Persistent Trigeminal Artery Causing an Abducens Nerve Palsy: A Case Report.

We present a case of a 50-year-old female who was diagnosed with an isolated right abducens nerve palsy and was found to have a persistent trigeminal artery (PTA). The trigeminal artery is the most common persistent embryological carotid-vertebrobasilar anastomosis. A PTA can be picked up as an incidental finding on magnetic resonance imaging (MRI) or angiography. It has been reported that a PTA can be found in 0.1 to 0.6% of all cerebral angiograms. PTA has been linked to several rare abnormalities such as vascular aneurysms and cranial nerve compression. Our patient presented with diplopia and was found to have a paresis of the right lateral rectus muscle consistent with a right abducens nerve palsy. MRI found a right-sided PTA indenting the ventral surface of the pons. This case investigates and highlights that neurovascular compression from a PTA can cause an isolated abducens nerve palsy. Further research is required to investigate if surgical intervention for non-aneurysmal PTA would be beneficial for patients.

CMV presenting as a skin growth in renal transplant patient.

CMV infection is one of the most common opportunistic infection in kidney transplant patients. If not treated, it is associated with increased mortality and graft loss. It can present as viremia or CMV disease in the form of CMV syndrome or tissue invasive CMV disease. The cutaneous presentation of CMV disease is a rare finding. Its identification is vital as cutaneous CMV infection can signal systemic infection and poor prognosis. In our case, 46-year-old male who was a post renal allograft recipient (RAR) presented as a protuberant growth over the medial side of the left ankle. On skin biopsy, nucleomegaly and inclusion bodies were seen in the epithelial cells. Immunohistochemistry was positive for CMV infection. Patient was treated with Ganciclovir, however, he succumbed to death because of severe sepsis due to secondary bacterial infection. Thus, CMV disease should always be kept in mind in immunocompromised patients like post RAR patients who present with cutaneous features like ulcerative lesions or fungating growth.

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

Embryonal rhabdomyosarcoma of the uterine cervix in a 41-year-old woman: a deceptively benign entity.

Rhabdomyosarcoma (RMS) of the cervix in women older than 40 years of age is extremely rare. Embryonal RMS can appear deceptively benign both clinically and histopathologically. Diagnosis is made on the basis of histomorphologic and immunohistochemical findings. A high index of suspicion is, however, needed to make the diagnosis, as they can masquerade as benign polyps. A 41-year-old female with cervical RMS is described here. The initial biopsy diagnosis of embryonal RMS was confirmed on subsequent hysterectomy. The present case report is described with emphasis on histopathologic features and diagnostic difficulties along with a brief review of the literature.

Isolated Urinary Bladder Metastasis in Renal Cell Carcinoma Detected on 18F-FDG PET/CT Scan.

ABSTRACT: Renal cell carcinoma (RCC) is an aggressive carcinoma with hematogenous spread commonly to lungs, liver, and bones. However, few cases of isolated urinary bladder metastasis have also been reported. Here we report a case of 63-year-old man, a known case of left RCC (clear cell type), post left nephrectomy, who was on regular clinicoradiological follow-up. He presented with complaints of painless hematuria; on further evaluation, 18F-FDG PET/CT revealed few FDG-avid intramural nodular lesions along the walls of urinary bladder. He underwent TURBT, and the tissue was sent for histopathological examination, which was diagnostic of metastatic RCC.

Hepatic hemangioendothelioma in an infant with severe congenital neutropenia.

Severe congenital neutropenia (SCN) is a rare disorder caused by heterogeneous genetic mutations. We describe here a rare association of SCN caused by a novel ELANE mutation and infantile hepatic hemangioendothelioma. In a 2-month-old infant, an abdominal ultrasound performed for omphalitis revealed a hepatic tumor, which was resected. Histopathology confirmed the diagnosis of hemangioendothelioma. Postoperatively, severe neutropenia was noted. Bone marrow examination showed myeloid maturation arrest, diagnostic of SCN. Mutation analysis for the neutrophil elastase gene identified a novel heterozygous de novo ELANE missense mutation in exon 2 (c.215T>A, p.Val72Glu). He was managed successfully with broad-spectrum antibiotics and high-dose granulocyte colony-stimulating factor.

A Large Intraoral Lipoma: Case Report.

Lipomas of the oral cavity are uncommon. Here we report a case of 85 year old female presenting with a progressively increasing large growth in the oropharynx which was diagnosed as lipoma on histopathology. The clinicoradiological and histopathological findings are discussed. To the best of our knowledge; this is one of the largest intraoral lipoma reported in India till date. The present case highlights the need to be aware of intraoral lipomas which can present as large growths at this unusual site so as to avoid any unwarranted aggressive surgery.

Cytochrome C as a potential clinical marker for diagnosis and treatment of glioma.

Gliomas are the most prevalent kind of malignant and severe brain cancer. Apoptosis regulating mechanisms are disturbed in malignant gliomas, as they are in added forms of malignancy. Understanding apoptosis and other associated processes are thought to be critical for understanding the origins of malignant tumors and designing anti-cancerous drugs for the treatment. The purpose of this study was to evaluate the variation in the expression level of several apoptotic proteins that are responsible for apoptosis in low to high-grade glioma. This suggests a significant change in the expression of five apoptotic proteins: Clusterin, HSP27, Catalase, Cytochrome C, and SMAC. Cytochrome C, one of the five substantially altered proteins, is a crucial component of the apoptotic cascade. The complex enzyme Cytochrome C is involved in metabolic pathways such as respiration and cell death. The results demonstrated that Cytochrome C expression levels are lower in glioma tissues than in normal tissues. What's more intriguing is that the expression level decreases with an increase in glioma grades. As a result, the discovery shows that Cytochrome C may be a target for glioma prognostic biomarkers.

Cystic echinococcosis of the pelvic bone with recurrences: a case report.

Hydatid cysts commonly affect the liver and the lung. However, they rarely involve bones with vertebral column. We hereby report a case of a female patient with cystic echinococcosis of the hip bone and ilium. She presented with a long history of frequent recurrences highlighting the dismal prognosis at this rare site. Resection of the hydatid cyst from the sacroiliac region was done with allograft and autograft (rib graft) with lumbosacroiliac fixation. Follow-up of the patient at 6 months showed no detectable abnormality on radiology and the patient was doing well.

Unusual presentation of a choroidal melanoma.

A 49-year-old gentleman presented with a 1-day history of painful deterioration of vision in his right eye. He was lifting heavy weights just before this visual loss. On examination, his vision was perception of light in that eye, with a medically uncontrollable high intraocular pressure and hyphaema almost completely filling his anterior chamber. An ultrasound performed suggested a working diagnosis of a Valsalva related 'eight ball' bleed. After an anterior chamber washout, he had another episode of bleeding three days later. A pars plana vitrectomy was performed and the sample obtained was sent off to the laboratory, revealing a choroidal melanoma. Following enucleation, the histology confirmed a large necrotic spindle cell melanoma, with a haemorrhagic background. Fortunately, no liver metastasis was found. Since his diagnosis 3 years ago, he continues to be followed up in an artificial eye clinic and has regular liver scans under the care of his oncologist.

Undifferentiated pleomorphic sarcoma of the chest wall: a rare diagnosis.

A 31-year-old man with no predisposing factors and no history of chronic disease presented with a small painless lump over his anterior chest wall. On evaluation, it was found to be undifferentiated pleomorphic sarcoma. He underwent wide local excision of the tumour with clear margins, followed by adjuvant radiotherapy. At 6-month follow-up, the patient is clinically and radiologically disease free.

Exploring the role of epidermal growth factor receptor variant III in meningeal tumors.

Meningioma is the second most common type of intracranial brain tumor. Immunohistochemical techniques have shown prodigious results in the role of epidermal growth factor receptor variant III (EGFR vIII) in glioma and other cancers. However, the role of EGFR vIII in meningioma is still in question. This study attempt the confer searches for the position attained by EGFR vIII in progression and expression of meningioma. Immunohistochemistry technique showed that EGFR vIII is highly expressed in benign tumors as compared to the atypical meningioma with a highly significant p-value (p<0.05). Further analysis by flow cytometry results supported these findings thus presented high intensity of EGFR vIII in low grades of meningioma. The study revealed that the significant Ki 67 values, to predictor marker for survival and prognosis of the patients. Higher expression of EGFR vIII in low grades meningiomas as compared to high-grade tumors indicate towards its oncogenic properties. To our knowledge, limited studies reported in literature expressing the EGFR vIII in meningioma tumors. Hence, Opinions regarding the role that EGFR vIII in tumorigenesis and tumor progression are clearly conflicting and, therefore, it is crucial not only to find out its mechanism of action, but also to definitely identify its role in meningioma.

Plasma-Derived Extracellular Vesicles Reveal Galectin-3 Binding Protein as Potential Biomarker for Early Detection of Glioma.

Gliomas are the most common type of the malignant brain tumor, which arise from glial cells. They make up about 40% of all primary brain tumors and around 70% of all primary malignant brain tumors. They can occur anywhere in the central nervous system (CNS) and have a poor prognosis. The average survival of glioma patients is approximately 6-15 months with poor aspects of life. In this edge, identification of proteins secreted by cancer cells is of special interest because it may provide a better understanding of tumor progression and provide early diagnosis of the diseases. Extracellular vesicles (EVs) were isolated from pooled plasma of healthy controls (n=03) and patients with different grades of glioma (Grade I or II or III, n=03 each). Nanoparticle tracking analysis, western blot, and flow cytometry were performed to determine the size, morphology, the concentration of glioma-derived vesicles and EV marker, CD63. Further, iTRAQ-based LC-MS/MS analysis of EV protein was performed to determine the differential protein abundance in extracellular vesicles across different glioma grades. We further verified galectin-3 binding protein (LGALS3BP) by ELISA in individual blood plasma and plasma-derived vesicles from control and glioma patients (n=40 each). Analysis by Max Quant identified 123 proteins from the pooled patient exosomes, out of which 34, 21, and 14 proteins were found to be differentially abundant by more than 1.3-fold in the different grades of glioma grade I, pilocytic astrocytoma; grade II, diffuse astrocytoma; grade III, anaplastic astrocytoma, respectively, in comparison with the control samples. A total of seven proteins-namely, CRP, SAA2, SERPINA3, SAA1, C4A, LV211, and KV112-showed differential abundance in all the three grades. LGALS3BP was seen to be upregulated across the different grades, and ELISA analysis from individual blood plasma and plasma-derived extracellular vesicles confirmed the increased expression of LGALS3BP in glioma patients (p<0.001). The present study provides LGALS3BP as a potential biomarker for early detection of glioma and improve survival outcome of the patient. The present study further provides the information of progression and monitoring the tumor grades (grade 1, grade II, grade III).

Isolated single lobe hyperplasia of the thyroid gland, presenting as anterior mediastinal mass, detected on positron emission tomography-computed tomography scan.

We report a case who presented with facial swelling and breathlessness. Recent chest X-ray was suggestive of soft-tissue in the mediastinum. In view of the suspicion of mass being neoplastic, the patient was referred for positron emission tomography-computed tomography (PET-CT) scan. Whole-body fluorodeoxyglucose (FDG) PET-CT scan revealed a mildly FDG-avid large lobulated soft-tissue mass in the anterior mediastinum, seen to arising from right lobe of the thyroid gland, extending into the right hemithorax. Histopathological examination of the mass was compatible with adenomatous hyperplasia of the thyroid. Here, we report an unusual case of isolated single lobe hyperplasia of the thyroid gland, masquerading as an anterior mediastinal mass.

Tophaceous gout in thoracic spine mimicking meningioma: A case report and literature review.

BACKGROUND: Gout is a common metabolic disorder of purine metabolism, causing arthritis in the distal joints of the appendicular skeleton. Spine involvement is rare, and very few cases of spinal gout have been reported. The authors present a rare case of axial gout with tophaceous deposits in the thoracic spinal canal resulting in cord compression and mimicking a meningioma. CASE DESCRIPTION: A 33-year-old male presented with chronic mid back pain and a progressive paraparesis. The presumed diagnosis was meningioma based on MR imaging with/without contrast that showed a posterolateral, right-sided, and T10-T11 intradural extramedullary lesion. Notable, was hyperuricemia found on hematological studies. The patient underwent a decompressive laminectomy (T9-T11) for excision of the lesion, intraoperatively, an intraspinal, chalky, white mass firmly adherent to and compressing the dural sac was removed. The histopathology confirmed the diagnosis of a gouty tophus. Postoperatively, the patient's pain resolved, and he regained the ability to walk. CONCLUSION: A gouty tophus should be included among the differential diagnostic considerations when patients with known hyperuricemia present with back pain, and paraparesis attributed to an MR documented compressive spinal lesion.

Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene FRMD7 (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye movement recordings of 90 subjects with mutation in the gene (FRMD7 group) to 48 subjects without mutations but with clinical IIN (non-FRMD7 group). Fifty-eight female obligate carriers of the mutation were also investigated. The median visual acuity (VA) was 0.2 logMAR (Snellen equivalent 6/9) in both groups and most patients had good stereopsis. The prevalence of strabismus was also similar (FRMD7: 7.8%, non-FRMD7: 10%). The presence of anomalous head posture (AHP) was significantly higher in the non-FRMD7 group (P < 0.0001). The amplitude of nystagmus was more strongly dependent on the direction of gaze in the FRMD7 group being lower at primary position (P < 0.0001), compared to non-FRMD7 group (P = 0.83). Pendular nystagmus waveforms were also more frequent in the FRMD7 group (P = 0.003). Fifty-three percent of the obligate female carriers of an FRMD7 mutation were clinically affected. The VA's in affected females were slightly better compared to affected males (P = 0.014). Subnormal optokinetic responses were found in a subgroup of obligate unaffected carriers, which may be interpreted as a sub-clinical manifestation. FRMD7 is a major cause of X-linked IIN. Most clinical and eye movement characteristics were similar in the FRMD7 group and non-FRMD7 group with most patients having good VA and stereopsis and low incidence of strabismus. Fewer patients in the FRMD7 group had AHPs, their amplitude of nystagmus being lower in primary position. Our findings are helpful in the clinical identification of IIN and genetic counselling of nystagmus patients.

Impact of colour blindness on recognition of haematuria in bladder cancer patients.

OBJECTIVE: Colour blindness might lead to failure in recognizing frank haematuria. Our aim is to investigate as to whether colour-blind males who develop bladder cancer present later with less favourable histology. PATIENTS AND METHODS: Two hundred male patients with bladder cancer were assessed using Ishihara plate test for colour deficiency. Degree of haematuria, method of presentation and initial histologic findings were also determined. RESULTS: Colour-blind patients who develop bladder cancer present with less favourable histology compared with non-colour-blind (p = 0.01). CONCLUSION: Colour blindness was associated with presentation with more advanced bladder tumours.

WT1 in astrocytomas: Comprehensive evaluation of immunohistochemical expression and its potential utility in different histological grades.

BACKGROUND: Wilms' tumor 1 (WT1) mutation has recently been detected in gliomas. Growing data indicate that WT1 mutation plays a causal role in gliomagenesis and is overexpressed in most glioblastomas. An emerging immunotherapy targeting WT1 has shown to be effective in resistant glioblastomas in clinical trials. WT1 expression and its potential utility in various grades of astrocytomas is still unclear and needs further elucidation. The evaluation of WT1 can be done by molecular or immunohistochemical methods. As immunohistochemistry is easier with wider routine use, immunoexpression of this biomarker was studied. AIM: The aim of this study was to characterize WT1 immunoexpression across different histological grades of astrocytomas to routinely aid in diagnosis and reproducibility and to assess the association between WT1 and immunomarker isocitrate dehydrogenase (IDH1). MATERIAL AND METHODS: This was an observational prospective study on 79 cases of astrocytomas. RESULTS: Seventy-nine astrocytomas including 11 recurrent tumors were assessed for WT1 by immunohistochemistry. WT1 expression was detected in all astrocytomas (100%). The control group of reactive gliosis was negative. WT1 score correlated with histological tumor grades (P < 0.001) with higher score in higher grade. It was also observed that different tumor grades depicted two distinct expression patterns. WT1 score and pattern were valuable in differentiating high- and low-grade astrocytomas. CONCLUSION: This study supports the oncogenic role of WT1 in astrocytomas. WT1 was found to be valuable in distinguishing different grades of astrocytomas. WT1 can aid in differentiating neoplastic process from reactive gliosis, particularly in recurrent tumors. Higher expression in glioblastomas supports its immunotherapy potential.