Multiple endocrine neoplasia associated with von Recklinghausen's disease.

Details were studied of three patients with duodenal carcinoid tumour in association with neurofibromatosis and phaeochromocytoma, and of four patients with duodenal carcinoid and either von Recklinghausen''s disease or phaeochromocytoma. The rarity of these endocrine tumours, together with the unusual morphological features and somatostatin content of the two duodenal carcinoids examined, suggest that this combination of tumours is not a chance association. It is suggested that this linkage of neurofibromatosis, phaeochromocytoma, and duodenal carcinoid is a specific multiple endocrine neoplasia syndrome.     

A STUDY OF SMALL BOWEL TUMORS—With Special Emphasis on Clinical Aspects

Ninety-eight patients with 100 different tumors of the small bowel were studied. There were more malignant than benign tumors. Adenocarcinoma was the commonest lesion and the ileum the most frequent anatomical site of all tumors. Except for carcinoid tumors, the lesions were observed more often in male than in female patients. The average age of patients in this series was higher than that reported in most other series. Loss of weight, and abdominal pain were the most constant symptoms. Clinical syndromes of anemia and bleeding, small bowel obstruction, biliary obstruction, perforation with peritonitis, abdominal tumor, melanosis with small bowel polyposis, and cutaneous von Recklinghausen''s disease with small bowel neurofibromatosis were encountered either alone or in combination.In the group operated upon, a resection of the involved segment with end-to-end anastomosis was done when feasible. None of the patients operated upon before 1946 lived as much as five years after operation. The most common causes of death were extension of the primary tumor and metastasis, peritonitis due to perforation, associated bronchopneumonia, and hemorrhage.     

The Proteus syndrome: the Elephant Man diagnosed.

Sir Frederick Treves first showed Joseph Merrick, the famous Elephant Man, to the Pathological Society of London in 1884. A diagnosis of neurofibromatosis was suggested in 1909 and was widely accepted. There is no evidence, however, of café au lait spots or histological proof of neurofibromas. It is also clear that Joseph Merrick''s manifestations were much more bizarre than those commonly seen in neurofibromatosis. Evidence indicates that Merrick suffered from the Proteus syndrome and had the following features compatible with this diagnosis: macrocephaly; hyperostosis of the skull; hypertrophy of long bones; and thickened skin and subcutaneous tissues, particularly of the hands and feet, including plantar hyperplasia, lipomas, and other unspecified subcutaneous masses.     

Introducing the Internet.

The benefits to medical practitioners of using the Internet are growing rapidly as the Internet becomes easier to use and ever more biomedical resources become available on line. The Internet is the largest computer network in the world; it is also a virtual community, larger than many nation states, with its own rules of behaviour or "netiquette." There are several types of Internet connection and various ways of acquiring a connection. Once connected, you can obtain, free of charge, programs that allow easy use of the Internet''s resources and help on how to use these resources; you can access many of these resources through the hypertext references in the on line version of this series (go to http:@www.bmj.com/bmj/ to reach the electronic version). You can then explore the various methods for accessing, manipulating, or disseminating data on the Internet, such as electronic mail, telnet, file transfer protocol, and the world wide web. Results from a search of the world wide web for information on the rare condition of Recklinghausen''s neurofibromatosis illustrate the breadth of medical information available on the Internet.     

Genetic Variants of von Willebrand's Disease

A specific antiserum against an antihaemophilic factor (AHF)-related plasma protein was raised in rabbits. A quantitative immunochemical method was used to determine the amount of this protein present in the plasma of 33 patients with haemophilia A and 70 patients with von Willebrand''s disease. The protein probably consisted of AHF residing in or complexed with the von Willebrand factor. The patients with von Willebrand''s disease were shown to fall into two separate genetic groups, one with decreased and one with normal amounts of the AHF-related protein. The patients with haemophilia A had normal amounts of the protein in their plasma.     

Abdominal aortic aneurysm. Incidence in a hospital population at risk.

The incidence of abdominal aortic aneurysms has been studied in various selected patient groups. In this study, 100 male patients on a cardiology service who were older than 60 years and over 170 cm (5 ft 7 in) tall were examined by abdominal ultrasonograms. A total of 11 aneurysms were found, 2 of which were more than 4.5 cm in diameter. Other abnormalities that were found included renal disease in 20 patients (1 carcinoma treated with a curative nephrectomy), gallbladder disease in 22 patients, and miscellaneous intra-abdominal disease in 6 patients; 47 patients had no abnormalities found. The aneurysms of these patients were classified by a patient''s height in 5-cm (2-in) increments. No significant difference in the incidence of aneurysms was found within the groups, but these groups are small and a significant difference would not be expected. It is of interest that the two large aneurysms were in persons taller than 180 cm (5 ft 11 in). Previous ultrasonographic studies of aneurysmal incidence have not reported other intra-abdominal disease.     

Retroperitoneal fibrosis associated with Riedel's struma

A case of retroperitoneal fibrosis with bilateral ureteral obstruction in association with Riedel''s struma of the thyroid is reported. There has been a definite increase in incidence of retroperitoneal fibrosis, but with prompt recognition and adequate treatment the mortality rate has been decreased from the original 14%. The association of Riedel''s struma with retroperitoneal fibrosis has been noted in the past and its association with sclerosing cholangitis has also been mentioned. It is not known whether Riedel''s thyroiditis originates in the thyroid gland and spreads or whether true thyroiditis is part of a generalized process. The temporal relationship of thyroiditis and retroperitoneal fibrosis suggests an extension of fibrosis from the thyroid, but one cannot be sure which condition occurred first. Whatever the cause, the treatment remains the same as for retroperitoneal fibrosis from other causes.     

A rare case of multiple aneurysms in a young patient

Multiple aneurysms are clinically common in population aged over sixty and are caused mainly by atherosclerosis. When occurring in young population other etiologies such as trauma, infections, Bechet's disease, Marfan syndrome, neurofibromatosis or inflammatory disease are responsible for the development of arterial aneurysms. A rare case of multiple aneurysms in a 40-year-old man, affecting the infrarenal part of abdominal aorta, both iliac arteries, common femoral arteries, left femoral superficial and popliteal arteries on, both legs, is reported. The underlying pathology was progressive atherosclerosis, favored by familial hyperlipidemia and excessive cigarette smoking.     

Fingerprint Patterns in Huntington's Chorea and Parkinson's Disease

In the course of a continuing search for means of predicting Huntington''s chorea before the onset of neurological symptoms, a study of fingerprint patterns was undertaken, using the technique employed by Hodges and Simon in the investigation of patients with Wilson''s disease. Fingerprint patterns of 61 patients with Huntington''s chorea and 50 with Parkinson''s disease were compared with norms established by Scotland Yard. Although an increased incidence of the “whorl” pattern was seen in the left second and third fingers in patients with Huntington''s chorea, this finding could not be interpreted as having diagnostic or prognostic value as it was found also in some normal subjects and in occasional cases of Parkinson''s disease. The pattern supposedly characteristic of Wilson''s disease was also seen in persons with Huntington''s chorea.     

Diffuse large B cell lymphoma presenting as Horner's syndrome in a patient diagnosed with neurofibromatosis type 1: a case report and review of the literature

Introduction

Horner's syndrome has a variety of etiologies ranging from benign to serious life-threatening conditions and has been infrequently reported as a presenting symptom of patients with lymphoid neoplasms. Only one case of Burkitt's lymphoma presenting with toothache, paresthesia, and Horner's syndrome has been described and no case reports of diffuse large B-cell lymphoma as the etiology of Horner's syndrome currently exist in the literature. In addition, lymphoid neoplasms have rarely been reported to occur in patients with neurofibromatosis type 1 despite an increased risk of many types of cancer in such cases.

Case presentation

A 28-year-old Thai man presented with a progressively enlarged left supraclavicular mass together with a significant weight loss and night sweating for four months. He also noticed hoarseness and ptosis of his left eye associated with double vision for two months. Physical examination revealed large supraclavicular lymphadenopathy and Horner's syndrome (ptosis, miosis, and anhydrosis) on the left side of his face. A large mediastinal mass was clearly detected by chest X-ray and computed tomography and subsequent lymph node biopsy provided a diagnosis of diffuse large B-cell lymphoma. Interestingly, the patient was also definitely diagnosed with neurofibromatosis type 1 from multiple café au lait macules, axillary freckles, three neurofibromas, multiple Lisch nodules, and a history of affected family members. He subsequently received chemotherapy with a good response. Twenty-seven cases of various types of lymphoid neoplasms previously reported to occur in neurofibromatosis type 1 patients were also extracted from the literature. All cases were non-Hodgkin lymphoma and the major subtype was T-cell. Only nine cases were B-cell lymphoma. The majority of cases were young with a median age at lymphoma diagnosis of 9.4 years (range 1.1 to 77 years). Two-thirds of the cases were boys or men. Other concomitant malignancies were brain tumor, colorectal cancer, pheochromocytoma, and acute lymphoblastic leukemia.

Conclusions

We describe for the first time a case of diffuse large B-cell lymphoma that occurred in a neurofibromatosis type 1 patient with Horner's syndrome. Horner's syndrome can be an initial manifestation of diffuse large B-cell lymphoma. Patients who present with a classical triad of Horner's syndrome should always be fully investigated for lymphomatous involvement, especially in the thorax. The exact molecular mechanism for diffuse large B-cell lymphoma development in neurofibromatosis type 1 cases remains to be elucidated.     

Upper gastrointestinal Kaposi's sarcoma in patients positive for HIV antibody without cutaneous disease

Six patients with antibodies to the human immunodeficiency virus (HIV) and with persistent gastrointestinal symptoms of HIV infection but without cutaneous lesions of Kaposi''s sarcoma underwent endoscopy. Four also underwent barium meal examination. In all six cases small lesions were seen in the stomach at endoscopy, and histological examination of biopsy specimens taken from the lesions confirmed the diagnosis of Kaposi''s sarcoma. The barium meal examinations were reported as normal in three patients and showed oesophageal candidiasis in the fourth.These findings suggest that Kaposi''s sarcoma of the upper gastrointestinal tract is common in patients positive for HIV antibody, even those without cutaneous lesions. Endoscopy, with biopsy of suspicious lesions, is necessary to make the diagnosis and is recommended in all HIV antibody positive patients with persistent upper gastrointestinal symptoms.     

THE Q WAVE IN L III AND aVF OF THE ELECTROCARDIOGRAM—A Vectorcardiographic Analysis With the Use of the Frank System

Seventy-three consecutive patients with a Q wave in Lead III and aVF in the electrocardiogram were studied. Vectorcardiograms were recorded with the use of the Frank system.In 32 cases the ECG''s were compatible with the diagnosis of an inferior myocardial infarction based on a Q wave in Lead III and/or aVF greater than 0.04 second duration and greater than 25 per cent of the amplitude of the R wave. In this group, there were 16 patients with coronary disease and the VCG confirmed the electrocardiographic diagnosis of an infarction in 14 cases. In 13 of the other 16 cases without history of coronary disease the VCG did not suggest the presence of an infarction.In all 17 cases with questionable electrocardiographic diagnosis of an inferior infarction, and without history of coronary disease, the VCG denied the presence of an infarction. In 18 cases with small Q III or Q aVF the VCG''s were within normal limits. In two cases with normal Q III and Q aVF the VCG''s did not detect the presence of an infarction in both cases.The vectorcardiographic diagnosis of an inferior myocardial infarction was based on the superior orientation (at or above 360 degrees) of the 10, 20, 25 and 30-msec vectors in the frontal plane, superior displacement of the maximum QRS vector and clockwise rotation. In the left sagittal plane the 10, 20, 25 and 30-msec vectors were oriented at or above 180 degrees with the loop rotating counterclockwise.The data presented suggest that vectorcardiography is a useful adjunct to electrocardiography in the diagnosis of an inferior myocardial infarction.     

Cerebrovascular disease in children

The stroke syndrome in adults encompasses a limited number of lesions occurring over an extended age-span. In children the syndrome includes a wide variety of lesions seen in only one and one-half decades. This general review examines common aspects of the syndrome as it is seen in children. Attention is paid to cerebrovascular occlusive disease, arteriovenous malformations, intracranial aneurysms, spontaneous intracerebral hematomas and cerebrovascular complications of cardiac surgery. Conclusions are based on the authors'' experience in treating patients in the Hospital for Sick Children, Toronto     

Imagerie moléculaire nucléaire des paragangliomes

Paragangliomas (PGL) are relatively rare neural crest tumors originating in the adrenal medulla (usually called pheochromocytoma), chemoreceptors (i.e., carotid and aortic bodies) or autonomic ganglia. These tumors are highly vascular, usually benign and slow-growing. PGL may occur as sporadic or familial entities, the latter mostly in association with germline mutations of the succinate dehydrogenase (SDH) B, SDHC, SDHD, SDH5, von Hippel-Lindau (VHL), ret proto-oncogene (RET), neurofibromatosis 1 (NF1) (von Recklinghausen's disease), prolyl hydroxylase domain protein 2 (PHD2) genes and TMEM127. Molecular nuclear imaging has a central role in characterization of PGL and include: somatostatine receptor imaging (¹¹¹In, ⁶⁸Ga), MIBG scintigraphy (¹³¹I, ¹²³I), ¹⁸F-dihydroxyphenylalanine (¹⁸F-DOPA) positron emission tomography (PET), and ¹⁸F-deoxyglucose (¹⁸F-FDG) PET. The choice of the tracer is not yet fully established but the work-up of familial forms often require the combination of multiple approaches.     

A Screening Test for Wilson's Disease and its Application to Psychiatric Patients

Varied modes of onset make the early diagnosis of Wilson''s disease difficult. A deficiency of serum ceruloplasmin, usually characteristic of the disease, was used as the basis for a screening test. Simple test materials and provision for handling about 50 plasma samples simultaneously made this test feasible for large-scale screening.The screening test was applied to 336 persons hospitalized for psychiatric disorders, to detect patients with Wilson''s disease before the classical symptoms appeared. Two patients with ceruloplasmin levels below the normal limits were detected but did not have Wilson''s disease. Further application of the screening test to relatives of patients known to have Wilson''s disease and to individuals with any symptoms of the disease (hepatic disease, extrapyramidal dysfunction, psychiatric disorders, behaviour problems in children) would aid in early diagnosis and more effective treatment.     

Detection of Alzheimer's disease and dementia in the preclinical phase: population based cohort study

ObjectivesTo evaluate a simple three step procedure to identify people in the general population who are in the preclinical phase of Alzheimer''s disease and dementia.DesignThree year population based cohort study.SettingKungsholmen cohort, Stockholm, Sweden.Participants1435 people aged 75-95 years without dementia.AssessmentsSingle question asking about memory complaints, assessment by mini-mental state examination, and neuropsychological testing.ResultsNone of the three instruments was sufficiently predictive of Alzheimer''s disease and dementia when administered separately. After participants had been screened for memory complaints and global cognitive impairment, specific tests of word recall and verbal fluency had positive predictive values for dementia of 85-100% (95% confidence intervals range from 62% to 100%). However, only 18% of future dementia cases were identified in the preclinical phase by this three step procedure. Memory complaints were the most sensitive indicator of Alzheimer''s disease and dementia in the whole population, but only half the future dementia cases reported memory problems three years before diagnosis.ConclusionThis three step procedure, which simulates what might occur in clinical practice, has a high positive predictive value for dementia, although only a small number of future cases can be identified.

What is already known on this topic

Alzheimer''s disease is characterised by a preclinical phase, during which cognitive deficits are seen before diagnosisElderly people with subjective memory complaints and objective global cognitive impairment have a high risk of developing Alzheimer''s disease and dementia

What this study adds

This three step procedure (self report of memory complaints, test of global cognitive functioning, and then domain specific cognitive tests) has a positive predictivity of 85-100% for Alzheimer''s disease and dementia at three yearsHowever, only 18% of people in the preclinical phase can be identified using this procedureAbout half of the people in the preclinical phase of Alzheimer''s disease and dementia do not report problems with their memory three years before diagnosis     

Growth on an arteriovenous malformation: a case report

A case of an intracerebral arteriovenous malformation that grew is presented. On the initial arteriogram only one early filling vein was seen in the region where a large arteriovenous malformation was present eight years later. The patient''s headaches were relieved by antihypertensive medications. The authors speculate that distension of the AVM caused the headaches.     

Alzheimer's disease: current knowledge,management and research

Alzheimer''s disease is a common neurological condition, appearing as early as age 40 but increasing dramatically in incidence over age 85. Different genetic factors are at play, modified by events over a lifetime. Clinical diagnosis is possible through careful history taking with a reliable informant and a minimum number of laboratory tests. A relatively predictable natural history can be observed, with progression through stages of cognitive loss, functional impairment and behavioural disinhibition or apathy. New medications such as donepezil offer hope for improving or stabilizing symptoms. Such treatment can be administered by primary care physicians with experience in the diagnosis and management of Alzheimer''s disease. Disease stabilization, or even prevention, may be possible in the future.     

小肠CT及双气囊小肠镜诊断克罗恩病患者的差异性分析

目的:探究小肠CT及双气囊小肠镜诊断克罗恩病患者的差异性。方法:选择2017年4月至2019年3月于我院接受治疗的60例克罗恩病患者,分别实施小肠CT及双气囊小肠镜检测,对比两种检测方式对克罗恩病患者诊断准确率及病变范围、病变位置、活动度和并发症的检测差异。结果:CT检出克罗恩病的准确率96.67%,双气囊小肠镜检出克罗恩病的准确率为93.33%,其差异无统计学意义(P>0.05)。小肠CT主要表现为肠腔狭窄50例(83.33%),肠壁增厚52例(86.67%),肠外淋巴结46例(76.67%),肠系膜水肿及血管改变21例(35.00%),肠外炎症10例(16.67%),瘘管3例(5.00%),瘘道1例(1.67%);双气囊小肠镜表现为环形溃疡、不规则溃疡、环状溃疡等共计46例(76.67%),阿弗他溃疡22例(36.67%),黏膜充血、水肿等26例(43.33%),结节样增生6例(10.00%),小肠肠腔节段性狭窄16例(26.67%),假性息肉9例(15.00%);经病理学检测表现为淋巴细胞、中性粒细胞、嗜酸性粒细胞等炎性浸润,淋巴组织及肉芽组织出现增生小肠CT发现肠外炎症、瘘道、瘘管等合计14例,而双气囊小肠镜未发现并发症。结论:相比于双气囊小肠镜,小肠CT能够更为准确的判断克罗恩病患者是否处于炎症状态,也能够更有效的发现肠外并发症的存在,但小肠CT及双气囊小肠镜联合应用监测效果更佳。