Differential diagnosis: use and abuse.
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Biomedical subjects
Publications and source records attributed to G B Stickler.
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Between January 1956 and July 1981, 40 patients with Klippel-Trenaunay syndrome were seen at the Mayo Clinic. Twenty male and 20 female patients presented with the classic triad of soft tissue and bony hypertrophy of the extremity, hemangioma, and varicosity without evidence of functional arteriovenous fistulae. The lower extremity was involved in 38 patients (95%), the upper extremity in six patients (15%). In four of these cases (10%), both the upper and lower extremities were affected. The disease was unilateral in 34 patients (85%), bilateral in five cases (12.5%), and crossed-bilateral in one case (2.5%). Surgery was done in 13 patients (32.5%), nine of whom were operated on at the Mayo Clinic and four of whom had had previous surgery elsewhere. Excision and stripping of varices were performed in three patients; of these three, a deterioration of symptoms was observed in one, but the procedure was beneficial in the other two. Partial varicectomy was performed in four cases, while resection of the angioma was attempted in eight cases, with good results in three cases of small angiomas. Femoral and tibial epiphysiodesis stopped the overgrowth and produced an excellent result in one case. In four cases of epiphysiodesis at the foot level and two cases of derotational tibial osteotomy, moderate improvement was achieved. The indication for vascular or orthopedic surgery should be carefully considered in each patient who has this syndrome. One patient (2.5%) died of a severe form of the disease, but the relatively benign course is documented by the 21 patients (52.5%) who are free of complaints without any treatment or with elastic support only.
Essential hypertension in children is difficult to define and is probably very rare. Of 44 children and adolescents diagnosed between 1966 and 1980 to have essential hypertension, we found that only 8 patients continued to be hypertensive, 3 patients turned out to have secondary hypertension and only 5 patients continued to have elevated blood pressures. The incidence of obesity was high in our patients initially diagnosed to have hypertension, but had normalized their weight at the time of reevaluation. The patients with sustained hypertension had initial diastolic blood pressures over 90 mm of mercury at an age of under 12 years and over 100 mm of mercury when older than 12 years of age.
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Current information relating to the clinical significance of proteinuria in children through adolescence was reviewed. Proteinuria may be transient, orthostatic, or fixed. The data indicate that only fixed proteinuria-that is, proteinuria on multiple urine examinations without postural exaggeration-may indicate serious glomerular disease. The patient should be followed with periodic but infrequent examinations, avoiding unnecessary, complicated, and hazardous investigations.
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Records of 34 hyperventilating children aged 18 years or younger seen at the Mayo Clinic over a 25-year period were reviewed. Five different clinical subtypes were identified. Evaluation and treatment varied considerably. At follow-up, 40% were still hyperventilating as adults, and many had signs and symptoms of chronic anxiety. Hyperventilation in childhood can be a signal that the child is experiencing severe anxiety, which may persist into adulthood.
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The relations among renal function, proteinuria, and glomerular lesions were studied in 54 patients with reflux nephropathy. The clinical course to end-stage renal disease was not appreciably altered by late surgical correction of the reflux, occurrence of urinary tract infection, or hypertension. All patients with progressive renal disease had significant proteinuria. Mesangial glomerular lesions can occur in the absence of proteinuria detectable by routine analysis, whereas lesions similar to those seen in idiopathic focal sclerosing glomerulopathy were present in the renal biopsies from proteinuric patients. Deposition of immunoproteins was limited to glomeruli undergoing sclerosis. Similarly, electron-dense deposits were confined to areas of mesangial alterations. Our results suggest that mesangial alterations occur early in the course of reflux nephropathy and may lead to the development of focal sclerosis. At later stages, counterproductive mechanisms of adaptation to the loss of viable nephrons might result in an acceleration of the clinical course to renal failure.
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A long-term follow-up study (minimum of five years) of 161 children with recurrent abdominal pain disclosed that three had organic disease and that was missed--inflammatory bowel disease. Anorexia nervosa developed in one patient. Three fourths of the patients recovered from the initial symptom; most recovered within a few weeks; but some patients continued to have complaints for a number of years. Approximately 20% of patients underwent additional surgical or medical treatments of doubtful necessity. In 18% of patients, other psychosomatic symptoms developed.
Urinary tract infection (UTI) is a fairly frequent occurrence in children. Diagnosis should be made quickly and accurately by Gram staining and culture of an uncontaminated urine specimen. A first, uncomplicated UTI should be treated with sulfonamides or nitrofurantoin. Careful follow-up is necessary because of the high risk of recurrence. Sensitivity studies and specific antimicrobial therapy are indicated in any patient with recurrence and in patients with anatomic urinary tract abnormalities. Long-term prophylaxis may be needed.
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A mother-daughter kindred with carpal-tarsal osteolysis and evidence of renal involvement is presented. There was a similarity between the early clinical manifestations of this syndrome and those of rheumatoid arthritis. The distinction made in previous reports between the dominantly inherited form and the sporadic form with nephropathy is questioned.
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