Bronchiectasis and Marfan's syndrome.

Marfan''s syndrome is a rare hereditary disorder characterized by skeletal, cardiovascular and ocular abnormalities. Pulmonary abnormalities occur in approximately 10% of patients the commonest being spontaneous pneumothorax and emphysema. A patient is described who had Marfan''s syndrome and bronchiectasis, an association only described on 2 previous occasions in the literature.     

Aplasia of the right lung and calcifying epithelioma in association with Goldenhar's syndrome

A case of Goldenhar''s syndrome (oculoauriculovertebral dysplasia) with the rare association of aplasia of one lung is presented with a discussion of the clinical findings and the aetiology. The major abnormalities, pulmonary, renal and the undergrowth of the jaw were all right-sided, confirming previous reports. This child developed a calcifying epithelioma and this is cited as support for the theory of the origin of these lesions from epidermoid cysts.     

Marfan's syndrome presenting as bilateral spontaneous pneumothorax.

A case of bilateral spontaneous pneumothorax in a 14-year-old girl with previously undiagnosed Marfan''s syndrome is described. The pulmonary abnormalities of Marfan''s syndrome are not commonly encountered and bilateral pneumothorax is itself a rare event which, in most instances, has been reported following invasive procedures.     

Arthropathy in Dressler's syndrome.

Three patients developed a polyarthritis in association with Dressler''s (post-myocardial infarction) syndrome. Joint involvement was more pronounced in the upper limbs and persisted many months after other features of Dressler''s syndrome had settled. In 2 cases the findings in the joints were slight and might have been overlooked but for the persistently raised ESR. There was a prompt symptomatic response to prednisone.     

Inappropriate antidiuretic hormone secretion in Wernicke's encephalopathy

A case of the syndrome of inappropriate secretion of antidiuretic hormone in association with Wernicke''s encephalopathy is described, where both responded to intravenous vitamin B complex. Thiamine may be life-saving in hyponatraemia with neurological signs due to Wernicke''s encephalopathy.     

A possible association of partial lipodystrophy with anti-GBM nephritis (Goodpasture's syndrome).

Partial lipodystrophy is known to be associated with mesangiocapillary glomerulonephritis. A case is described of a possible association of partial lipodystrophy with anti-GBM nephritis (Goodpasture''s syndrome).     

Klinefelter's syndrome associated with systemic sclerosis

A case of systemic sclerosis is reported in a 41-year-old male with Klinefelter''s syndrome. The significance of this association to the aetiology and pathogenesis of systemic sclerosis is discussed.     

Sj?gren-like pluriglandular exocrine insufficiency after drug-induced toxic epidermal necrolysis.

We present the case of a patient that progressively developed xerophthalmia, xerostomia, cutaneous xerosis and exocrine pancreatic insufficiency 3 months after metamizole-induced toxic epidermal necrolysis. Though the association of Sjögren''s syndrome and exocrine pancreatic impairment is well established, the Sjögren-like syndrome after drug-induced toxic epidermal necrolysis in association with such a wide exocrine glandular insufficiency has not been previously described, to our knowledge.     

Gastric carcinoma and Turner's syndrome

The case is described of a gastric carcinoma developing in a 34-year-old female with Turner''s syndrome. The association has not been previously reported. The literature on the appearance of malignant disease in disorders of the sex chromosomes is reviewed.     

蔡慎初从郁论治雷诺综合征经验

正雷诺综合征是指由血管神经功能紊乱所引起,遇冷或情绪紧张后出现阵发性肢端小动脉强烈收缩,从而导致肢端缺血改变的临床综合征。发病时,肢端皮肤出现阵发性、对称性的苍白-紫绀-潮红性改变,并伴有手脚冰凉、麻木或疼痛。女性发病率可达3%,病情缠绵难愈~([1])。蔡慎初教授为国家级名老中医药专家,从事中医相关临床、科研工作50余载,对雷诺综合征的诊治有丰富和独到的经验。笔者有幸侍诊于侧,现将蔡老师治疗雷诺综合征经验介绍如下,与同道共飨。     

Turner's syndrome associated with bicuspid aortic stenosis and dissecting aortic aneurysm

A case of Turner''s syndrome is described associated with bicuspid aortic stenosis and fatal rupture of a thoracic dissecting aortic aneurysm. Histology of the aneurysm showed severe cystic medial necrosis. This association has not been previously described in the absence of coarctation.     

Serum bone Gla protein and carboxyterminal cross-linked telopeptide of type I collagen in patients with Cushing's syndrome.

Serum bone Gla protein, a marker of bone formation, and carboxyterminal cross-linked telopeptide of type I collagen levels, an index of bone resorption, were evaluated in eight patients with active Cushing''s syndrome and in four with ''preclinical'' Cushing''s syndrome, before and after surgery. In basal conditions, serum bone Gla protein levels were significantly lower (p < 0.0001) in patients with active Cushing''s syndrome (1.0 +/- 0.35 ng/ml) than in controls (5.4 +/- 0.15 ng/ml); two out of four patients with the ''preclinical'' form had reduced bone Gla protein levels, while in the other two cases levels were in the normal range. Serum levels of carboxyterminal cross-linked telopeptide of type I collagen (3.0 +/- 0.4 ng/ml), although slightly reduced, were similar to those recorded in controls (4.1 +/- 0.3 ng ml), both in patients with active and with preclinical Cushing''s syndrome. After surgery serum levels of both marker proteins significantly increased in seven out of eight patients with active Cushing''s syndrome; in one patient, who was not cured after surgery, bone Gla proteins levels remained lower than in normals, while levels of carboxyterminal cross-linked telopeptide of type I collagen had a transient increase after six months. In the two patients with a ''preclinical'' Cushing''s syndrome who underwent surgery, a significant rise of the levels of both marker proteins was observed, similar to that observed in patients with active Cushing''s syndrome. It was concluded that serial determinations of these new markers of bone formation and resorption may be usefully employed to follow-up the clinical course of Cushing''s syndrome and provide information on the rate of bone turnover in response to medical and/or surgical therapies. Moreover, the evaluation of these markers in preclinical states of Cushing''s syndrome might suggest the need for surgery.     

Type IV renal tubular acidosis associated with Alport's syndrome.

A case of hereditary nephritis with mild reduction of renal function associated with renal tubular acidosis type IV is described. The patient was admitted with life-threatening hyperkalaemia. To our knowledge, type IV renal tubular acidosis has not been reported previously in association with Alport''s syndrome in an adult patient.     

Carcinoma of the breast in a male with hypogonadotropic hypogonadism.

There is an increased risk of development of carcinoma of the breast in males with hypogonadism due to Klinefelter''s syndrome. A patient with isolated hypogonadotropic hypogonadism and gynaecomastia developed an intraduct carcinoma of the breast. This is believed to be the first reported case of this association.     

Sheehan's syndrome presenting as psychosis: a rare clinical presentation

Sheehan''s syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan''s syndrome is often diagnosed late as it evolves slowly (2,3). Reports of psychoses in patients with Sheehan''s syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan''s syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state.     

Bing-Neel综合征1例报告并文献复习

华氏巨球蛋白血症(Waldenstrom’s macroglobulinemia,WM)是一种以骨髓或肝、脾、淋巴结内浆细胞样淋巴细胞浸润和血清中存在大量单克隆Ig M为特征的恶性浆细胞病。Bing-Neel综合征是华氏巨球蛋白血症的一种罕见的疾病表现,由恶性浆细胞样淋巴细胞浸润中枢神经系统引起。本文报道1例Bing-Neel综合征并结合相关文献就其临床表现、辅助检查及治疗原则等进行讨论。     

Schmidt's syndrome associated with sarcoidosis.

We present a case of Schmidt''s syndrome (autoimmune Addison''s disease and hypothyroidism) associated with sarcoidosis. There have been only four previous reports of Schmidt''s syndrome with sarcoidosis, and a possible fifth with negative autoantibodies. We have been able to find only four other reports of adrenal failure (without hypothyroidism) in sarcoidosis. It is important to be aware of the potential for masking the diagnosis of Addison''s disease by steroid treatment.     

Supporting relatives following a cot death.

The incidence of sudden infant death syndrome or cot death has decreased by 60 to 70% in the last 10 years. The largest decrease has been following the Back to sleep campaign in 1991. The epidemiology of cot death now emphasises its association with poverty and smoking in the home. The compassionate reception of the ''cot death'' baby and his family in the Accident and Emergency department is the first step in enabling families to come to terms with the grief that the death produces. Accident and Emergency staff can facilitate the early grieving process by an understanding of the family''s needs and the provision of appropriate information.     

Extrapulmonary lymphomatoid granulomatosis presenting as Pancoast's syndrome.

We report the case of a 55 year old man who presented as Pancoast''s syndrome associated with a left sided Horner''s syndrome, a mass in the left supraclavicular fossa and marked weakness with wasting of the left arm consistent with a left sided brachial plexus lesion. Biopsy revealed the typical features of lymphomatoid granulomatosis. Neurological involvement is a rare presenting manifestation of this uncommon disease. Lymphomatoid granulomatosis should be considered as a rare but potentially treatable cause of Pancoast''s syndrome.     

An acquired-pseudo Bernard Soulier syndrome occurring with autoimmune chronic active hepatitis and anti-cardiolipin antibody.

A case of autoimmune chronic active hepatitis with unusual extrahepatic manifestations is described. The patient exhibited marked thrombocytopenia and platelet aggregation dysfunction and morphological changes suggesting an acquired Bernard Soulier-type syndrome. This has not previously been described in association with chronic active hepatitis. The patient also demonstrated significant titres of anti-cardiolipin antibodies. This is also a new finding in association with both the liver and platelet diseases. The platelet aggregation deficit was transferable in the patient''s serum rather than being intrinsic to the platelets. The three previously reported cases of acquired Bernard Soulier are reviewed and possible mechanisms for the platelet dysfunction are discussed.