Ortner's syndrome and giant-cell vasculitis

INTRODUCTION: Ortner's syndrome was first described as a left laryngeal nerve palsy caused by a dilated left atrium in mitral stenosis. Aortic aneurysm is another well-documented etiology. CASE RECORD: We report the case of a 90 year-old woman with temporal arteritis with recent onset hoarseness, and simultaneous discovery of aortic arch aneurysm and left vocal cord palsy. DISCUSSION: The occurrence of hoarseness and aortic aneurysm in Giant-cell vasculitis is discussed. We suggest to consider Horton's disease (GCA) as a possible etiology of Ortner's cardio-vocal syndrome.     

Ortner's syndrome in association with mitral valve prolapse

The case of an 83-year-old woman with a history of hypertension, valvular heart disease, atrial fibrillation, and cardiomegaly is presented. The patient also had progressive hoarseness of her voice and intermittent dysphagia. Ear, nose, and throat examination revealed left vocal cord paralysis. Echocardiography revealed severely dilated left (LA) and right atria (RA), moderate mitral regurgitation, severe tricuspid regurgitation, and prolapse of both these valves. A review of literature of Ortner's or cardiovocal syndrome is presented. Ortner's syndrome due to mitral valve prolapse has not been reported previously.     

Extramedullary plasmacytoma: report of two cases with uncommon presentation

Lymph node infiltration by monoclonal plasma cells can occur either in aggressive forms of myeloma or may represent regional extension of extramedullary plasmacytomas, whereas lymph node plasmacytoma presenting as a solitary extramedullary plasmacytoma is very unusual. We report two cases of lymph node plasmacytomas without systemic disease diagnosed after surgical excision. Clinical remission was achieved after local radiotherapy although one patient relapsed with multifocal extramedullary plasmacytomas 20 months after radiotherapy.     

Sclerosing mesenteritis. Report of two cases with different clinical presentation

Sclerosing mesenteritis is a rare disease of the mesenterium of unknown cause and chronic evolution. Two presentations have been reported: mesenteric panniculitis and retractile mesenteritis; inflammation of mesenteric fat predominates in one of them, while fibrotic thickening and shortening of the mesenterium is characteristic of the other. We report two cases of sclerosing mesenteritis which presented in very different ways. One patient suffered an episode of intestinal obstruction, and the second one was admitted for evaluation of fever of unknown origin (FUO). While intestinal obstruction is a relatively common complication of sclerosing mesenteritis, its presentation as a FUO is exceptional.     

Gasperini syndrome, a report of two cases

We report 2 cases of Gasperini syndrome and consider them with the 11 previously reported cases to describe the clinical characteristics of this rare syndrome: Core neurological signs are peripheral facial nerve palsy and abducens nerve palsy of the affected side: Among all cases, imaging demonstrated a small lesion in the mediolateral tegmental pons (10/13 cases of microinfarction; 2/13 cases of microbleeding). We found that the responsible artery in ischemic Gasperini syndrome is mainly the long circumferential branch of the anterior inferior cerebellar artery; Case 1 is the first case thought to be caused by infarction of the basilar artery's paramedian branch.     

Sjogren-Larsson syndrome: two cases with delayed diagnosis

INTRODUCTION: Sj?gren-Larsson syndrome (SJS) is an autosomal-recessive disorder. Patients suffer from congenital ichtyosis, mental retardation and symmetric spastic paralysis. Ichtyosis is usually pronounced and associated with erythroderma. Neurological manifestations occur usually between 4 and 13 months of age. This genetic disease is due to fatty acid aldehyde dehydrogenase (FALDH) deficiency, leading to an accumulation of long-chain alcohols. The gene has been mapped to chromosome 17. CASE REPORTS: A 52-year-old woman was hospitalized because of a severe erythroderma with ichtyosis. She suffered from epilepsy, spastic diplegia and mental retardation (Little disease has been diagnosed). The association of spastic paraparesia and ichtyosiform erythroderma suggested the diagnosis of SJS. This was confirmed by the very low level of FALDH activity. A 27-year-old patient was hospitalized for the recent onset paraparesia. Erythematous patches were observed on arm pits and buttocks. The diagnosis of SJS was not confirmed by FALDH assay. DISCUSSION: Diagnosis of Sj?gren-Larsson syndrome is a very rare disease in France. It is useful to evoke the diagnosis when spastic paraparesia is associated with these unusual cutaneous signs.     

Perrault's syndrome: two cases

Perrault's syndrome is an autosomal recessive ovarian dysgenesis associated with sensorineural deafness. We report two cases in sisters issuing from consanguinous parents. Aged 16 and 21 years, both patients present the two cardinal symptoms of the syndrome. Magnetic resonance imaging in the second sister showed high intensity signals in the periventricular and subcortical white substance and in the central ovale, suggestive of cerebral leucodystrophy. This element may be one of a wide spectrum of neurological symptoms found in Perrault's syndrome. The discovery of the causal genes may allow better understanding of the biomolecular mechanisms involved in gonad and sensorineural differentiation.     

Immune reconstitution syndrome associated with leprosy: two cases

Few cases of leprosy as immune reconstitution syndrome have been reported in patients with HIV/AIDS. Two cases of leprosy as immune reconstitution syndrome in AIDS persons are described, and clinical features, diagnostic criteria and pathogenesis are discussed.     

Klinefelter综合征伴糖尿病二例报道

例1,男性,18岁,因糖尿病8年合并高血压入院,其外公有高血压和糖尿病史,父母已排除糖尿病或糖调节受损,其母怀孕时28岁。查体:身高174 cm、指间距168 cm、体重65 kg、血压160/95 mm Hg(1 mm Hg=0.133 kPa),性情女性化倾向,学习成绩较差,无胡须和腋毛、阴毛稀少,双侧乳房发育明显     

Unusual leukemic presentation of rhabdomyosarcoma: report of two cases with immunological, ultrastructural and cytogenetical studies.

BACKGROUND: Bone marrow infiltration occurs rarely at presentation of rhabdomyosarcoma (RMS) or other childhood solid tumors. This possibility leads to misdiagnosis of leukemia and incorrect therapies might be administered. METHODS: We report two patients presenting with diffuse bone marrows involvement by neoplastic cells. Initial studies were not consistent with a diagnosis of leukemia and the cases were further studied extensively by indirect immunofluorescence, immunocytochemistry, electron microscopy and cytogenetics. RESULTS: In both cases blast cells were large, poorly differentiated, with immunological reactivity to the anti-desmin antibody. Ultrastructural findings of muscular features and chromosomal translocation t(2;13) (q37;q14) further confirmed the diagnosis of rhabdomyosarcoma of the alveolar subtype. This was then confirmed histologically in one patient. CONCLUSION: This study stresses the utility of analyzing cases of morphologically undifferentiated marrow blast cells by various techniques, as well as investigating for different types of both hematological and solid neoplasms.     

以肝衰竭为首要表现的淋巴瘤2例报告

淋巴瘤是起源于淋巴造血系统的恶性肿瘤,好发于淋巴结,但由于淋巴系统的分布特点,使得淋巴瘤常表现为全身性疾病,几乎可以侵犯全身任何组织和器官[1]。因此,淋巴瘤的临床表现既具有一定的共同特点,同时按照不同的病理类型、受侵部位和范围又存在着很大的差异。淋巴瘤合并肝损伤多为轻度肝损伤,引起肝衰竭的报道很少见[2-3]。本文报道了2例以肝衰竭为首要表现的淋巴瘤患者,并回顾近5年的相关文献,总结相关临床特点及误诊原因,以达到早期识别、早期诊断、早期治疗的目的,提高患者生存率。     

Neoplasia of plasma cells with atypical presentation and infection by the human immunodeficiency virus. A presentation of two cases

Neoplasia of plasma cells acquires special clinical characteristics in patients infected by human immunodeficiency virus (HIV). These patients are much younger at the time of diagnosis, and when they are compared with the general population they show an atypical clinical evolution, with a greater frequency of solitary plasmacytomas, less evidence of a monoclonal plasmatic component, or greater aggressiveness of the neoplastic process. This paper provides the most significant data on two patients infected by HIV and diagnosed for plasma cell neoplasia. Recent pathogenetic hypotheses for plasma cell neoplasias that include immune alterations, chronic viral infections, and hyperexpression of cytokines exist in patients infected by HIV, and this could suggest that this type of neoplasia is another malignant haematological process associated with AIDS.