Bhuvaneshwari Mahendra Kandalkar

Primary hyperparathyroidism: a clinicopathological experience.

BACKGROUND Parathyroid neoplasms form a small percentage of head and neck neoplasms. Primary hyperparathyroidism is caused by parathyroid adenomas, hyperplasia or, rarely, a carcinoma. MATERIALS AND METHODS This is a retrospective study of 48 parathyroidectomies received in the Department of Pathology of a major teaching hospital over a period of 10 years. Clinical, biochemical and radiological details were retrieved from medical records. Information regarding routine gross and microscopic examination findings (including frozen section and paraffin sections) was retrieved from departmental records. RESULTS We had 43 adenomas, three hyperplasias and two carcinomas. The most common age group was 21-30 years. The female:male ratio was 2.5:1. Most patients presented with skeletal manifestations. The pre-operative diagnosis was assisted by ultrasonography in 11 cases, computerized tomography of the neck in 10 cases and sestamibi scans in three cases. Intra-operative parathormone monitoring was performed in one case of adenoma. Frozen section was requested in 28 of 48 cases. There was a discrepancy between frozen section diagnosis and paraffin section diagnosis in two cases. CONCLUSION Histopathologic diagnosis is an important guide to decide the type of surgical management. Although pathologic features of parathyroid carcinoma are diagnostically reliable, those of the more commonly encountered lesions of adenoma and hyperplasia may be overlapping and, therefore, indistinctive, more so if only a single gland is available for examination. Because parathyroid lesions are only occasionally encountered by the surgical pathologist, awareness of the spectrum of histologic features along with knowledge of recent trends in diagnosis and surgical management are important.

Giant adrenal myelolipoma

Adrenal myelolipoma is a rare benign tumor composed of adipose and hematopoietic tissue. Most tumors are small in size and incidentally detected. We report a case of giant adrenal myelolipoma weighing 2200 gms which was diagnosed on radiology as a liposarcoma. This case is unusual in view of the large size and presence of bony spicules. To the best of our knowledge, not more than 10 giant adrenal myelolipoma cases have been reported in literature.

OVOTESTICULAR DISORDER OF SEX DEVELOPMENT: A SINGLE-CENTER EXPERIENCE.

OBJECTIVE Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study was to describe the clinical, biochemical, imaging, cytogenetic, surgical, and histopathologic findings and outcomes of patients with OT DSD from Western India. METHODS The records of patients referred to our center for disorders of sex development between 2005 and 2013 were reviewed, and 7 patients were found to have histologically proven OT DSD. RESULTS The median age at presentation was 8 years (range, 2 months to 25 years). Clinical presentation varied from genital ambiguity and inguinal swelling at birth to gynecomastia and cyclical hematuria after puberty. Karyotype was 46, XX in 6 patients and 46, XY in 1 patient. All patients underwent pelvic ultrasonography, laparoscopy, and surgery for removal of gonads not congruous with the chosen sex of rearing. Gender assignment for all the patients was done by the parents at birth, which was mainly influenced by the external genitalia and sociocultural influences, with 5 out of the 7 patients being reared as males. There was no evidence of gonadal tumors in our study. CONCLUSION OT DSD should be considered as one of the differential diagnoses in cases of ambiguous genitalia with nonpalpable or asymmetrical gonads, pubertal gynecomastia, and cyclical hematuria, irrespective of the karyotype or internal genitalia.

Sirenomelia with oesophageal atresia: a rare association.

We are reporting a rare case of sirenomelia with oesophageal atresia. Sirenomelia is a lethal sporadic defect of which lower gastrointestinal tract anomalies are characteristic findings. Respiratory and upper gastrointestinal tract malformations like oesophageal atresia occur in about 20-35% of cases. Though its occurrence has been described, it has been reported only rarely. This report aims at describing this uncommon association along with its histological features.

Fetus in fetu: An Institutional Experience

The objective of this article is to present an analysis of cases of fetus in fetu (FIF) diagnosed at our institute and to compare our data to that of the published literature. This is a retrospective analysis of cases of FIF diagnosed at our institute from January 2000 to December 2012. Details of clinical and investigational data pertaining to cases of FIF were retrieved from hospital records, and were analyzed and summarized. Literature was reviewed and our data were compared to that of published cases. We evaluated seven cases (4 males and 3 females) of FIF during the study period. The age of patients ranged from two days to 15 years. The most common site of occurrence in our study was the retroperitoneum, with the most common presenting feature being an abdominal mass. Radiology showed a solid-cystic mass. Pathologic findings were diagnostic of FIF. Most findings of our study matched with those reported in literature. The condition of FIF must be included in the differential diagnosis of abdominal masses, especially in children. This entity must be differentiated from the more commonly occurring teratoma, which can be done based on its unique clinical, radiologic, and pathologic characteristics. To our knowledge, this is the longest series of cases of FIF reported from a single institute.

Multifocal Nephrogenic Adenoma – A Mimicker of Malignancy

The authors report a multifocal nephrogenic adenoma of urinary bladder in an 11-y-old girl. Nephrogenic adenomas occur almost exclusively in the urinary bladder in children and are rarely multifocal. Less than 30 cases of nephrogenic adenomas have been reported in children and very few of these are multifocal. This report aims at drawing attention to this rare entity in children.

To observe the intensity of the inflammatory reaction caused by neonatal urine and meconium on the intestinal wall of rats in order to understand etiology of intestinal damage in gastroschisis

Objectives: The aim of this experimental study was to observe the intensity of the inflammatory reaction caused by neonatal urine and meconium on the intestinal wall of rats to better understand etiology of intestinal damage in gastroschisis. Materials and Methods: A total of 24 adult Wistar rats were used as experimental models to simulate the effect of exposed bowel in cases of gastroschisis. The peritoneal cavity of the rats was injected with substances which constitute human amniotic fluid to study the effect on the bowel. Sterile urine and meconium were obtained from newborn humans. The rats were divided into four groups according to the material to be injected. In Group I (Control group) 3 mL of distilled water was injected, in Group II (Urine group) 3 mL of neonatal urine was injected, in Group III (Meconium group) 5% meconium suspension was injected, while in Group IV, a combination of 5% meconium suspension and urine was injected. A total of 3mL solution was injected into the right inferior quadrant twice a day for 5 days. The animals were sacrificed on the 6th day by a high dose of thiopentone sodium. A segment of small bowel specimen was excised, fixed in paraffin, and stained with hematoxylin-eosin for microscopic analysis for determination of the degree of inflammatory reaction in the intestinal wall. All pathology specimens were studied by the same pathologist. Results: The maximum bowel damage was seen in Group II (Urine group) in the form of serositis, severe enteritis, parietal necrosis, and peeling. A lesser degree of damage was observed in Group III (Meconium group) as mild enteritis (mild lymphoid hyperplasia). The least damage was seen in Group IV (Combination of meconium and urine) and Group I (Control group). Conclusion: The intraabdominal injection of neonatal human urine produces significant inflammatory reactions in the intestinal wall of rats.

Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence.

Holoprosencephaly is a rare congenital disorder which results from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees. Depending on the degree of involvement, it is classified into 4 types: Alobar, Semilobar, Lobar and Middle interhemispheric fusion variant. A male child was born to 28-year-old female at 34 weeks of gestation. The mother on antenatal follow-up was detected to have a fetus with multiple congenital anomalies on Ultrasonography (USG) done at 34weeks of gestation. The baby died after 12 hours of birth. A complete autopsy was performed. On external examination, multiple congenital anomalies were seen including cleft lip and palate, absent nasal bridge, proptosis of right eye, micropenis, left undescended testis, bilateral rocker bottom feet, omphalocele and sacral meningomyelocele. Internal examination of the brain revealed hydrocephalus and features of alobar holoprosencephaly. This case is presented for its rarity. In addition, it is unusual for a fetus with alobar holoprosencephaly to survive till term as this is the most severe type. Though facial malformations are usually present in a case of holoprosencephaly, its association with sacral meningomyelocele and omphalocele has rarely been described in literature.

Pathological aspects of a rare association of duodenal teratoma with exomphalos minor

Teratomas are neoplasms, which are foreign to the anatomic site of occurrence. They occur in children, most commonly in sacrococcygeal region and gonads and less frequently at other sites. Teratomas of gastrointestinal tract are very rare. We report pathological aspects of an unusual case of teratoma having communication with the duodenum with exomphalos minor and malrotation of the intestine.

An Unusual Presacral Cyst in An Infant.

The neurenteric cyst is a rare developmental lesion arising as a result of persistence of the neurenteric canal. It usually presents in the second and third decade. Lesions occurring in children are rare. Majority of the cases presented with signs of spinal cord involvement. This is a rare case of neurenteric cyst in an infant who presented with a presacral mass. A nine-month-old female had an antenatally diagnosed sacrococcygeal lesion. Radiology suggested a diagnosis of sacrococcygeal teratoma. Histology was typical of a neurenteric cyst. We report this case to create awareness about this rare cystic lesion and inclusion of this entity in the differential diagnosis of cystic masses in children at this location.