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.
Bone Density ; Bone Diseases, Metabolic ; Hand ; Humans ; Metabolism ; Osteoporosis ; Phenylalanine ; Phenylketonurias* ; Radiography ; Spine ; Wrist

The development of leukemia during pregnancy is rare and difficult to diagnosis and treatment. Acute leukemias are among the most common malignant neoplasms of young women, but paradoxically, their incidence complicating pregnancy is cited to be 0.9 to 1.2 cases per 100,000. l'he signs and symptoms of acut:e leukemia may mask the signs and symptoms of early pregnancy. 'I'he occurrence of acute leukemia during pregnancy raises many therapeut,ic and ethical dilemmas because of the potential tetatogenic effects of chemotherapy and the danger of fetal wastage, in addition to the well-known problem of marrow suppression in the mother. We experienced a case where diagnosis of a woman at the 15 gestational weeks revealed acute lymphocytic leukemia and immediate treatment. as well as termination of pregnancy was made to prevent abnormal neonatal birth. We present this case with review of related literatures.
Bone Marrow ; Diagnosis ; Drug Therapy ; Female ; Humans ; Incidence ; Leukemia ; Masks ; Mothers ; Parturition ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Pregnancy*

An acardiac twin is one of the very rare anomalies that occurs in monochorionic twins and the incidence of this is about one out of 35,000 births. We present the serial prenatal ultrasound findings, along with the postnatal histologic correlation, of an acardiac twin that manifested as a single lower extremity.
Fetus ; Humans ; Incidence ; Lower Extremity ; Parturition ; Ultrasonography, Prenatal

The congenital partial anonychia is known to be very rare developmental anomalies of the nail. Recently, we experienced a case of congenital partial anonychiain male newborn infant due to autosomal dominance. In this condition there complete absence of nails on the both thumb, index, middle fingers and toes were affected in a similar way to the fingers. But there were no other associated abnormalities. We present a case with a brief review of literature.
Fingers ; Humans ; Infant, Newborn ; Male ; Thumb ; Toes

Invasive micropapillary carcinoma (IMPCa) is a rare variant of invasive ductal carcinoma of the breast. This variant is associated with a set of peculiar cytological findings and aggressive biological behaviors. In most reported cases, IMPCa has involved massive axillary lymph node metastases at the time of diagnosis. We experienced four cases of cytological features of IMPCa, all of which were verified by histological examination. Fine needle aspiration cytology (FNAC) revealed malignant epithelial cells, which formed small, oval to angulated papillary clusters, which lacked central fibrovascular cores. The histological findings of the four cases revealed both pure and mixed forms of IMPCa, composed of cohesive malignant epithelial cells, surrounded by distinctive clear spaces and separated by thin fibrous septa. All patients evidenced axillary lymph node metastases at the time of diagnosis. It is important to identify the peculiar cytological findings which would differentiate IMPCa from other diseases.
Biopsy, Fine-Needle* ; Breast* ; Carcinoma, Ductal ; Diagnosis ; Epithelial Cells ; Humans ; Lymph Nodes ; Neoplasm Metastasis

Hydatidiform moles are generally separated into two classifications. Complete hydatidiform moles are characterized by cystic swelling of all villi, often pronounced diffuse trophoblastic hyperplasia, lack of fetal parts, all 46 chromosomes of paternal origin (androgenesis). Partial hydatidiform moles appear to be focal trophoblastic hyperplasia, a fetus or indications of previous fetal existence, 69 chromosomes. Hydatidiform mole with coexistent fetus is a very rare phenomenon, with an estimated incidence of 0.005 to 0.01 percent of all pregnancies and associated with a risk of persistent gestational trophoblastic tumor. Recently, hydatidiform moles with a fetus have become more common due to use of assisted reproductive technology. Most patients with hydatidiform mole and coexisting normal fetus must cautioned about the potential for risks of malignant change and severe medical complications, such as preeclampsia, hyperthyroidism and antepartum hemorrhage, that may necessitate prompt pregnancy termination. We experienced a case of partial hydatidiform mole with coexistent live fetus, which was diagnosed by ultrasonography at 15 gestational weeks. A brief reviews of related literature was done.
Classification ; Female ; Fetus* ; Hemorrhage ; Humans ; Hydatidiform Mole* ; Hyperplasia ; Hyperthyroidism ; Incidence ; Pre-Eclampsia ; Pregnancy ; Reproductive Techniques, Assisted ; Trophoblastic Neoplasms ; Trophoblasts ; Ultrasonography

Large intestinal Lipohyperplasia (LPH) is a poorly recognized lesion characterized by adipose tissue infiltration in the submucosal layer of the colon. Most of all, LPH developed at Ileoceal valve, especially upper lip which was called by ileocecal valve syndrome. For endoscopists and radiologists, it has often remained difficult to make a distinction from malignant neoplasia. We report here the case of a mild obese, 51-year-old man who had polypoid lipohyperplasia of the colon associated with extreme hyperplasia of the appendix. His chief complaint was recurrent intermittent abdominal pain. The colonoscopic finding was a submucosal tumor-like polypoid mass originating from appendix with smooth surface, But ileocecal valve was intact. Abdominal CT finding was 2.5 cm sized round heterogeneous low density mass like lesion with intratumoral fatty density of cecal tip area with enhancement of peripheral portion. In barium enema study, after retrograde filling of contrast, smooth extrinsic indentation of cecal tip with partial filling of appendix was seen. Histological exemination revealed infiltration of mature adipose tissue in the submucosal layer. Because of recurrent abdominal pain, ileocecal resection was performed at operation. We discuss the case and review the literatures on this subject.
Abdominal Pain ; Adipose Tissue ; Appendix* ; Barium ; Colon ; Enema ; Humans ; Hyperplasia ; Ileocecal Valve ; Lip ; Middle Aged ; Tomography, X-Ray Computed

PURPOSE: The purpose of this study was to evaluate the HRCT findings of bronchial asthma during maintenance bronchodilator therapy and to determine whether there were irreversible bronchial changes occurred in pediatric patients with this condition. MATERIALS AND METHODS: HRCT findings of the lung in 21 asthmatic children [14 boys and 7 girls aged between 3.5 and 13.8 (mean : 7.7) years] who were receiving maintenance bronchodilator therapy were retrospectively studied. At the time of CT examination, 16 were receiving nonsteroid bronchodilator therapy only, and five were receiving both bronchodilator and steroid therapy. Thirteen patients were defined as allergic and eight were nonallergic. The clinical severity of chronic asthma was graded as severe in seven cases, and moderate in 14. The duration of the disease ranged from 4 months to 6 years (mean 3.2 years). HRCT was performed in 19 cases for evalvation of the atelectasis, hyperinflation, and prominent bronchovascular bundles seen on plain radiographs, and in two cases for evaluation following acute exacerbation. A CT W-2000 scanner (Hitachi Medical Co. Tokyo, Japan) was used during the end inspiratory phase, and in addition, ten patients were scanned during the expiratory phase. Scans were reviewed for evidence of bronchial thickening, bronchiectasis, emphysema, abnormal density, mucus plugs, and other morphological abnormalities. The presence of bronchial wall thickening or air trapping was evaluated according to the duration, severity and type of asthma. RESULTS: Among the 21 patients, 7(33.3%) had normal HRCT findings, while in 14 (66.7%), bronchial wall thickening was demonstrated. Eleven of the 14 patients with bronchial wall thickening (78.6%) also had air trapping. No patient was suffering from bronchiectasis or emphysema. There were no statistically significant correlations between the presence of bronchial wall thickening or air trapping and the duration of the disease, its severity, or type of asthma. There was, however, a statistically significant correlation between bronchial wall thickening and air trapping (p < . 0 5 ). CONCLUSION: In asthmatic children who were under maintenance therapy, the most frequent HRCT findings were bronchial wall thickening and air trapping, with significant correlation between the presence of these two phenomena. No destructive lesion such as bronchiectasis or emphysema was found in these asthmatic children, however, and this is probably due to the short duration of the disease, and different disease processes.
Asthma ; Bronchiectasis ; Child* ; Emphysema ; Female ; Humans ; Lung ; Mucus ; Pulmonary Atelectasis ; Retrospective Studies

PURPOSE: To evaluate the radioloic findings of malignant retroperitoneal fibrosis. MATERIALS AND METHODS: Post-contrast CT (n=9) and urographic (n=7) findings of nine patients with malignant retroperitoneal fibrosis were retrospectively analyzed. Primary tumors were found to be advanced gastric cancer (n=6), early gastric cancer (n=1), breast cancer (n=1), and cervical cancer (n=1). We analyzed CT findings with regard to the site of soft tissue lesion, ureteral involvement, the presence or absence of hydronephrosis, and distant metastasis. The level and length of ureteral involvement, presence or abscence of ureteral stenosis, and ureteral displacement as seen on urography, were analyzed. RESULTS: On CT scans, enhanced soft tissue lesions (mass, 5 cases; plaque, 4 cases) encircling the abdominal aorta and IVC were noted in all cases. Thickening of the ureteral wall (n=8), hydronephrosis (n=9), and enlarged lymph node (n=5) were also seen. On urography, irregular stenosis and medial displacement of ureters from level L2 to S2 were noted in all cases. The length of ureteral involvement was 4-6.5cm. CONCLUSION: The common CT findings of malignant retroperitoneal fibrosis were enhanced soft tissue lesion encircling the abdominal aorta and IVC, hydronephrosis, and thickening of the ureteral wall. On urography, ureteral stenosis and medial displacement were seen.
Aorta, Abdominal ; Breast Neoplasms ; Constriction, Pathologic ; Humans ; Hydronephrosis ; Lymph Nodes ; Neoplasm Metastasis ; Retroperitoneal Fibrosis* ; Retrospective Studies ; Stomach Neoplasms ; Tomography, X-Ray Computed ; Ureter ; Urography ; Uterine Cervical Neoplasms

PURPOSE: To evaluate the usefulness of color Doppler ultrasonography in the differential diagnosis of breast masses. MATERIALS AND METHODS: We prospectively evaluated to pathologically proven breast lesions. Forty-three were benign (39 fibroadenomas, two papillomas and two lipoma) and 27 were malignant (25 infiltrating ductal cardinomas, one mucinous carinoma and one atypical medullary caricinoma). In 32 cases, we categorized color signal from 0 to III, according to the degree of vascularity, and analysed peak systolic velocity (PSV) and resistive index (RI). RESULTS: Color signals of malignant lesions tended to be high grade (II, III), whereas those of benign lesions tended to be low (0, I), and the difference was statistically significant (P<0.005). In the analysis of spectral waveform , correlation between RI, PSV and malignancy was statistically significant (P<0.02). RI above 0.7 and PSV above 10 were the highest recorded values for sensitivity and specificity. CONCLUSION: Color Doppler ultrasound is a useful modality to distinguish benign from malignant breast masses. Malignancy is suggested when the color signal is grade II or III, the resistive index is higher than 0.7, and peak systolic velocity is higher than 10cm/sec.
Breast* ; Diagnosis, Differential ; Fibroadenoma ; Mucins ; Papilloma ; Prospective Studies ; Sensitivity and Specificity ; Ultrasonography ; Ultrasonography, Doppler, Color*