[Enlarged kidney in children. Diagnostic orientation].
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Child↗
Biomedical subjects
F Freycon
Publications and source records attributed to F Freycon.
[Intracranial venous sinus thrombosis in nephrotic syndrome].
A 3-year old child was admitted for a third relapse of nephrotic syndrome associated with intracranial hypertension related to dural sinus thrombosis (tomodensitometry). The treatment consisted in the association of low dose heparin and fresh frozen plasma. After a 3 year-follow-up, there was no neurologic sequelae, and the nephrotic syndrome was on complete remission. The radiologic features and the management of sinus thrombosis are discussed.
Brain↗
[Abdominal aortic aneurysm and Bourneville's tuberous sclerosis].
The authors report on a case of tuberous sclerosis diagnosed in the neonatal period on the basis of intracardiac tumor, rib anomalies and cerebral calcifications. At 4.5 months of age the infant presented acute abdominal pains which led to the discovery (ultrasound identification confirmed by CT scan) of a giant ectasia of the whole abdominal aorta. The infant died 2 days later from the rupture of this aortic aneurysm.
Aortic Aneurysm, Abdominal↗
[Multifocal tuberculosis with cerebellar tuberculoma].
A 10-year old child was admitted for vomiting and a high grade fever. He had been previously immunized twice against tuberculosis. A cerebellar syndrome appeared, and the brain CT scan showed an intracerebellar mass. Disseminated lesions were detected on abdominal (splenic abscess) and thoracic (mediastinal lymph nodes) CT scans. The bone scintigraphy also showed multiple localisations. A craniotomy was performed that revealed a cerebellar tuberculoma which was completely removed. The child received an antituberculous treatment over 18 months and is currently well with a 5 year follow-up.
Antitubercular Agents↗
[Hematuric cystitis after bone marrow allograft: a case].
A 16-year-old boy experienced a severe macroscopic hemorrhagic cystitis 20 days after a partially mismatched allogeneic marrow transplantation for an acute lymphoblastic leukemia. The conditioning included cyclophosphamide and total body irradiation. After a conservative management, the hematuria spontaneously resolved after 3 months of gross hematuria. The authors review the literature, and stress the predisposing factors and clinical outcome of such complication. They advocate a conservative "watch-and-wait" approach including intensive bladder irrigation.
Adolescent↗
[Blackfan-Diamond disease and malignancy: cause effect relationships?].
The authors report on a 24-year old patient with Blackfan-Diamond syndrome who developed a Hodgkin's disease. This patient became transfusion-dependent at the age of 10, after an initial period of corticosensitivity, and after failure of androgens. He developed hemochromatosis despite from parenteral chelation therapy. He died of infectious complications 4 months after the diagnosis of Hodgkin's lymphoma. A review of the literature shows an increased incidence of malignancies in Blackfan-Diamond syndrome (three cases of leukemia), and in similar disease (thalassemia and sickle cell disease), but not in other patients with hemosiderosis (primitive hemochromatosis, end-stage renal failure under dialysis). Etiopathogenic hypotheses are discussed.
Adult↗
[Primary cerebromeningeal hemorrhages in children (except newborn infants)].
The authors report their experience on 22 children admitted for spontaneous subarachnoid hemorrhages, to the pediatric and neurosurgery units of the University-Hospital of Saint-Etienne. There were seven cases of subarachnoid hemorrhages (five ruptured arterial aneurysms and one angioma) and 15 cases with associated intracranial hematomas (eight angiomas, one cavernoma, one aneurysm). Seven of 15 children with hematoma died, compared to two of seven children with subarachnoid hemorrhage. Half of the patients with hematomas and 20% of those with subarachnoid hemorrhage had sequellae. This rare pathology should be diagnosed in emergency, since brain damage occurs secondary to raised intracranial pressure. The respective roles of tomodensitometry, lumbar puncture and arteriography are discussed. The surgery should be performed in emergency, because the most frequent etiology is a vascular malformation, and because there is a risk of unexpected deterioration. When an underlying cause cannot be found neither by arteriography not by surgery, the follow-up should include a tomodensitometry and/or magnetic imaging.
Adolescent↗
[Iron deficiency in infants and children].
A study of the incidence of iron deficiency and its risk factors was carried out in 90 hospitalized or outpatient children and infants, 4 to 48 months old. Iron deficiency (serum iron concentration less than 10 mumol/l) was found in 70% of them and microcytosis (mean corpuscular volume less than 70 fl) in 10%. A good correlation was observed between hemoglobin concentration or mean corpuscular volume, and serum iron or ferritin concentrations. When risk factors were studied, 20% of the children were found to have insufficient meat or vegetable intakes. Only 45% of 6 month-old and 20% of 1 year-old infants received iron fortified milk formulas. However no significant correlation was found between the nutritional factors and the hematological data. Anemia and microcytosis were significantly more frequent in children born from immigrant parents as compared with native children, but there was no difference between these two groups for isolated iron deficiency. These results indicate that there is a need for a better prevention of iron deficiency in French infants and young children; a larger use of iron fortified milk formula until the age of 12 months is to be recommended.
Anemia, Hypochromic↗
[What is your diagnosis? Interhepatophrenic collection secondary to ventriculoperitoneal shunt].
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Adolescent↗
In utero transplantation of stem cells in humans: immunological aspects and clinical follow-up of patients.
Four human fetuses were treated by transplantation of human fetal liver stem cells. Two of them had severe immunodeficiency disease and the two other ones had thalassemia major. Three of these in utero transplants were followed by engraftment. The three patients are now born: the first one is now very healthy thanks to the reconstitution of cell-mediated immunity associated with this transplant, and he lives normally at home; the two other ones, who have been more recently treated, have a significant improvement of their condition and they also live normally at home. This procedure, for the first time used in humans, has therefore demonstrated its feasibility and its efficacy: during early fetal development, foreign cells engraft readily and may result in cure or significant correction of a large variety of inherited diseases.
Blood Transfusion, Intrauterine↗
[Study of serum kinetics of vancomycin during the "antibiotic-lock" technique].
The serum kinetics of vancomycin was studied in two patients aged 3 and 15 years during antibiotic therapy for catheter related sepsis associated with Staphylococcus epidermidis. Vancomycin was administered, simultaneously, by parenteral conventional doses (30 mg/kg/day div q 8 h) and using the antibiotic-lock technique in the infected catheter at a high concentration (150 mg/ml) during one hour, 3 hours after each infusion. Pharmacokinetics data did not show any significant change in the serum kinetics of the antibiotic. The results suggest that delivering a high concentration of vancomycin in the infected catheter using the lock technique may be useful to sterilize infected catheter without toxic effect.
Adolescent↗
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.
Arylsulfatase A (ASA) is a lysosomal enzyme that hydrolyzes sulfatide. Absence of ASA activity leads to metachromatic leukodystrophy (MLD). The clinical outcome resulting from ASA deficiency is highly variable with respect to age of onset and symptoms. So far the causes for the variability are poorly understood. We have studied the relationship between the ASA genotype and the clinical phenotype. Fibroblasts from a total of 34 subjects with low ASA activity were examined with immunoblotting, a sensitive ASA assay, and the sulfatide loading test in order to characterize low ASA activity further. By these methods, three different classes of ASA deficiency can be defined: homozygosity for the pseudodeficiency allele (ASAp), compound heterozygosity for the ASAp and MLD (ASA-) alleles, and ASA-/ASA- genotypes. These genotypes exhibit different levels of ASA residual activity. Only ASA-/ASA- genotypes are associated with MLD. For diagnostic purposes, however, the differentiation of the various ASA genotypes is essential.
Adolescent↗
[Alexander's disease].
Alexander disease, or hypoproconvertinemia is a rare autosomic recessive coagulation disorder. The features include familial and/or personal history of bleeding, with an abnormal prothrombin period and a normal activated partial thromboplastin period. Coagulation and genetic studies allow subclassification with prognosis incidence for this disease. The authors report on a case of one family with Alexander disease.
Child↗
[Transient erythroblastopenia and neutropenia revealing human parvovirus B19 infection].
The authors report on a pediatric case of transient neutropenia with erythroblastopenia secondary to human parvovirus infection occurring in a child without underlying hemolytic disease. The heterogeneity of hematologic manifestations in such infections is discussed.
Anemia, Aplastic↗
[Growth factors and oncogenes in brain tumors: the model of glioblastoma and medulloblastoma].
Glioblastomas and medulloblastomas are models for studying the implication of growth factors and oncogenes in tumor development. Amplification and/or hyperexpression of oncogenes result in products that may mimic growth factors and/or their receptors; cells may demonstrate autocrine and/or paracrine activity. Prognostic implications of such findings are suggested.
Brain Neoplasms↗
[Chromosome anomalies in brain tumors].
The authors review the literature concerning chromosomal abnormalities in childhood brain tumors: medulloblastomas, ependymomas, and gliomas of low and high grade. Though these technics require further development, they highlight the role of cytogenetic modification in oncogenesis of brain tumors.
Astrocytoma↗
[Medulloblastoma].
Medulloblastoma is a frequent brain tumor in childhood. Recent advances in histogenesis, management of early and late side-effects, and prognosis are discussed in this review.
Cerebellar Neoplasms↗
New developments in stem cell transplantation with special reference to the first in utero transplants in humans.
Based on the experience acquired in post-natal liver transplantation since 1974, we recently initiated pre-natal, in utero stem cell transplantation from the human fetal liver. The first two fetuses that we treated had immunodeficiencies, the third one had thalassemia major. Donors and recipients were not matched. The fetal cells were infused in the umbilical vein of the first two patients and injected intraperitoneally into the third one, under ultrasonic visualization. The first patient, born in 1988, has both engraftment of donor cells and reconstitution of cell-mediated immunity. This child, who had bare lymphocyte syndrome, has no clinical manifestation of the disease and he lives normally at home. The second child, born in 1989, has not yet developed a significant reconstitution of immunity although donor cell engraftment has been proven (Y chromosome in this female patient). The third patient has also evidence of donor cell take (Y chromosome in a female patient) but the effect on thalassemia has not yet been fully analyzed (donor hemoglobin present in small quantity). In all 3 cases, no side-effect of any kind developed in the mother nor in the fetus. Several advantages appear to be associated with in utero FLT: increased probability of graft take, ideal isolation of patient (in the uterus), optimal environment for fetal cell development (in the fetal host).
Female↗