Epididymal sarcoidosis: a report of two cases and a review of the literature

Two cases of epididymal sarcoidosis, presenting as scrotal masses, are described. Biopsies of the epididymis and scalene nodes established the diagnosis. The literature of epididymal sarcoid and its differential diagnosis is discussed.     

Primary malignant melanoma of the nasal cavity: report of two cases and review of the literature

Primary malignant melanomas of the nasal cavity are rare, as only 400 cases have been reported to date. The present paper describes two cases recently seen in Caucasian women. The authors point out the difficult clinical diagnosis, as the symptoms are rather aspecific. From the histopathological point of view, diagnosis is easy in the melanotic cases while can show interpretating problems in the amelanotic ones, when melanoma is almost indistinguishable from other malignant neoplasms. A correlation between histological grading and prognosis was not detected, as both cases showed local recurrences within one year after surgery although they were, respectively, of epithelioid and undifferentiated type. While surgery appears to be the choice treatment of the primary lesion, the treatment of cervical metastasis is still disputable. On the whole, most authors think that the role played by radio- and mainly chemo-therapy is still limited and that cervical adenopathies should be treated by a simple lympho-adenectomy rather than by a neck dissection.     

Endobronchial lipoma: two cases and review of the literature.

Endobronchial lipoma is a benign tumour of the large bronchi occurring in middle-aged men. To the 38 successfully treated cases in the English literature a further 2 are added. The symptoms are those of obstructive pneumonitis mimicking bronchogenic carcinoma, and the result of delayed therapy may be bronchiectasis. Treatment includes local resection through a bronchoscope or a bronchotomy incision, or removal, if necessary, of the obstructed lobe or lung at thoracotomy. Smoking may be important in the pathogenesis of this tumour.     

Hypertrichosis cubiti: two new cases and a review of the literature

Two cases of hypertrichosis cubiti in combination with short stature, facial dysmorphias and retarded development are reported with a review of the literature. Hypertrichosis cubiti, the hairy elbows syndrome, consists of a localized form of long vellus hair on the extensor surfaces of the distal third of the upper arm and the proximal third of the forearm bilaterally. It can be associated with short stature and other physical abnormalities. The mode of inheritance has not been established yet; an autosomal recessive as well as an autosomal dominant inheritance trait are postulated.     

星型奴卡菌感染两例并文献复习

目的:探讨星型奴卡菌感染的临床表现及诊断、治疗、预后,及星型奴卡菌细菌学鉴定、生化反应、及药敏实验的阳性所见。方法:报告广州军区总医院2例星型奴卡菌病的临床资料并复习相关文献,对其临床表现、诊断、治疗及预后进行回顾性分析。结果:两例星型奴卡菌病患者经治疗后痊愈出院,定期随访,未复发。结论:奴卡菌病属于严重的机会性感染,病原菌的分离和鉴定是诊断本病的首要条件,应及早使用磺胺类药物,必要时予外科辅助治疗。     

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.

     

Herniation of gravid uterus: report of 2 cases and review of literature

Anterior abdominal wall hernias are uncommon, and herniation of a gravid uterus into these hernias is even rarer. Although reducible initially, the herniation of pregnant uterus may be complicated by incarceration and subsequent strangulation within the hernial sac, late in the course of pregnancy. There is no consensus over the management of this rare condition. Each case should be individualized. If uncomplicated, a conservative approach until term followed by delivery and herniorrhaphy is a good option. Here, 2 cases of herniation of gravid uterus into the anterior abdominal wall are described along with a brief review of literature pertaining to its presentation, complications, and management.     

Takotsubo syndrome with pulmonary embolism: a case report and literature review

Background

Takotsubo syndrome (TTS) is an acute cardiac condition with reversible heart failure which is often triggered by psychological and physical stressful events. Although pulmonary embolism (PE) was reported as a trigger for TTS, the concurrence of TTS and PE has been rarely reported, let alone that triggered by PE. Here we describe a case of a postmenopausal female presenting with symptoms similar to myocardial ischemia, which may be caused by PE, and review the available literature that may help clinicians with their practice to similar situations since no published guidelines are available.

Case presentation

An 86-year-old female was referred to the emergency department for unrelieved chest tightness, shortness of breath and back pain. Cardiac biomarkers were mildly elevated and electrocardiogram displayed pathologic Q-waves, ST-segment elevation and inverted T-waves. Unexpectedly, coronary angiography was in absence of obstructed coronary atherosclerosis or acute plaque rupture. Chest computed tomography illustrated multiple pulmonary emboli in bilateral pulmonary arteries. She had suffered from long-term right lower extremity pain and experienced a long railway journey with less activity. Both echocardiogram and cardiac magnetic resonance demonstrated regional hypokinesia of left ventricle. She received anticoagulant and diuretic therapies, three-month follow up after discharge revealed uneventful recovery without any pulmonary emboli or regional motion abnormalities, thus she was retrospectively diagnosed with TTS caused by PE.

Conclusion

TTS and PE are scarcely concurrent and PE can exert as a potential trigger for TTS. TTS is easily misdiagnosed, actively seeking possible risk factors of TTS is in favor of early diagnosis and timely intervention. TTS with PE is reversible, timely and effective treatments ensure the best possible outcome.

     

Dermatophytoses due to Microsporum gypseum: report of eight cases and literature review

Microsporum gypseum is a geophilic fungus infrequent agent of human dermatophytoses and world-wide in distribution. In Cadiz, Spain, between 1997 and 2003, a study of 133 positive cases showed that the fifth more isolated dermatophyte was M. gypseum (6.0%), followed by Trichophyton mentagrophytes (24,8%), Microsporun canis (24,6%), Trichophyton rubrum (21,8%) y Trichophyton violaceum (6,8%). During 2003 the infection due to this fungus has been repeatedly observed in our area (17.5%). We report herein eight new cases of infection by M. gypseum. Our epidemiological data were compared with those obtained by other authors in other regions of Spain and in those reported in other countries.     

Ring chromosome 10: report on two patients and review of the literature

Ring chromosome 10—r(10)—is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in order to investigate ring instability and determine breakpoints. Patient 1 showed a r(10)(p15.3q26.2) with a 7.9 Mb deletion in 10q26.2-q26.2, while patient 2 showed a r(10)(p15.3q26.13) with a 1.0 Mb deletion in 10p15.3 and a 8.8 Mb deletion in 10q26.13-q26.3, both unstable. While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed legs, and dermal pigmentation regions. Our data and the data from literature show that there are no specific clinical findings to define a r(10) syndrome.     

Plasmacytoma of the breast. Unusual initial presentation of myeloma: report of two cases and review of the literature

Two patients who presented initially with breast masses proven to be plasmacytomas, are described. In both cases the breast masses led to the diagnosis of multiple myeloma, which was retrospectively already present at the time of the breast biopsy. One patient with IgG lambda-type myeloma developed plasma cell leukemia and amyloidosis and failed to respond to radiochemotherapy. The second patient was in complete remission, four years after therapy, but has subsequently relapsed and died. All cases of breast plasmacytoma, described in the medical literatures are reviewed, and guidelines for future therapy are suggested.     

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.     

静脉毒瘾者金黄色葡萄球菌性感染性右心内膜炎(附2例报告及文献复习)

本文在国内首次报道２例静脉毒瘾者金黄色葡萄球菌性感染性右心内膜炎（ＳＩＲＥＤ）,其临床特点：①常合并有肝炎病毒感染;②确诊有赖于心脏超声检查发现三尖瓣赘生物、细菌的毒血症状及血培养的结果;③治疗应根据药敏结果选择２至３种敏感的抗生素联用,其剂量应比常规量大２至３倍,疗程６至８周或更长;④有效治疗后,该病预后良好     

Alstrom syndrome (OMIM 203800): a case report and literature review

Hereditary chronic pancreatitis (HCP) is a very rare form of early onset chronic pancreatitis. With the exception of the young age at diagnosis and a slower progression, the clinical course, morphological features and laboratory findings of HCP do not differ from those of patients with alcoholic chronic pancreatitis. As well, diagnostic criteria and treatment of HCP resemble that of chronic pancreatitis of other causes. The clinical presentation is highly variable and includes chronic abdominal pain, impairment of endocrine and exocrine pancreatic function, nausea and vomiting, maldigestion, diabetes, pseudocysts, bile duct and duodenal obstruction, and rarely pancreatic cancer. Fortunately, most patients have a mild disease. Mutations in the PRSS1 gene, encoding cationic trypsinogen, play a causative role in chronic pancreatitis. It has been shown that the PRSS1 mutations increase autocatalytic conversion of trypsinogen to active trypsin, and thus probably cause premature, intrapancreatic trypsinogen activation disturbing the intrapancreatic balance of proteases and their inhibitors. Other genes, such as the anionic trypsinogen (PRSS2), the serine protease inhibitor, Kazal type 1 (SPINK1) and the cystic fibrosis transmembrane conductance regulator (CFTR) have been found to be associated with chronic pancreatitis (idiopathic and hereditary) as well. Genetic testing should only be performed in carefully selected patients by direct DNA sequencing and antenatal diagnosis should not be encouraged. Treatment focuses on enzyme and nutritional supplementation, pain management, pancreatic diabetes, and local organ complications, such as pseudocysts, bile duct or duodenal obstruction. The disease course and prognosis of patients with HCP is unpredictable. Pancreatic cancer risk is elevated. Therefore, HCP patients should strongly avoid environmental risk factors for pancreatic cancer.