Chondrosarcoma of the spine: A rare case with unusual presentation

Background

TMAs are becoming a useful tool for research and quality control methods, mostly for immunohistochemistry and in situ hybridization.

Methods

A new technique that allows building TMA blocks with more than 300 tissue cores without using a recipient paraffin block for the tissue cores and without using a commercial TMA builder instrument is described. This technique is based on the construction of TMA needles modifying conventional hypodermic needles to punch tissue cores from donor blocks, which are attached by double-side adhesive tape on a computer-generated paper grid used to align the cores on the block mould, which is filled with liquid paraffin.

Results

More than two hundred TMA blocks were constructed using this method, utilized in immunohistochemistry and histochemistry as positive and negative controls and also in research.

Conclusion

This technique has the following advantages: it is easy to reproduce, affordable, quick and creates uniform blocks with more than 300 cores aligned, adherent and easy to cut, with negligible losses during cutting and immunohistochemistry and in situ hybridization procedures.     

Trisomy 4q syndrome: presentation of a new case and review of the literature

We describe the 11th case of a de novo partial trisomy of the long arm of chromosome 4, with the extra segment spanning from 4q27 to 4q35. The aberration resulted from an unbalanced translocation of material from 4q to the short arm of chromosome 7, as evident from fluorescent in situ hybridization. Microsatellite analysis revealed the extra material to originate from the father. The karyotype was interpreted as 46,XX,der(7)t(4;7)(q27;p22). The patient is a 13-year-old girl with severe mental retardation, growth retardation, hearing impairment as well as minor foot, thumb and facial anomalies. Although the extent of the aberration varies between the reported patients, there are nevertheless features in common, suggestive of a trisomy 4q syndrome. The clinical findings most frequently reported are: mental retardation, seizures, microcephaly, hearing impairment and growth retardation, as well as epicanthic folds, high/broad/depressed nasal bridge, malformed ears, tooth and thumb anomalies. Almost the entire long arm of chromosome 4, except band q11, has been involved in trisomies/duplications, but 4q27 and 4q31 seem to be preferentially engaged in the trisomy 4q syndrome.     

An unusual presentation of filariasis: a case report

BACKGROUND: Filariasis and its consequences are a major health problem in tropical countries, including the Indian subcontinent. Despite its high incidence, it is unusual to find microfilaria in fine needle aspiration cytology (FNAC) smears. We present a case of subcutaneous firm to cystic swelling, aspiration of which revealed a large number of microfilaria. CASE: A 30-year-old man presented with a chain of intermittent, firm swellings in both arms. FNAC of the swellings revealed a large number of 4 microfilariae with associated giant cell reaction and inflammatory cell-like eosinophils. CONCLUSION: Besides the documented usual mode of presentation of filarial infection, it can present in an atypical manner, so careful examination of aspirates from the subcutaneous swellings, especially in filariasis endemic zones, is very important.     

Behavioral disorders as unusual presentation of pediatric extraventricular neurocytoma: report on two cases and review of the literature

Background

Extraventricular neurocytomas (EVNs) are rare parenchymal brain tumors, distinct from central neurocytomas that are typically located within the supratentorial ventricular system. Seizures and headache represent the most common symptoms of extraventricular neurocytomas in the cerebral hemisphere both in adult and pediatric population.

Case presentation

We describe two cases of pediatric EVN with clinical onset characterized by behavioral and attention deficit/ hyperactivity disorders. The association between behavioral/attention disorders in childhood and the presence of a frontal neurocytoma has never been described before. Furthermore, inappropriate levels of inattention, hyperactivity and impulsivity are common among the neurobehavioral and developmental disorders in childhood. We reviewed 43 pediatric cases of extraventricular neurocytoma included in the PubMed database and their clinical presentation, and we never found this unusual relationship.

Conclusion

In childhood, the attention/hyperactivity disorders seem to be often over-diagnosed. When these deficits are more subtle and do not well-fit in a specific neurocognitive disorder, the clinicians should have a suspicion that they might mask the clinical features of a frontal lesion. This paper is focused on the clinical presentation of the extraventricular neurocytoma and the possible organic etiology of an attention and hyperactivity deficit.

     

An unusual presentation of paracoccidioidomycosis in an AIDS patient: A case report

A case of paracoccidioidomycosis presenting as a solitary pulmonary nodular lesion in a patient with acquired immunodeficiency syndrome (AIDS) is presented. This case illustrates that restricted lung lesions can also be found and diagnosed in immunodeficient patients. This revised version was published online in June 2006 with corrections to the Cover Date.     

Origin of uniparental disomy 6: presentation of a new case and review on the literature

Paternal uniparental disomy (UPD) of chromosome 6 has been reported several times in patients with (transient) neonatal diabetes mellitus ((T)NDM). Here we present our short tandem repeat typing results in a new patient with NDM, revealing a paternal isodisomy (UPiD). Summarising these data with those published previously on complete paternal (n=13) and maternal (n=2) UPD6, all cases show isodisomy. In general, several modes of UPD formation have been suggested: While a meiotic origin of UPD mainly results in a uniparental heterodisomy (UPhD), UPiD is probably the result of a post-zygotic mitotic error. This mode of formation consists of a mitotic nondisjunction in a disomic zygote, followed by either a trisomic rescue or a reduplication. Endoduplication in a monosomic zygote is another possible but less probable mechanism, taking into consideration that monosomic zygotes are not viable. The exclusive finding of isodisomy in case of chromosome 6 therefore gives strong evidence that segregational errors of this chromosome are mainly influenced by postzygotic factors. This hypothesis is supported by the observation of two cases with partial paternal UPiD6 originating from mitotic recombination events. The influence of mitotic segregational errors in UPD6 formation is in agreement with the results in trisomy/UPD of other chromosomes of the C group (7 and 8), and is in remarkable contrast to the findings in studies on the origin of the frequent aneuploidies. Multiple factors ensure normal segregation and we speculate that they vary in importance for each chromosome.     

An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature

BACKGROUND Cat-Eye syndrome (CES) with teratoma has not been previously reported. We present the clinical and molecular findings of a 9-month-old girl with features of CES and also a palpable midline neck mass proved to be an extragonadal mature teratoma, additionally characterized by array comparative genomic hybridization (aCGH). RESULTS High resolution oligonucleotide-based aCGH confirmed that the supernumerary marker chromosome (SMC) derived from chromosome 22, as was indicated by molecular cytogenetic analysis with fluorescence in situ hybridization (FISH). Additionally, aCGH clarified the size, breakpoints, and gene content of the duplication (dup 22q11.1q11.21; size:1.6 Mb; breakpoints: 15,438,946-17,041,773; hg18). The teratoma tissue was also tested with aCGH, in which the CES duplication was not found, but the analysis revealed three aberrations: del Xp22.3 (108,864-2788,689; 2.7 Mb hg18), dup Yp11.2 (6688,491-7340,982; 0.65 Mb, hg18), and dup Yq11.2q11.23 (12,570,853-27,177,133; 14.61 Mb, hg18). These results indicated 46 XY (male) karyotype of the teratoma tissue, making this the second report of mature extragonadal teratoma in a female neonate, probably deriving from an included dizygotic twin of opposite sex (fetus in fetu). CONCLUSIONS Our findings extend the phenotypic spectrum of CES syndrome, a disorder with clinical variability, pointing out specific dosage-sensitive genes that might contribute to specific phenotypic features.     

Fatigue sacral fractures: A case series and literature review

Objectives:Fatigue sacral fractures (FSFs) are rare and often misdiagnosed. This study presents a series of FSFs and a meticulous literature review.Methods:The present is an 11-year (2010-2021) retrospective observational study. The characteristics of all adult patients with FSF, including demographics, fracture type, treatment, history of fatigue fracture and imaging were evaluated.Results:Eight cases (6 females; 75%), suffering from 12 fractures (4 bilateral cases) with mean age=33.4 years were studied. Two patients (25%) had suffered another fatigue fracture in the past. Mean symptoms’ duration prior diagnosis was 8.5 weeks, while mean symptoms’ duration after diagnosis was 10.75. In most cases (7; 87.5%), MRI revealed the fracture. According to the Kaeding-Miller classification; five fractures (42%) were grade III, four (33%) IV and three (25%) II. All patients were treated conservatively, with rest and analgesics, while three received vitamin D and calcium. One patient, due to delayed union, was commenced on teriparatide.Conclusions:FSFs are often misdiagnosed; therefore, they should be included in the differential diagnosis for chronic low back-or-hip pain in athletes. History of other fatigue injuries seems to be a predisposing factor. It is of paramount importance to obtain advanced imaging for identifying a FSF.     

Renal cell carcinoma presenting as a solitary cutaneous facial metastasis: case report and review of the literature

Background

Renal cell carcinoma is well known for its frequency to metastasise, particularly to lungs, liver, bones and brain. Metastasis to the skin is much less common. Presentation as a result of the skin lesion is even more unusual, with only 14 previously reported cases in the English literature. The majority of these cases have been reported in patients with recurrent disease or with other metastases.

Case presentation

We present only the second case of non-recurrent renal cell carcinoma with a solitary cutaneous facial metastasis reported in the English literature.

Conclusion

Clinicians should conduct a careful inspection of the skin in patients with renal cell carcinoma and also have a high index of suspicion of primary internal organ malignancy in patients presenting with a skin lesion.

     

Pericentric inversion of the X chromosome: presentation of a case and review of the literature.

A large pericentric inversion of the X chromosome [inv(X)(p22.31q26.3)] was found to be transmitted in four generations through phenotypically normal males and females. In one female carrier, the inv(X) was late replicating in 70% of lymphocytes and 46% of skin fibroblasts. Steroid sulfatase (STS), an enzyme which normally escapes inactivation has been located to Xp22.32 and, in our case, has been moved to an aberrant position. We have assayed its activity in clones with the inv(X) inactive or the normal X inactive and found no significant differences. Thus, the STS locus escaped X inactivation in both the normal and the inverted X chromosomes. A review of the literature shows that almost half of the breakpoints on the short arm are found at region p22 and we propose that low-copy repetitive DNA segments along the X chromosome are responsible for non-homologous pairing and production of inversions.     

Neuroaxial anesthesia in a patient with progressive systemic sclerosis : case presentation and review of the literature on systemic sclerosis

Background

Systemic sclerosis (SSc), a progressive disease characterized by excessive accumulation of connective tissue components. Although most patients have long survival, some of them progress rapidly to death. Pulmonary system involvement and pulmonary hypertension are the most frequent cause of death. When the patient with SSc is to be operated, the anesthetic procedure could be a serious problem. In this article, we report a combined spinal – epidural technique in a patient with progressive SSc and the anesthetic considerations that could be recommended for these patients.

Case presentation

A 68-year-old woman who had a history of progressive systemic sclerosis, pulmonary fibrosis, kyphoscoliosis and decreased oral apertura underwent total hip arthroplasty. This operation was performed successfully under combined spinal epidural anesthesia.

Conclusion

Systemic sclerosis is a complex disease that involves multiple organ systems. Every aspects of anesthetic care may be altered or hindered by the pathogenesis of disease. Although the choice of regional or general anesthesia is unclear, to choose combined spinal epidural anesthesia may be useful.     

Rhinosporidiosis in Egypt: A case report and review of literature

Rhinosporidiosis is an infection caused by Rhinosporidium seeberi that frequently presents as a polypoidal nasal lesions. Here, we report the first indigenous case of tumoral rhinosporidiosis in Egypt. In this case, a 25-year-old male patient from a rural background of Assuit City presented with epistaxis and a nasal polyp. The patient had not traveled abroad. The diagnosis was established on the morphological basis by the identification of 5- to 10-m endospores and 50- to 1000-m sporangia. The clinicopathological and immunologic features were discussed and the literature was reviewed. To the best of our knowledge this is the first case of this disease to be reported in Egypt in the human literature.     

Nasopharyngeal mucoepidermoid carcinoma: A case report and review of literature

Background

Salivary gland-type tumors originating in the nasopharynx are rare, and only a few articles about mucoepidermoid carcinomas (MEC) in this location have been reported. We describe one case of nasopharyngeal MEC and, based on a review of the literature, discuss different therapeutic approaches that can be taken regarding the result of histological findings, radiological tests and extent of disease.

Case presentation

A 47-year-old woman diagnosed with mucoepidermoid carcinoma of nasopharynx, T1 N3 M0 (stage IV-B) was treated in 2007 with a combination of radiotherapy and chemotherapy to a maximum dose of 70 Gy and concomitant Cisplatin during the radiation. One year later, with the head and neck disease under control, mediastinal nodes relapse appeared which were treated with exclusive radiotherapy to a maximum dose of 65 Gy. One year after the first relapse, a second relapse was detected in the right lung, next to the previously treated mediastinal regions, and the patient initiated a treatment with exclusive chemotherapy based on TPF scheme.

Conclusion

For limited or resectable MEC, combined surgery with radiotherapy, or radiochemotherapy, should be considered the main treatment policy. On the other hand, in poorly differentiated, unresectable tumors or nasopharyngeal MEC, radiochemotherapy could be currently the main treatment approach.     

Giant solitary synovial osteochondromatosis of the elbow causing ulnar nerve neuropathy: a case report and review of literature

Introduction

Giant or solitary osteochondroma is part of a rare disorder known as synovial osteochondromatosis. It forms part of a spectrum of disease characterized by metaplastic changes within the joint synovium that are eventually extruded as loose bodies. It has been suggested that solitary synovial osteochondroma forms as progression of synovial osteochondromatosis through a process of either coalescence of multiple smaller bodies or the growth of a dominant synovial osteochondroma. Previous studies have shown that it occurs as a late phase of the disease. We report a rare case of giant synovial osteochondromatosis at the elbow causing ulnar nerve neuropathy and mechanical symptoms which has not been previously reported in the literature.

Case report

We report a case of a 56 year old Western European gentleman who presented with ulnar nerve neuropathy and swelling behind the elbow. The patient underwent MR imaging and subsequent biopsy that demonstrated synovial osteochondromatosis. Initially the patient declined surgery and opted for a watch and wait approach. Five years later he returned with worsening symptoms and underwent successful surgical resection of a giant solitary synovial osteochondroma.

Conclusion

The unique outcome in our patient despite the long interval between presentation and surgical treatment resulted in early full resolution of symptoms within a short period. It may suggest an improved prognosis as compared to multiple synovial osteochondromatosis in terms of mechanical and neurological outcomes.     

Case report: atypical presentation of vancomycin induced DRESS syndrome: a case report and review of the literature

Background

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe hypersensitivity drug reaction involving the skin and multiple internal organ systems. The symptoms typically present with fever and skin rash, and rapidly progress to multiple organ failures. Vancomycin is a rare drug to cause DRESS syndrome with 23 cases reported to date.

Case presentation

We described a case of a 39 year-old man who was treated with vancomycin for osteomyelitis of the foot. The patient subsequently developed acute respiratory distress syndrome (ARDS) followed by rash and acute interstitial nephritis. These symptoms were improved by withdrawal of vancomycin and a pulsed corticosteroid regimen. According to the European Registry of Severe Cutaneous Adverse Reaction Criteria (RegiSCAR) (Kardaun et al, British Journal of Dermatology, 169:1071-1080, 2013), the probability of vancomycin induced DRESS syndrome was scored as “Definite”. A literature search of vancomycin induced DRESS syndrome was also performed and the overall pulmonary involvement was estimated as 5%. To our knowledge, this was the first case reported with pulmonary involvement as the initial symptom.

Conclusion

This is the first case to report pulmonary manifestation as the initial symptom in vancomycin induced DRESS syndrome. Prompt recognition of this entity can expedite proper treatment and hasten recovery.