Common Early Finding Research Articles

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

A novel form of congenital muscular dystrophy in four unrelated patients is proposed. Congenital hypotonia, markedly increased CK, calf pseudohypertrophy and proximal weakness were common early findings. Two cases were severely affected since infancy and never walked. The phenotypical homogeneity was not very evident until advanced stages of the disease. All the patients showed catastrophic progression of the weakness, severe restrictive respiratory insufficiency, macroglossia, peculiar extreme amyotrophy of hands and feet, and a round and ‘puffy’ face. All patients became tetraplegic and required mechanical ventilation. Two cases had signs of mild cardiac involvement. The only non-tracheotomised patient died of respiratory complications. No mental retardation or specific brain abnormalities were observed. All patients showed secondary deficit of laminin α2 and up-regulation of laminin α5 in muscle. Expression of α-dystroglycan was severely reduced in two available muscle samples. The known loci for congenital muscular dystrophies were excluded in the only consanguineous case by linkage analysis. Clinical, immunohistochemical and genetic findings strongly suggest a distinct entity.

Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread cutaneous and visceral hamartomas. The prevalence of cutaneous lesions in 106 children with TSC (47 boys and 59 girls) aged 1 month-18 years was evaluated from 1984 to 1995. Assessing the diagnostic usefulness of each National Tuberous Sclerosis Association skin criterion was an aim of this study. Hypopigmented macules were the most frequent finding, seen in 103 of 106 children (97.2%). In 66 children they were evident at birth, and in 20 others their presentation was delayed until the first months of age. Facial angiofibromas were seen next most often (79 of 103, 74.5%), followed by a shagreen patch in 51 of 103 (48.1%), "cafe-au-lait" macules in 30 of 103 (28.3%), molluscum fibrosum pendulum (24 of 103, 22.6%), a forehead fibrous plaque (20 of 103, 18.9%), periungual fibromas (16 of 103, 15.1%) and "confetti-like" macules (3 of 103, 2.8%). The hypomelanotic macules were seen within the first 2 years of life in 95 children, as were café-au-lait spots in 24, facial angiofibromas in eight, shagreen patches in six, and forehead fibrous plaques in six, whereas molluscum pendulum and periungual fibromas were not evident. Seizures were seen in 102 of 106 children (98%), with 80 (75%) occurring during the first year of life. Hypomelanotic macules were the overwhelmingly most common early finding in TSC. Infants with seizures or other possible stigmata of TSC should be carefully evaluated for these hypomelanotic macules, as well as for other associated findings.

Shoulder impingement syndrome: MR findings in 53 shoulders.

The shoulder impingement syndrome refers to a condition in which the supraspinatus tendon and subacromial bursa are chronically entrapped between the humeral head inferiorly and either the anterior acromion itself, spurs of the anterior acromion or acromioclavicular joint, or the coracoacromial ligament superiorly. As a result, the space for the bursa and tendon is reduced, and repeated trauma to these structures leads to bursitis and rotator cuff injury. Although pain and limitation of motion are common early findings, the diagnosis is often delayed until a complete tear of the rotator cuff has occurred. In an attempt to determine if MR can be used to depict the abnormalities associated with impingement syndrome (subacromial bursitis, supraspinatus tendinitis, and rotator cuff tear), we reviewed 107 MR scans of painful shoulders. Changes consistent with impingement syndrome were found in 53 patients (50%), 32 of whom underwent subsequent arthrography or surgery. MR was found capable of depicting several soft-tissue and bony abnormalities that have been clinically described in impingement syndrome. In regions of inflammation, we found that the supraspinatus tendon and/or the subacromial bursa were compressed by spurs (25 shoulders), capsular hypertrophy of the acromioclavicular joint (six shoulders), and/or low-lying acromion (14 shoulders). While T1-weighted MR imaging was highly sensitive to abnormalities of the supraspinatus tendon, tendinitis could be differentiated from a small tear of the supraspinatus tendon only with T2-weighted imaging. Large, full-thickness tears, especially if chronic, produced characteristic MR findings on both T1- and T2-weighted images. We conclude that MR can be used to detect several abnormalities associated with the shoulder impingement syndrome.

The plain chest radiograph after acute smoke inhalation

Serial chest radiographs of 45 patients from a major fire disaster were assessed for the effects of smoke inhalation injury. Thirty-three had abnormal chest radiographs on admission. Bronchial wall thickening was present in a total of 29 patients, subglottic oedema in 13, pulmonary oedema in seven, and patchy consolidation in three. Seven patients developed pulmonary oedema following initial exposure. This was the cause of death in two patients. Serial chest radiographs were useful in monitoring this very severe complication. Bronchial wall thickening and subglottic oedema were common early findings and thus may herald more serious subsequent respiratory embarrassment. Subglottic oedema is a previously undescribed finding. It not only indicates damage to the upper airways but may also indicate damage to the lung parenchyma. It may also make endotracheal intubation difficult. Therefore, the initial chest radiograph is an important predictor of significant smoke inhalation injuries enabling selection of patients likely to need ventilatory support.

Responses of coronary arteries of cardiac transplant patients to acetylcholine.

Accelerated coronary atherosclerosis is a major cause of graft failure after heart transplantation. Graft atherosclerosis is typically diffuse and difficult to detect even with coronary arteriography. Recently, acetylcholine was shown to dilate blood vessels by releasing a vasorelaxant substance from the endothelium (endothelium-derived relaxing factor). We have demonstrated paradoxical vasoconstriction induced by acetylcholine both early and late in the course of coronary atherosclerosis in patients, suggesting an association of endothelial dysfunction and atherosclerosis. In this report, we tested the hypothesis that coronary arteries of heart transplant patients can show endothelial dysfunction before or in the early stages of angiographically evident coronary atherosclerosis. Acetylcholine was infused into the left anterior descending artery of 13 heart transplant patients at 12 (n = 9) and 24 (n = 4) mo after transplantation. Vascular responses were evaluated by quantitative angiography. Among patients with angiographically smooth coronary arteries, relatively few (6/25) arterial segments had preserved vasodilator responses, while the majority failed to dilate (10/25) or paradoxically constricted (9/25). Angiographically irregular coronary arteries were present in three patients, in whom 8/10 segments showed marked paradoxical constriction and the remaining 2/10 failed to dilate. Only 1 of 13 patients retained appropriate dilation to acetylcholine in all segments. Nitroglycerin, which acts directly on vascular smooth muscle, dilated nearly all segments. No clinical features of the patients, including myocardial rejection appeared to correlate with the impaired functional response of vessels. Thus impaired response to acetylcholine is a common early finding in heart transplant patients and emphasizes the potential importance of endothelial dysfunction in the development of atherosclerosis.

An Adult Form of Juvenile Rheumatoid Arthritis

The conditions of five adults were eventually diagnosed as juvenile rheumatoid arthritis (Still's disease). Prolonged hospitalization, repetitive roentogenographic examinations, biopsies, laparotomies, and therapeutic trials with toxic agents preceded the establishment of the final diagnosis. Common early findings in all cases were prolonged "septic fever," polyarthralgia, and an elevated ESR. Three patients had a rash, four had splenomegaly, three had a vague history of a similar disease, and four had leukocytosis. Some of the patients were older than others described in the literature. Two received immunosuppressive agents and did relatively well. In view of our experience and the few reports in the literature, we concluded that juvenile rheumatoid arthritis in adults has to be seriously considered in the presence of prolonged septic fever, polyarthralgia, rash, and splenomegaly, before harmful drugs are given or risky procedures are performed.

Fine structure of alveolar areas in the lung following inhalation of 239PuO2 particles.

Rats exposed to 239PuO2 aerosol showed a progressive increase in number and in detachment of type 2 alveolar epithelial cells. Large numbers off lipid droplets were found in septal cells by 30 days. A large exudate comprised of myeloid bodies, cell debris, and a protein-like material was found in the alveolar lumens at 20 days. This stage was followed by an accumulation of histiocytes, which engulfed a large part of the exudate. Destruction of endothelium and accumulation of septal cells, collagen, and elastin were common early findings. Alveolar septa were greatly thickened by 40 days due to edema, connective tissue formation, and accumulation of septal, mast, and plasma cells. Damage to type 1 alveolar epithelium was commonly seen only in the terminal phase of radiation pneumonitis.