A Novel cause of Massive Hepatosplenomegaly with Fibrosis in two children: Transient Infantile Hypertriglyceridemia.

Background: Transient infantile hypertriglyceridemia (TIH) is a syndrome of hypertriglyceridemia, fatty liver, and deranged liver functions with progression to fibrosis and cirrhosis. It is an autosomal recessive disorder caused by mutations in Glycerol-3-phosphate dehydrogenase 1 gene present on Chromosome 12q12-q13, and has been reported in Israeli Arab families with high consanguinity. TIH is suspected by high serum triglyceride levels and steatosis on liver biopsy; however, diagnosis is confirmed on clinical exome sequencing. Clinical description: We present two cases of TIH belonging to the indigenous Hindu, hilly population of Himachal Pradesh in North India with no history of either consanguinity or family history. Management and outcome: The parents of both the cases were counselled regarding the disease and importance of growth and lipid level monitoring. Conclusion: Though TIH is an extremely rare entity, awareness about it is required as it is a contributor to non-alcoholic fatty liver disease (NAFLD) in children. Any child presenting with hepatomegaly and elevated fasting triglyceride levels should be further investigated for TIH.

An Enigmatic Clinical Presentation of Plasma Cell Granuloma of the Oral Cavity.

Plasma cell granuloma is a rare benign lesion characterized by the infiltration of plasma cells; primarily occurring in the lungs. It is also seen to occur in the brain, kidney stomach, heart, and so on but its intraoral occurrence is a rarity. This case report represents one of the uncommon locations in the oral cavity affected by plasma cell granuloma, its clinical and histological features, and establishes the differential diagnosis with other malignant or benign disease entities and planning the treatment accordingly. This report discusses the diagnostic enigma and the associated terminology of plasma cell granulomas and reinforces the need for performing biopsy and a histopathological or immune histochemical study, irrespective of the clinical features and clinical diagnosis of the lesion. In this case a 52-year-old female, presented with gingival enlargement in the mandibular anterior region, treated by excisional biopsy. Histological evaluation revealed plasma cell infiltrates in the connective tissue. The immune-histochemistry revealed kappa and lambda light chains with a polyclonal staining pattern, which confirmed the diagnosis of plasma cell granuloma.

Primary apocrine carcinoma of an unusual site.

Primary apocrine carcinoma is a rare malignancy most commonly occurring in apocrine dense areas like axilla. There are only about 200 cases reported to date. We report a case of primary apocrine carcinoma present at an unusual site, that is, the arm. A wide local excision of the mass was done and was diagnosed as apocrine carcinoma on histopathological examination and was confirmed by immunohistochemistry. Wide local excision is the treatment required.

Intradural Eosinophilic Granuloma Invading Skull: Case Report and Review of the Literature.

Eosinophilic granuloma is a localized form of Langerhans cell histiocytosis, most commonly involving the skeletal system. Their origin from the dura is rare with only a handful of cases on record. We present one such rare case of an eosinophilic granuloma originating from the dura mater with secondary osseous invasion in an 11-year-old female child who presented with a swelling in the right parietal region. Magnetic resonance imaging demonstrated an enhancing mass with a wide dural attachment with a lytic lesion in the overlying skull. Right parietal extended craniotomy was done with the excision of mass from the dura. Histopathological features of mass were characteristic of eosinophilic granuloma which was confirmed by positive immunohistochemical staining for CD1a.

Papillary thyroid carcinoma with nodular fasciitis-like stroma: A rare variant with distinctive morphology.

Papillary thyroid carcinoma (PTC) is a common malignancy with multiple variants, some of which are rarely encountered in routine surgical pathology practice. PTC with exuberant nodular fasciitis-like stroma or PTC with fibromatosis-like stroma is one such variant. This tumor is characterized by an abundant stromal component with an intervening epithelial component with the typical morphologic features of PTC. We describe gross and histopathological features of this rare variant of papillary carcinoma in a 38-year-old female and review the literature. We also discuss the importance of a thorough search for epithelial components within any fibroproliferative lesion of the thyroid and address the diagnostic difficulties created by the tumor's extensive stromal component. Given the rarity of this condition, the experience gained from the present case is a useful addition to the current knowledge on disease prognostication and management.

Well differentiated neuroendocrine tumor of the kidney: Report of a rare case with review of literature.

Neuroendocrine tumors (NETs) are uncommon tumors that exhibit a wide range of neuroendocrine differentiation and biological behavior. Primary NETs of the kidney, including carcinoid tumor, small cell carcinoma (SCC), and large cell neuroendocrine carcinoma (LCNEC) are exceedingly rare. Renal carcinoids are typically slow-growing tumors and pursue a variable clinical course. In contrast, SCC and LCNEC often present with locally advanced or metastatic disease and carry a poor prognosis. We herein report a rare cases of well-differentiated NET (carcinoid) in a 39-year-old male along with the immunohistochemical features. The rarity of these tumors poses a diagnostic and therapeutic challenge.

Case 231: Retroperitoneal Adrenal Teratoma Presenting as Trichoptysis.

History A 24-year-old woman from a rural village presented with vague left hypochondrium pain and a cough for the past 2 years. She had a history of occasionally expectorating hairlike strands with her cough. Because the patient was from a rural area, she first consulted with the village priest, as she presumed her illness to be some supernatural phenomenon. The priest advised her to collect the strands for religious rituals ( Fig 1 ). She collected these strands for some time; however, because her cough worsened, she visited the hospital. General physical examination findings were within normal limits. On palpation, there was evidence of a vague lump in the left hypochondrial region. At ultrasonography (US) (images not shown), a large mass with heterogeneous echotexture was seen in the left suprarenal region; cystic areas and calcification were present. Chest radiography (images not shown) revealed bronchiectatic changes, with consolidation in the left lower zone. Results of a blood examination, including assessment of renal function, liver function, and complete blood count, were within normal limits. Unenhanced and contrast material-enhanced computed tomography (CT) images of the chest and abdomen were obtained.

Ganglioneuroma arising from the L5 nerve root: A rare case report.

Ganglioneuroma is a rare, benign, slow-growing, well-differentiated tumor consisting ganglion cells and Schwann cells. Ganglioneuromas originate from neural crest cells and can affect any part of the sympathetic tissue from the skull base to the pelvis. However, ganglioneuroma occurring in the nerve root is extremely rare. We describe a 44-year-old man with ganglioneuroma involving the right fifth lumbar nerve root.

Rhabdoid meningioma lacking malignant features: Report of a rare case with review of literature.

We reported a case of meningioma with rhabdoid morphology but lacking histological features of malignancy in arising from the spinal cord in a 28-year-old male. The tumor showed light microscopic, immunohistochemical evidence of meningothelial differentiation together with diffuse areas exhibiting rhabdoid morphology. The rhabdoid areas were characterized by cells with large cytoplasmic eosinophilic inclusions and eccentric nuclei. Unlike most cases reported in the literature, this case lacked significant mitotic activity and other atypical features. The diagnostic and prognostic significance of this tumor entity is discussed along with a review of the literature.

Correlation between cytological and histopathological examination of the endometrium in abnormal uterine bleeding.

BACKGROUND: Abnormal uterine bleeding (AUB) is a common problem for which women seek gynecological consultation. Endometrial aspiration cytology (EAC) is an acceptable and valuable diagnostic procedure for screening the endometrial status. MATERIALS AND METHODS: Endometrial aspiration using a menstrual regulation (MR) syringe and a 4 mm Karman's cannula was performed just prior to D and C in 100 women presenting with AUB. Smears were reviewed for cytomorphological findings and were correlated with the histopathological findings. These findings were categorized as benign endometrium, endometrial hyperplasia, malignancy and inadequate smears. RESULTS: Age of the patients ranged from 19 to 70 years. In our study, the accuracy in diagnosing benign conditions of endometrium, hyperplasia, and malignancy on aspiration cytology were 93.88%, 96.94% and 96.84%, respectively. CONCLUSIONS: Endometrial aspiration is an effective, useful and a minimally invasive procedure. With an experienced cytologist, it can be used routinely for the primary investigation of women with AUB, provided all the points of discrepancies are taken care of.

Acantholytic squamous cell carcinoma of the oral cavity: A rare entity.

Acantholytic squamous cell carcinoma (ASCC) is an uncommon but well-recognized variant of squamous cell carcinoma that was first described by Lever in 1947. ASCC has been reported to originate in the sun-exposed skin of the head and neck and in other sites. However ASCC located in the oral cavity is extremely rare. The patient was a 50-year-old man who presented with an ulcer on the right maxillary alveolar mucosa. The biopsy was diagnosed as ASCC. Tumor resection was therefore performed. Histologically, acantholytic pattern was seen throughout the tumor.

Primary mucosal malignant melanoma of nasopharynx: a rare case report.

Mucosal malignant melanoma (MMM) of the nasopharynx is extremely rare. We report a case of MMM of the nasopharynx in a 56-year-old male patient presenting with a polypoidal mass in the nasopharynx. It was increasing gradually and obstructing breathing. Computed tomography scan was suggestive of a malignant neoplasm in the nasopharynx. A biopsy of the lesion was done with a clinical suspicion of carcinoma. Microscopy revealed features suggestive of malignant melanoma with focal melanin pigmentation. Subsequently, wide local excision was done.

Idiopathic renal replacement lipomatosis: a rare renal pseudo tumor.

Renal replacement lipomatosis (RRL) is a rare condition that occurs as an end result of renal atrophy or destruction of renal parenchyma by excessive lipomatous tissue in renal sinus and perinephric space. We report a case of RRL presenting as a right renal mass clinically. Intra-venous pyelography and renal scan revealed a left non-functioning kidney. A left nephrectomy was performed. After histopathological examination and extensive literature search, a diagnosis of RRL was given. In majority of cases, it is associated with renal calculi. Idiopathic variety is not common. It is a rare entity and the diagnosis may be missed due to lack of experience. It has to be differentiated from other fat-containing tumors such as renal lipoma, xanthogranulomatous pyelonephritis, angiomyolipoma and liposarcoma.

Lipoleiomyoma of uterus and lipoma of broad ligament--a rare entity.

Lipoleiomyoma of uterus are a rare variant of uterine leiomyoma. Clinically the symptoms are indistinguishable from an ordinary leiomyoma. It is diagnosed pre-operatively as leiomyoma or mature ovarian teratoma. Majority of them are post operative chance finding. Solid tumors of broad ligament are also rare. Most of them are lateral extensions from the uterine tumors. Primary lipomas of broad ligament are rare. They are asymptomatic in majority of cases and are incidental post-operative finding. We report this case because of the rarity of individual lesions and rarity of the combination and also speculate their histogenesis as adipose tissue is rare absent at both locations.

Multilocular cystic renal cell carcinoma: a rare entity with review of literature.

Multilocular cystic renal cell carcinoma (MCRCC) represents a rare variant of clear cell renal cell carcinoma (RCC). MCRCC has been recognized as a separate subtype of RCC in the 2004 World Health Organization (WHO) classification of adult renal tumors. MCRCC is diagnosed on the basis of strict histological criteria according to 2004 WHO classification. The chief differentials diagnosis to be considered include cystic nephroma, cystic clear cell carcinoma, clear cell papillary renal cell carcinoma and tubulocystic carcinoma. Only few cases of MCRCC are reported in literature. This case is being highlighted for its rarity and so as to avoid a misdiagnosis as conventional RCC.

Tall cell variant of papillary carcinoma arising from strumaovarii: a rare case report.

Struma ovarii is the presence of thyroid tissue as the major cellular component in an ovarian tumour. Papillary carcinoma in strumaovarii is exceptionally rare. A tall cell variant of papillary carcinoma arising from a strumaovarii has not been reported so far. We present a case of a 40-year-old female with a tall cell variant of papillary carcinoma arising in strumaovarii.