Marshall-Smith Syndrome: Case Report

Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea.

Serial MR findings of Metaphyseal Cyst in Legg-Calve'-Perthes Disease: A Case Report

Metaphyseal cysts are common findings in Legg-Calv Perthes(LCP) disease, though usually disappear within 6-12 months. Several studies have described the MR imaging findings of these cysts, though serial MRI findings have not been documented. In this report, therefore, we report the serial MRI results of metaphyseal cyst in LCP patients.

Cranial Fasciitis in a Child: A Case Report

Cranial fasciitis is a rare fibroblastic tumor which shows a predilection for the scalp and skull of youngchil-dren. Histologically, cranial fasciitis is identical to nodular fasciitis which is typically found in theextremities of adults, though is unique in that it may present as an osteolytic lesion of the skull. We report acase of cranial fasciitis in a 20-month-old girl, describing the ultrasonography, CT and MRI findings.

Measurement of Necrotic Portion in Legg-Clave-Perthes Disease: Comparison of MRI Volume Measurement Method andCatterall Classification

PURPOSE: The purpose of this study was to evaluate the extent of necrosis of the femoral head inLegg-Clave-Perthes (LCP) disease. This involved the use of MRI, followed by volume measurement and the use of theCatterall classification system; the difference between the grade obtained using each of these approaches was thendetermined. MATERIALS AND METHODS: We retrospectively reviewed 28 hip-joint MR images on which a diagnosis of LCPdisease had been based. According to the necrotic portion of femoral head, and on the basis of the catterallclassification, LCP was graded 1 to 4, as follows: Grade I=0~ <25%; II=2 5~ <50%; III=50~ <75; IV=75-100%. Using atransparent paper on which 1mm squares had been drawn, the necrotic area of each MR image was measured; thefollowing equation was then used to calculate the volume of the necrotic portion: volume=necrotic area x slicethickness. On the basis of this measurement, each femoral head was graded and the results were compared with thoseobtained using the Catterall classification. RESULTS: In 24 joints(85.7%), grades according to the Catterallclassification and MRI volume measurement were not the same. As compared with the volume measurement method, useof the Catterall classification led to grade overestimation in 18 joints (64.3%) and underestimation in six(21.4%). CONCLUSION: The grade according to the Catterall classification was different from that obtained usingthe volume measurement method. This study thus indicates the need for a new system of classifying LCP diseasebased on the volume measurement method and using MR imaging.

Proteus Syndrome: A Case Report

Proteus syndrome is a rare congenital hamartomatous condition with a variety of abnormalities affecting allthree germ layers including overgrowth of various parts of the body, hemihypertrophy, unusual skeletalmalformation, skin lesions, and various tumors. I describe the radiologic findings in a 12 year-old boy withProteus syndrome. Computed tomography and magnetic resonance imaging are very useful for the specific diagnosis.

The Normal Development of Proximal Humeral Epiphyseal Ossification Center in the First 2 Years of Life

PURPOSE: To ascertain the normal maturation of proximal epiphyseal ossification centers by monthly age duringthe first two years of life. MATERIALS AND METHODS: The distribution of age was 0 to 24 months. Six hundred andseventy-five infants were male and 436 were female;their ages were measured in months, and there was no evidenceof developmental problems. Proximal humeral epiphyseal ossification centers were evaluated from chestradiographs;if not visualized, they were graded as 0, and otherwise, as follows:Grade 1:visualized with poormargin or a diameter of less than 1/4 of metaphyseal width; Grade 2: visualized with good margin or a diameter ofmore than 1/4 of metaphyseal width;in grades 3 and 4, two ossification centers were visualized. Grade 3 indicatedthat one ossification center had the morphology of grade 2 and the other of grade 1, while in grade 4, bothossification centers were morphologically grade 2. Grade 5 indicated that two ossification centers were fused. Wethen assessed the relationship between the development of an ossification center and monthly age. RESULTS: Inmale children, modes were as follows:0 month, 0;1 month, 0 and 1;2-4 months, 1;5 months, 2;6 months, 1; 7-12months, 2;13-16 months, 3;17 months, 4;18 months, 2;19 months, 3 and 4;20-21 months, 4;22 months, 2 and 3; and23-24 months, 4. In female children, they were as follows:0 month, 0; 1-3 months, 1; 4 months, 2;5 months, 3;6months, 1; 7 months, 4;8 months, 3;9 months, 3 and 4;10 months, 4;11 months, 3;and 12-24 months, 4. In malechildren, mean ages were as follows:grade 0, 0.7 months; grade 1, 3.5 months;grade 2, 10.2 months;grade 3, 14.4months; grade 4, 18.1 months; and grade 5, 24 months. In female children, these means were as follows: grade 0,0.3 months; grade 1, 2.7 months; grade 2, 7 months; grade 3, 10.1 months; grade 4, 15 months; and grade 5, 20.8months. CONCLUSION: A proximal humeral epiphyseal ossification center shows regular maturational featuresaccording to monthly age.

Bone Changes in Phenylketonuria

PURPOSE: While treating 14 phenylketonuria(PKU) patients, we evaluated bone density, changes in bone age, andbony changes such as spiculation or metaphyseal widening. MATERIALS AND METHODS: A total of 14 PKU patients agedbetween 1 month and 14 years(mean, 6.4 years) were under dietary treatment. Eight and eleven patients underwentradiography of the left hand and wrist and bone densitometry(BMD) of the lumbar spine, respectively. The resultswere reviewed with regard to abnormal bony changes, delayed bone age, and osteopenia. Patients were assigned toeither the early or late treatment group, depending on whether or not dietary therapy was started before 3 monthsof age. Those in whom a blood phenylalanine level of under 10 mg/dl was maintained were assigned to the 'goodcontrol' group; others were classified as 'variable control'. The findings of radiographs of the left hand andlumbar BMD were evaluated in relation to the time of dietary therapy, and adequacy of treatment. RESULTS: Onlumbar BMD, four of 11 patients (36%) showed reduced bone density of more than 1 S.D. None of the 11 who underwentradiography of the left hand showed bony abnormalities such as spiculation or metaphyseal widening. In four of the11, bone age was less than chronological age by at least one year. According to Fisher's exact test there was norelation between delayed bone age , osteoporosis and the time and adequacy of dietary therapy (p >0.05). CONCLUSION: None of the 14 PKU patients who underwent dietary therapy had bony abnormalities such as spiculationor metaphyseal widening. In four of the 11, bone age was at least one year less than chronological age, and onlumbar BMD, osteoporosis was seen. For the evaluation of bone change in PKU patients, plain radiography and BMDare thus complementary.

Craniometaphyseal Dysplasia: A Case Report

Craniometaphyseal dysplasia is a rare genetic bone disorder characterized by cranial hyperostosis, sclerosis, and failure of normal modeling of the tubular bones. Both autosomal dominant and recessive forms have been described. Diagnosis of the craniometaphyseal dysplasia is mode on the basis of characteristic radiographic findings. Radiologic findings are thickening and hyperostosis of the skull, and Erlenmeyer flask deformity of the metaphysis on the long bones. We report a case of the craniometaphyseal dysplasia.

Standard Bone-Age of Infant and Children in Korea

To evaluate the developmental status of children and adolescents, bone-age chart based on the radiograph of hand and wrist has been used in many countries. The bone-age reflects not only the functional status of various hormones but also the influence of chronic disease, and it has been used more widely than other indices such as height-weight-age table. As the standard bone-age chart has not been established in Korea, the foreign bone-agechart has been used radiographs in the clinics. To make Korean standard bone-age chart, we took the radiographs ofthe left hand in about 5400 children covering the whole country, and 3407 radiographs of 1830 boys and 1577 girls ranging from two months to 16 years of age were selected and analyzed for bone maturity scores by TW2-20 method. The range of age were divided into 27 groups, and the radiographs of 50th percentile score were chosen as the standard bone-ages for the median age of each group. The youngest and oldest chronological age which had the same TW2-20 score of the standard bone-age were decided as the range of variation from the median age. we hope that Korean standard bone-age chart be used as the radiological criteria in the evaluation of the developmenta status in Korean children and adolescents.