Sixteen patients with progressive diaphyseal dysplasia (PDD) and aged six months to 76 years were examined. Fourteen cases were hereditary, two were not. The progression of the radiologic manifestations in 13 patients who were followed up from 1 to 32 years and the computed tomography (CT) scans from five patients were obtained. The progression of PDD was slow and unpredictable, from minimal endosteal thickening of the mid-diaphyses in one pair of long bones to severe sclerosis of long bones, skull, and vertebrae. The severity of the osseous changes was not age dependent. A six-stage system was used to grade the severity of involvement and progression of PDD. CT scans demonstrated muscle mass that was preserved and showed the distribution of the osteosclerotic process, which was irregular and inhomogeneous. CT scanning was advantageous over plain radiography in this respect. Endosteal involvement was more extensive than periosteal thickening. CT scans also showed a distinct pattern of vertebral sclerosis that was confined to the posterior areas of the vertebral body and arches. In light of the paucity of characteristic clinical signs of PDD, the recognition of the radiologic features is mandatory for the diagnosis of this disease.
A 7-year-old boy suffering from aortic regurgitation and mitral stenosis and regurgitation was admitted with endocarditis caused by Rhodotorula pilimanae and was treated successfully with orally administered antifungal agent, namely 5-fluorocytosine (5-FC). A dose of IOO mg per kg body weight, divided into four equal parts, was prescribed. After a prolongedfebrile period his temperature dropped to normal on thefourth day of 5-FC therapy. Review of the published reports disclosed few cases of endocarditis due to Rhodotorula spp. and this case seems to be the first treated with 5-FC. Follow-up in one year, after discharge from the hospital, revealed no evidence of relapse. Cardiac impulse was maximal at the apex, and visible outward pulsations at that area were noted.At the apex, M1 was diminished and a third sound was heard. A grade 3/6 pansystolic murmur radiating to the left axilla and a grade i/6 short diastolic murmur were heard as well. At Erb's area, a grade 2/6 ejection type systolic murmur and a grade I/6 early diastolic murmur were heard. The liver was palpable 3 cm below the right costal margin but the spleen was not palpable. No joint involvement was observed on admission, but on the following day he complained of pain in the knees and ankles, and the left ankle was mildly swollen and hot. These complaints continued for three days. Funduscopic examination was normal. Laboratory examination revealed a haemoglobin of 9 g/ioo ml, with slight hypochromia, and white blood cell count (WBC) of 19,400/mm3 of which 3 per cent were band forms and 78 per cent were segmented neutrophils. Urine analysis normal. Throat swab negative. Erythrocyte sedimentation rate (ESR) I25 mm in the first hour (Westergren). Blood urea nitrogen 23 mg/IOO ml. Total protein was 7-I g/IOO ml, of which albumin was 3.9 g/ioo ml and globulin was 3-2 g/ioo ml. Blood serological tests were negative. C-reactive protein + + +. Antistreptolysin-0 titre was 256 Todd units and 5I2 three days later. Multiple blood and urine cultures were negative.An electrocardiogram showed normal sinus rhythm, normal PR interval, QRS axis + 300, and signs of hypertrophy of left atrium and ventricle. Chest x-ray disclosed an enlarged heart silhouette, with straightening of the left border, raised left main bronchus, and signs of venocapillary hypertension. The barium-filled oesophagus was indented by the left atrium and there was enlargement of the left ventricle.
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