11/3257. Multifocal osteosarcoma: an unusual presentation. PURPOSE: Report the unusual presentation, clinical course, and cytogenetic abnormalities in a child with multifocal osteosarcoma. patients AND methods: A 10-year-old boy had multifocal osteosarcoma involving the entire skeleton, pleura, bone marrow, and lungs. He had marked anemia, thrombocytopenia, and severe hypocalcemia at diagnosis. RESULTS: Despite aggressive chemotherapy, he died from progressive disease 1 month after diagnosis. cytogenetic analysis of tumor cells within the pleural fluid showed multiple chromosomal abnormalities with amplification of the c-myc oncogene. CONCLUSION: Multifocal osteosarcoma should be considered in the differential diagnosis of a child with pancytopenia and multiple bone lesions. Amplification of the c-myc oncogene may have had a significant role in the pathogenesis, etiology, and rapid progression of this patient's multifocal disease. Additional studies will be needed to determine the biologic significance of c-myc amplification in multifocal osteosarcoma. ( info) |
12/3257. Prolonged survival of a patient with sickle cell trait and metastatic renal medullary carcinoma. PURPOSE: The treatment and outcome of a patient with sickle cell trait and metastatic renal medullary carcinoma is described. PATIENT AND methods: A 12-year-old boy with sickle cell trait had metastatic renal medullary carcinoma. After surgical resection of the primary tumor, he received chemotherapy with methotrexate, vinblastine, doxorubicin, and cisplatin. The carcinoma progressed after a 6-month period of stable disease. At that time, he received chemotherapy including ifosfamide, etoposide, carboplatin, and topotecan. RESULTS: The patient died of progressive disease 15 months from diagnosis. The patient's tumor in this report showed no progression while he was receiving methotrexate, vinblastine, doxorubicin, and cisplatin, but eventually became refractory to these and other cytotoxic agents. CONCLUSION: Renal medullary carcinoma is a highly chemotherapy-resistant tumor. Average survival after diagnosis is 15 weeks; the longest survival reported in the literature is 12 months from diagnosis. The patient in this report survived longer than the previously described patients before dying from progressive disease. ( info) |
13/3257. Digital clubbing in a patient with progressive mantle cell lymphoma. Digital clubbing with or without hypertrophic osteoarthropathy may occur in a variety of neoplastic diseases. We present the first description of digital clubbing in a patient with progressive mantle cell lymphoma, in the absence of any other apparent etiology. We suggest that clubbing might be a paraneoplastic manifestation in mantle cell lymphoma. The literature on digital clubbing in hematological neoplasms is reviewed. ( info) |
14/3257. Clinical presentation and types of Dupuytren's disease. The clinical presentation of Dupuytren's disease is discussed with emphasis on dermato-pathology, the nodule, the cord, ectopic manifestations regional and distant, and disease progression. The differential diagnosis also is described with a list of pseudo-Dupuytren's disease cases. Observations by this author suggest that there are two distinct clinical entities responsible for palmar fascial contracture, namely typical Dupuytren's disease and atypical Dupuytren's contracture. These two types seem to differ in presentation, treatment, and prognosis. The characteristic clinical findings of each of these two types are described. The disparity among treatment outcome studies and epidemiologic studies with regard to the prevalence of Dupuytren's disease is probably in part due to lack of distinction between these two clinical types. Accurate diagnosis and satisfactory treatment outcome can be achieved by careful history, thorough physical examination, and keen understanding of the pathophysiology of this enigmatic disease. ( info) |
| The authors report a young patient with fibromuscular dysplasia involving multivessels including coronary arteries. If young patients have chest pain on effort, fibromuscular dysplasia of coronary arteries must be considered. As fibromuscular dysplasia is a chronic progressive disease and some cases progress rapidly in a few months, careful follow-up and comprehensive medical management may be necessary in such patients. ( info) |
16/3257. Clinical features and surgery for acquired progressive esotropia associated with severe myopia. PURPOSE: The purpose of this study was to evaluate the clinical and physiological findings and to determine the most appropriate surgical procedure for acquired progressive esotropia with severe myopia. methods: Thirty-eight cases of acquired progressive esotropia with severe myopia were examined to evaluate their clinical and physiological findings. All cases were divided into four groups according to the limitation of their abduction. The eyeball in group IV is fixed in an extremely adducting position. Thirty-one cases underwent strabismus surgery; medial rectus muscle recession and lateral rectus muscle resection in 23 cases, transposition of superior and inferior rectus muscles (modified Jensen procedure included) in eight cases. RESULTS: The medial rectus muscle recession with the lateral rectus muscle resection procedure was effective in the early stage of acquired progressive esotropia patients. Transposition procedure was effective in the severe abducting limited patients. CONCLUSIONS: As the recession & resection procedure is easier than the transposition procedure, we recommend performing surgery in the earlier stage of the abducting disorder before the eyeball is fixed in an extremely adducting position. ( info) |
| basilar artery occlusion (BAO) causing brainstem infarction occurred in a 7-year-old boy without any basic disorders. A diagnosis of BAO due to basilar artery dissection (BAD) was suspected at angiography, and this was confirmed by gadolinium-enhanced magnetic resonance imaging (MRI). These investigations clearly showed all the typical diagnostic signs such as a pseudolumen, double lumen and intimal flap, and a pseudolumen in resolution. The spontaneous healing of the dissection was clearly demonstrated during 10 months of follow-up. We stress that BAD can occur in young children and that combined diagnosis with gadolinium-enhanced MRI and angiography is conclusive for diagnosis of dissecting aneurysms. Wider use of these combined diagnostic methods will allow the detection of less severe basilar artery dissection, thus extending the spectrum of presentation and prognosis. ( info) |
18/3257. Case studies: psychological test findings for two children with X-linked adrenoleukodystrophy. Psychological evaluations were performed on two children with X-linked adrenoleukodystrophy. Case histories are presented that describe the natural history of the disorder and its symptom patterns, some of which mirror psychiatric disorders of childhood. Psychological evaluation test scores for both boys are displayed in a table, and commonalities and differences are discussed. Findings are reviewed to expedite the referral process for a definitive diagnosis. Guidelines are provided regarding the differential diagnosis of adrenoleukodystrophy and other neurodegenerative disorders of childhood from the more prevalent disorders of behavior and learning that may present in a developmental clinic. Finally, recommendations for psychological interventions with the affected child and family members are provided. ( info) |
19/3257. Evolution of left ventricular diseasein the fetus. Case report. A fetal case is described that showed a rapid progression from the features of initial left ventricular fibroelastosis at 20 weeks of gestation to a more marked dilation at 22 weeks and finally to a hypoplastic left ventricle with aortic stenosis at 24 weeks of gestation. This case confirms the evolutive character of left ventricular disease during fetal life. ( info) |
20/3257. Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen. We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity. Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordination, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [karyotype 46, XY, del (18)(p11.1)] developed progressive asymmetric dystonia. She had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic movements of the right arm, severe dystonic posturing of the left arm, and spastic dystonia in both legs. Her response to parenteral or oral benzodiazepines, oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were brief and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chronic intrathecal baclofen therapy via pump has been effective in this case and should be considered as a treatment modality in carefully selected patients with dystonia. ( info) |