcohol ablation have been reported. CONCLUSIONS: In conclusion, the diagnosis and management of lingual TGDC needs to be individualised depending on their presentation and anatomic location. The Sistrunk's procedure is ideal for those in close proximity to the hyoid; however complete cyst excision would suffice in the rest.

Segmental dilatation of sigmoid colon in a neonate: atypical presentation and histology.

Segmental dilatation of the colon is a rare disorder of colonic motility in children, often presenting with severe constipation in older infants, children, and occasionally adults. It may mimic the commoner Hirschsprung disease clinicoradiologically but differs in that the ganglion cell morphology and distribution are typically normal in the colon. We report a neonate with segmental dilatation of the sigmoid colon who had an atypical clinical presentation and describe certain abnormalities in bowel histology (hypertrophied muscularis propria, nerve plexus, and ganglion cells located within the circular layer rather than the normal myenteric location), for the first time in the English literature.

Actinomycosis in urachal remnants: A rare cause of pseudotumor.

Actinomycosis is a chronic inflammatory condition caused by Actinomyces israeli, a gram positive anaerobic bacterium. It can have a variety of clinical manifestations and can mimic a malignancy. We present one such case of urachal actinomycosis that mimicked a tumor. A 28-year-old man presented with abdominal pain of 20 days duration. Per abdominal palpation revealed a firm mass with ill-defined borders in the suprapubic region. Computed tomography and magnetic resonance imaging scans of the pelvis showed an irregular lesion in the urinary bladder extending to the umbilicus, giving the impression of urachal remnants with inflammation. Peroperatively, an irregular, hard mass measuring 6 × 5 cm, involving the anterior and posterior bladder walls, the appendix, the terminal ileum and sigmoid colon, was seen, which was suspicious for a malignancy. Frozen sections from the mass showed extensive inflammation and a florid fibroblastic proliferation, giving the impression of an inflammatory pseudotumor. The tissue was extensively sampled for paraffin sections and only one of them revealed a colony of Gram, PAS and GMS- positive organisms, conclusive for Actinomycosis. It is important to be aware of this uncommon, yet significant, presentation of a common infectious disease in order to avoid misdiagnosis and over-treatment as a malignancy.

An unusual case of primary osteosarcoma of the rib in an adult.

Primary osteosarcomas are one of the most common malignant bone tumors principally affecting the long bones in children and adolescents. An unusual case of a primary osteoblastic osteosarcoma of the rib in a 42-year-old male is presented here. The patient underwent a wide excision of the tumor and chest wall reconstruction. Although clinically unsuspected in this unusual site, the classic microscopic feature of a ramifying osteoid matrix amidst the tumor cells was diagnostic of an osteosarcoma.