Holoprosencephaly is a rare malformation complex or development defect including different degrees of incomplete cleavages of the embryonic prosencephalon and varying degrees of the midface defects, resulting from the defect of prechordal mesoderm, migrating forward into the area anterior to the notochord during the third week of fetal development. Early antenatal diagnosis of holoprosencephaly is important to find out its severity, to predict its prognosis, and to determine proper management according to its prognosis and severity. The possibility of early antenatal diagnosis of holoprosencephaly by ultrasound has been suggested, but occasionally missed and rarely confirmed. We present one case of lobar holoprosencephaly, diagnosed postnatally and one case of alobar holoprosencephaly, diagnosed antenatally in our hospitals.
Fetal Development ; Holoprosencephaly* ; Mesoderm ; Notochord ; Prenatal Diagnosis ; Prognosis ; Prosencephalon ; Ultrasonography

Ectopia cordis is a rare congenital anomaly in which the heart is situated outside the chest cavity and has been known for many years, being reported first in 1671 by Neil Stenson. Ectopia cordis appears closely related with defective embryonic development, arising as the result of defective formation and differentiation of the ventral mesoderm at 14 to 18 days of embryonic life. Ectopia cordis is usually classified into many types according to the site at which the heart protrudes: thoracic type, abdominal type, thoraco-abdominal type, cervical type. We have experinced one case of ectopia cordis which was diagnosed by ultrasonography at 16th gestational weeks in 30 year old multiparity. We report this case with brief review of literatures.
Adult ; Ectopia Cordis* ; Embryonic Development ; Female ; Heart ; Humans ; Mesoderm ; Parity ; Pregnancy ; Thorax ; Ultrasonography ; Ultrasonography, Prenatal*

Mesenchymal hamartoma of the chest wall is a rare tumor with about 53 reported cases in the English literature. We reviewed six chest wall mesenchymal hamartomas in four patients, including two cases with multiple lesions, with specific focus on the radiologic and pathologic correlation. All cases occurred in neonates or infants with ages ranging from seven hours to seven months. They were diagnosed with plain chest radiographs (n=6), ultrasonography (n=2), chest CT scan (n=6), whole body bone scan (n=2) and MRI (n=3). All cases except a small one without cystic change showed the typical features of mesenchymal hamartoma radiographically and pathologically. Radiologically they were well-circumscribed masses with solid and cystic components with multiple fluid-fluid levels in association with single or multiple rib destruction or change. The CT scan showed the typical findings of chest wall hamartoma, and the MR showed heterogeneous signal intensities of the mass on T1- and T2-weighted images. The MR also revealed more concisely a secondary aneurysmal bone cyst formation with multiple fluid-fluid levels on the T2-weighted image. Microscopically, they showed alternating areas of cartilaginous islands and primitive appearing mesenchymal proliferation, which corresponded well with the solid component on the radiologic findings. The areas of bone formation and blood-filled cystic spaces matched the calcified or ossified densities and the cystic components, respectively. A small case without cystic change showed peculiar radiological and pathological findings resembling an osteochondroma. In conclusion, mesenchymal hamartoma of the chest wall in infancy is quite rare and sometimes can be misdiagnosed as malignancy due to the bone-destroying radiographic appearance and the highly cellular and mitotically active microscopic features, unless the radiologists and pathologists are aware of the characteristic clinical, radiological, and pathological findings. Imaging studies can usually make a correct diagnosis with good correlation to the pathologic findings.
Female ; Hamartoma/ultrasonography ; Hamartoma/radiography*e ; Hamartoma/pathology* ; Human ; Infant ; Magnetic Resonance Imaging ; Male ; Mesoderm/ultrasonography ; Mesoderm/radiography ; Mesoderm/pathology ; Radiography, Thoracic ; Thoracic Neoplasms/ultrasonography ; Thoracic Neoplasms/radiography* ; Thoracic Neoplasms/pathology* ; Tomography, X-Ray Computed

Maffucci's syndrome is a very rare, congenital and non-hereditary mesodermal dysplasia manifested by multiple enchondromas and soft tissue hemangiomas. Since Maffucci had reported this sysdrome in 1881, there have been more than 100 cases reported, and also there has been reported that Maffuddi's syndrome has various interstitial tumor. However there hasn't been any report about Maffucci's syndrome with testicular teratoma. Here we report in this paper that the patient was diagnosed as Maffucci's syndrome of enchondroma and liver hamangioma and also had testicular teratoma. He was admitted for the evaluation of gynecomatia and diagnosed as enchondroma by bone biopsy of the right rib and tibia. Liver hemangioma was also found through abdominal ultrasonogram, CT scan and liver biopsy. And the testicular teratoma was confirmed through testicular biopsy. He is finally diagnosed as Maffucci's syndrome with testicular teratoma and literatures were reviewed.
Biopsy ; Chondroma ; Enchondromatosis ; Hemangioma ; Humans ; Liver ; Mesoderm ; Ribs ; Teratoma* ; Tibia ; Tomography, X-Ray Computed ; Ultrasonography

Mesenchymal hamartoma is an uncommon benign tumor usually found in childhood, especially during the first two years of life. The tumor consists of a solid component and multiple cyst. Without treatment, these lesions can grow to an enormous size. We experienced a case of mesenchymal hamartoma which was found incidentally, in a 8 month old girl who had ascending cholangitis after Kasai operation due to biliary atresia. On abdominal ultrasonography and CT, there was a well-defined homogeneous small echogenic mass in the right lobe of the liver with cirrhosis. Five months later, she underwent liver transplantation. Gross picture of the resected liver showed a dark greenish pigmented solid mass in the right lobe of the cirrhotic liver. Microscopic findings showed reactive mesenchyma and epithelial overgrowth.
Biliary Atresia* ; Cholangitis ; Female ; Fibrosis ; Hamartoma* ; Humans ; Infant ; Liver ; Liver Transplantation ; Mesoderm ; Ultrasonography

OBJECTIVE: A hepatic mesenchymal hamartoma is an uncommon benign tumor in children and little is known about the spectrum of its radiological features. The purpose of this study is to describe the spectrum of radiological features of a hepatic mesenchymal hamartoma in children. MATERIALS AND METHODS: Thirteen children with a pathologically confirmed hepatic mesenchymal hamartoma (M:F = 7:6; mean age, 3 years 2 months) were included in our study. Ultrasonography (US) was performed in nine patients including color and power Doppler US (n = 7). CT scans were performed in all patients. We evaluated the imaging findings of the hepatic mesenchymal hamartomas and the corresponding pathological features. RESULTS: Each patient had a single tumor (mean diameter: 13 cm [1.8-20 cm]). On CT and/or US, four patients (31%) had a "multiseptated cystic tumor", five patients (38%) had a " mixed solid and cystic tumor", and four patients (31%) had a "solid tumor." The septa of the cystic portion were thin in the multiseptated cystic tumors and irregularly thick in the mixed solid and cystic tumors as seen on US. On a post-contrast CT scan, solid portions or thick septa of the tumors showed heterogeneous enhancement. The amount of hepatocytes was significantly different among the three tumor groups according to the imaging spectrum (p = 0.042). CONCLUSION: A hepatic mesenchymal hamartoma in children can show a wide spectrum of radiological features, from a multiseptated cystic tumor to a mixed solid and cystic tumor, and even a solid tumor.
Child ; Child, Preschool ; Contrast Media/administration & dosage ; Female ; Hamartoma/*diagnosis ; Humans ; Infant ; Liver/*radiography/ultrasonography ; Liver Neoplasms/*diagnosis ; Male ; Mesoderm/*radiography/ultrasonography ; Observer Variation ; Radiographic Image Enhancement/methods ; Retrospective Studies ; Tomography, X-Ray Computed/methods ; Ultrasonography, Doppler, Color/methods

BACKGROUND/AIMS: This study was designed to clarify the fine structures of the hepatocytes and mesencymal tissues in chronic hepatitis according to severity. METHOD: For the purpose of elucidating the ultrastructural characteristics of mesenchymal tissues, liver biopsy specimens were studied by light and electron microscopy in 20 patients with chronic hepatitis. RESULTS: 1) Hepatocytes in mesenchymal tissues were thought to be in the stage of regenerated or degenerated process. 2) Regenerating nodules were surrounded by a basement membrane-like materials in the space of Disse. 3) In the widened Disse space the deposition of collagen fiber bundles and increased numbers of hepatic stellate cells in necrotic area were observed. 4) In necrotic areas, hepatic mesenchymal cell response including an increase of collagen fibers and fibroblast, angiogenesis, and a proliferation of bile ductules were also observed. CONCLUSIONS: These observations suggest that the fibrosis in severe chronic hepatitis was accompanied by the mesenchymal response including the proliferation of hepatic stellate cells, fibroblasts, capillarization of Disse space, and mesenchymal proliferation. Finally, this fibrosis observed electron microscopically may be a cause of functional hepatic failure.
Adult ; English Abstract ; Female ; Hepatitis, Chronic/*pathology/virology ; Hepatitis, Viral, Human/*pathology ; Hepatocytes/ultrastructure ; Human ; Liver/*ultrasonography ; Male ; Mesoderm/ultrastructure ; Microscopy, Electron ; Middle Aged

Percutaneous nephrostomy for relief of obstruction and functional preservation of the kidney was effectivelyperformed 19 times in 14 patients for recent 1 year since July 1982 at Departement of Radiology in Seoul NationalUniversity Hospital. The etiologies of the total 14 obstructive uropathies were metastatic cervix cancer in 6-cases, metastatic rectal cancer in 2 cases, and metastatic bladder cancer, malignant mixed mesodermal tumor operimetrium, pyonephrosis, bilateral staghorn stone, UVJ obstruction of undertermined cause, congenital UPJobstruction in 1 case respectively. Percutaneous nephrostomy was done bilaterally in 1 case of congenital UPJobstruction and unilaterally in 13 cases. We used ultrasound as puncture guide in 13 cases and CT in 1 case. Majorcomplication was absent, but minor complications occured in 4 patients; gross hematuria persisting 24 hours (1case), catheter dislodgment after several seeks (2 cases ) and luminal narrowing after 3 months(1 case).Satisfactory outcomes were made in 13 patients except 1 patient who succumbed one day after the procedure due topreexisting severe sepsis. The procedure proved to be safe and effective alternative to operative nephrostomy insome patients with urinary obstruction.
Catheters ; Hematuria ; Humans ; Kidney ; Mesoderm ; Nephrostomy, Percutaneous ; Phenobarbital ; Punctures ; Pyonephrosis ; Rectal Neoplasms ; Seoul ; Sepsis ; Ultrasonography ; Urinary Bladder Neoplasms ; Uterine Cervical Neoplasms