Be-Fong Chen

Distinguishing multiple rice body formation in chronic subacromial-subdeltoid bursitis from synovial chondromatosis

Abstract. Multiple rice body formation is a complication of chronic bursitis. Although it resembles synovial chondromatosis clinically and on imaging, the literature suggests that analysis of radiographic and MR appearances should allow discrimination. We report the imaging findings in a 41-year-old man presenting with rice body formation in chronic subacromial-subdeltoid bursitis. We found that the signal intensity of the rice bodies is helpful in making the diagnosis.

Identification of a novel mouse p53 target gene DDA3

We have identified a novel p53 regulated gene designated DDA3 through differential mRNA display on IW32 erythroleukemia cells containing a temperature sensitive p53 allele, tsp53val-135. DDA3 mRNA induction could be observed in all sublines expressing tsp53val-135 cultured at permissive temperature as well as in NIH3T3 cells undergoing DNA damage. Upregulation of DDA3 could be detected within 2 h after down-shifting the temperature to 32.5°C; upon shifting back to 38.5°C, DDA3 mRNA rapidly degraded with a half-life of less than 2 h. Actinomycin D, but not cycloheximide, inhibited the p53 dependent DDA3 induction, suggesting that the activation is through transcriptional regulation and does not require de novo protein synthesis. DDA3 was expressed in multiple mouse tissues including brain, spleen, lung, kidney and testis. Full-length DDA3 cDNA was cloned and it contained an open reading frame predicted to encode a proline rich protein of 329 amino acids. Overexpression of DDA3 in H1299 lung carcinoma cells suppressed colony formation. These results suggest that DDA3 is a p53-regulated gene that might participate in the p53-mediated growth suppression.

Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, uinary tract anomalies, congenital heart defect and kyphoscoliosis

We describe perinatal findings in a female fetus with partial trisomy 8q(8q24.1→8qter) and partial monosomy 15q(15q26.1→15qter) resulting from a paternal t(8;15) reciprocal translocation. Prenatal sonographic examination showed intra‐uterine growth retardation, bilateral ventriculomegaly, cardiomegaly with arrhythmia, anhydramnios, and absent kidney and urinary bladder images. The pregnancy was terminated at 28 weeks of gestation. At birth, the infant manifested typical dysmorphic features of partial trisomy 8q. Necropsy further revealed hydrocephalus, congenital diaphragmatic hernia, ventricular septal defect, a horseshoe kidney with renal hypoplasia, and kyphoscoliosis. Our case shows that the coexistence of partial trisomy 8q24.1→8qter and partial mono‐somy 15q26.1→15qter are more detrimental than either defect alone and can result in a complex of major malformations. Prenatal ultrasound examination and cytogenetic assessment should be offered in subsequent pregnancies. Copyright

Mucopolysaccharidosis I under enzyme replacement therapy with laronidase—A mortality case with autopsy report

There is little information about MPS I-related complications during laronidase therapy. We describe the first autopsy report of a young male MPS I patient who died of infection-induced cardiopulmonary failure following 2 years of weekly treatment with laronidase.

Primary synovial osteochondromatosis of the first metatarsophalangeal joint

Abstract. Synovial osteochondromatosis is an uncommon disorder, generally seen in large joints such as the knee, elbow, shoulder, hip and ankle. We report a 35-year-old man with synovial osteochondromatosis of the metatarsophalangeal joint of the great toe. Despite the rarity of the location, the radiographic appearance ought to suggest the diagnosis. Histological confirmation is required, since malignancy cannot be totally ruled out clinically and radiographically.

Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial development, a holoprosencephaly locus, and the chromosomal segment 14q13.

Malignant giant cell tumor of the tendon sheath.

A 27‐year‐old man presented with a slow‐growing, painless mass on the right anterior forearm of 4 years’ duration. Because of apparent rapid enlargement of the mass, he underwent surgical excision in a local clinic without histopathologic examination in June 1999. Recurrence of the tumor was noted in August 1999, when an excisional biopsy was performed. The pathologic diagnosis was giant cell tumor of the tendon sheath. In December 1999, he presented to our dermatology clinic with a local recurrence at the same site. He denied any history of trauma or any particular event preceding the initial appearance of the mass. On physical examination, there was a skin‐colored subcutaneous nodule, about 1.5 cm in size, under the operative scar on the right anterior forearm ( Fig. 1 ). We performed an excisional biopsy. The pathology showed features of osteosarcoma. No bony involvement was seen on X‐ray or bone scan. Routine blood chemistry and blood count were normal.

Gastro-intestinal bleeding caused by leiomyoma of the small intestine in a child with neurofibromatosis.

Abstract Gastro-intestinal bleeding is an uncommon presentation in children with neurofibromatosis. Gastro-intestinal involvement caused by jejunal leiomyoma has only been described in adults. To the best of our knowledge, this is the first paediatric case of jejunal leiomyoma associated with neurofibromatosis. We present a 10-year-old girl with a 9-month history of anaemia and low gastro-intestinal bleeding. Abdominal sonography and small bowel series showed a submucosal mass in the proximal jejunum. On surgery, a submucosal tumour was excised and histological examination suggested a diagnosis of “smooth muscle tumour of undetermined malignant potential”. There were no recurrence of symptoms for 4 years after the operation. Conclusion Jejunal leiomyoma should be considered in a child with neurofibromatosis presenting with gastro-intestinal bleeding.

Progressive fetal axillary cystic lymphangioma with coexistent naevus flammeus

We report the rare occurrence of a progressive fetal axillary cystic lymphangioma coexistent with an overlying naevus flammeus. The fetus at 22 weeks gestation was found to have a 37 × 35 mm left axillary multiloculated mass without colour‐flow imaging. Amniocentesis showed a normal 46.XX karyotype. Multiple fine‐needle aspirations of the mass in the second and third trimesters obtained blood‐stained chocolate‐coloured fluid containing numerous erythrocytes and lymphocytes but proved ineffective in lessening the progressive growth of the mass. The mother underwent caesarean delivery and a healthy neonate was born with a 141 × 81 mm left axillary cystic lymphangioma and a 50 × 35 mm coexistent naevus flammeus. The neonate was well after simple excision of the lesions. Although cystic lymphangiomas arising in the axilla enlarge progressively during fetal life. our case suggests a good prognosis and except for genetic evaluation. no prenatal intervention is required.

Malignant hemangioendothelioma presenting as omental masses in a child.

Malignant hemangioendothelioma is an uncommon lesion of the omentum in children. Multiple foci of malignant hemangioendothelioma is even more rare in the omentum. In the present case, a computed tomography scan of the abdomen showed multiple enhanced nodular lesions. To our knowledge, this is the first report of this tumor occurring in a child.