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L’auteur s’interroge sur les specificites du secret professionnel dans l’exercice de la pediatrie. La reflexion est centree sur le bien-fonde du partage du secret ou des secrets a travers differents scenarios qui peuvent se presenter dans la relation triangulaire parents-enfant malade-pediatre dans des maladies chroniques aussi variees que les leucemies et cancers, l’infection par le vih, le syndrome de Turner.

RESUME La transplantation hepatique (TH) chez l’enfant a connu un essor croissant depuis plus de vingt ans permettant maintenant d’en analyser les resultats a long terme chez les patients devenus de jeunes adultes. La survie a dix ans apres la transplantation depasse aujourd’hui 80 %. La litterature est encore peu abondante en ce qui concerne les differents aspects de la vie quotidienne, l’insertion socio-professionnelle, le vecu a l’âge adulte des patients transplantes dans l’enfance. L’objectif de la presente etude a ete d’apporter une contribution originale en ce domaine en recueillant le temoignage direct des patients sur leur suivi medical, sur les diverses facettes de leur vie quotidienne, personnelle et familiale, leur vecu a long terme apres TH, et leurs suggestions sur d’eventuelles ameliorations de leur prise en charge. L’etude a ete realisee par entretiens telephoniques a l’aide d’un questionnaire adapte chez 116 jeunes adultes volontaires, d’âge moyen 21 ± 4 ans, avec un recul median de quinze ans depuis la TH. Le suivi medical specialise etait essentiellement ambulatoire et sans retentissement important sur la vie quotidienne pour la tres grande majorite des patients qui « menaient une vie normale ». Pour les patients poursuivant des etudes en lycee (65 %), un retard scolaire superieur ou egal a deux ans etait constate chez 36 % des patients. Le pourcentage de bacheliers etait significativement inferieur a celui de la population de reference pour les hommes et similaire pour les femmes. Treize pour cent des patients n’etaient detenteurs d’aucun diplome Le pourcentage de jeunes sans emploi (12 %) n’etait pas statistiquement different de celui de la population generale de meme âge (17 %). Les consommations de tabac et de cannabis n’etaient pas significativement differentes de celles de la population generale des memes tranches d’âge. La consommation d’alcool etait significativement tres inferieure.

Objectives To study the frequency and risk factors of growth retardation (GR) in patients with Diamond-Blackfan anemia. Study design A cross-sectional survey including the 95 patients followed by hematologists affiliated with the French Society of Pediatric Hematology and Immunology for whom growth data were available; 43 patients were transfusion dependent, 32 were steroid dependent, and 20 patients were off treatment. GR was defined as height below 2 SD. Results Growth retardation was observed in 29.5% (28) patients. The proportion of GR increased significantly with age (16% 16 years) and was higher in on-treatment than in off-treatment patients (35% among transfusion-dependent, 37% among steroid-dependent vs 5% among off-treatment). GR was significantly linked to associated malformations (OR, 2.3 [1.1 to 8.0]; P = .02) and intrauterine growth retardation (OR, 6.0 [1.1 to 11.6]; P = .021). GR remained independently associated with age, malformations, and treatment in a logistic regression. Conclusions Our study showed that the risk of GR increases with age and is associated with treatment dependence. This result addresses the question of the respective part, in the pathogenesis of GR, of the disease severity, illustrated by treatment dependence on the one hand and of the deleterious effects of long-term treatments on the other hand.

Resume Objectifs. – Preciser les differentes causes des syndromes inflammatoires febriles de l’enfant, et analyser la place des differents examens complementaires a realiser. Patients et methodes. – Nous avons mene une etude retrospective des hospitalisations, entre 1990 et 2000, pour syndrome inflammatoire febrile defini par une temperature superieure a 38 °C associee a une augmentation de la vitesse de sedimentation (VS) superieure a 20 mm/h et/ou de la proteine C reactive (CRP) superieure a 20 mg/L et ne relevant pas d’une cause infectieuse simple. Resultats. – Les dossiers de 62 enfants âges de deux mois a 15 ans (âge median de quatre ans) ont ete analyses. Les differents diagnostics se repartissaient en maladie inflammatoire systemique, hemopathie maligne et maladie sans diagnostic precis dans respectivement 79 % (49 enfants), 3,2 % (deux enfants) et 17,8 % (11 enfants) des cas. La maladie de Kawasaki etait la cause preponderante (22 enfants), surtout avant l’âge de deux ans. Une VS superieure a 100 mm/h et une CRP superieure a 100 mg/L ont ete observees dans 59 % des maladies de Kawasaki, 71 % des arthrites juveniles idiopathiques non compliquees de syndrome d’activation lympho-histiocytaire (SAL), 100 % des hemopathies malignes, et 7 % des diagnostics imprecis. Une VS inferieure a 50 mm/h et une CRP inferieure a 50 mg/L ont ete observees dans 75 % des SAL et 46 % des diagnostics imprecis. Le taux de polynucleaires neutrophiles, le bilan hepatique, la triglyceridemie, de la ferritine et de sa fraction glycosylee, l’echographie et le scanner abdominopelviens, l’echographie cardiaque, les analyses histologiques de lesions cliniques ou radiologiques ont ete egalement informatifs. En revanche, les examens scintigraphiques se sont averes peu utiles, en l’absence d’orientation clinique. Conclusion. – Le diagnostic de maladie de Kawasaki doit etre facilement evoque devant un syndrome febrile non infectieux chez le nourrisson. Les valeurs de la VS, de la CRP, du nombre de polynucleaires neutrophiles, des transaminases, des γGT et des triglycerides, les echographies abdominale et cardiaque permettent souvent d’orienter le diagnostic.

We report a case of congenital dyserythropoietic anaemia, type I, with severe pre- and postnatal manifestations. Exchange transfusions were required for fetal anaemia (3.5 g/dl) at 28 and 30 weeks of gestation. Transfusions were administered at birth (Caesarean section at week 35) and at regular intervals thereafter. At 14 months, alpha-interferon therapy was initiated (106 units three times a week). This resulted in stabilization of the haemoglobin at or above 11 g/dl and a reduction in the percentage of erythroblasts with ultrastructurally abnormal heterochromatin. After 9 months, the dose of alpha-interferon was decreased to 106 units twice a week. No relapse of anaemia was noted during an additional 4 months of follow-up.

Defective lymphocyte apoptosis caused by mutations of the Fas gene can result in an autoimmune lymphoproliferative syndrome (ALPS) in humans. We report two cases of dyserythropoiesis associated with a Fas-deficient condition in childhood. In both cases, dyserythropoiesis predominated on the more mature erythroblasts, and was associated with a lymphoproliferative syndrome as well as with haemolytic anaemia, hypergammaglobulinaemia and the expansion of an unusual population of CD4- CD8- T cells that express the alpha/beta T-cell receptor. The regression of dyserythropoiesis under steroid therapy suggested that it resulted from an autoimmune mechanism, itself secondary to the lymphocyte Fas apoptosis deficiency. Fas-defective apoptosis may be a new aetiology for childhood dyserythropoiesis.

We retrospectively analyzed the bone marrow (BM) smears of 10 children with mitochondrial cytopathies. Light microscopic examination showed large and coalescent cytoplasmic vacuolization of some BM precursors in nine cases, including two children with normal peripheral blood counts and four with sideroblastic anemia. BM ultrastructural study showed abnormal mitochondria in the erythroid lineage in all three children studied. Ultrastructural studies in two cases revealed a population of giant mitochondria with abnormal ultrastructure coexisting with a population of normal mitochondria in proerythroblasts, basophil erythroblasts, and less commonly in more mature erythroblasts. In a third child, mitochondria were normal in size with cristae either absent or exhibiting abnormal longitudinal orientation. Heteroplasmic segregation of mitochondria during cell division could account for the finding of a double population of cells on ultrastructural examination. These features suggest that cytologic and ultrastructural BM examination could be useful for the diagnosis of mitochondrial disorders. That is, when large and coalescent cytoplasmic vacuoles of BM precursor cells are present, the clinician should search for mitochondrial cytopathy in a child with unexplained cytopenia(s).

Porphyrias, a group of inborn errors of heme synthesis, are classified as hepatic or erythropoietic according to clinical data and the main site of expression of the specific enzymatic defect. Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase (COX). Typical clinical manifestations of the disease are acute attacks of neurological dysfunction; skin photosensitivity may also be present. We report a variant form of HC characterized by a unifying syndrome in which hematologic disorders predominate: harderoporphyria. Harderoporphyric patients exhibit jaundice, severe chronic hemolytic anemia of early onset associated with hepatosplenomegaly, and skin photosensitivity. Neither abdominal pain nor neuropsychiatric symptoms are observed. COX activity is markedly decreased. In a first harderoporphyric family, with three affected siblings, a homozygous K404E mutation has been previously characterized. In the present study, molecular investigations in a second family with neonatal hemolytic anemia and harderoporphyria revealed two heterozygous point mutations in the COX gene. One allele bore the missense mutation K404E previously described. The second allele bore an A→G transition at the third position of the donor splice site in intron 6. This new COX gene mutation resulted in exon 6 skipping and the absence of functional protein production. In contrast with other COX gene defects that produce the classical hepatic porphyria presentation, our data suggest that the K404E substitution (either in the homozygous or compound heterozygous state associated with a mutation leading to the absence of functional mRNA or protein) is responsible for the specific hematologic clinical manifestations of harderoporphyria.

We report four cases of Noonan syndrome associated with chronic myelomonocytic leukemia in childhood. These children shared some hematologic features: thrombocytopenia, splenomegaly in the first months of life, occurrence of chronic myelomonocytic leukemia without abnormalities of the initial bone marrow karyotype, and, in three cases, improvement of the hematologic disease. A common pathophysiologic process in such patients is suggested.

Resume Les auteurs rapportent leur experience personnelle de la spherocytose hereditaire (SH) a partir d'une serie de 88 patients (dont 74 enfants) sulvis entre les annees 1980 et 1994. Patients and methodes. — La gravite clinique est tres variable, allant des formes asymptomatiques aux formes severes necessitant des transfusion iteratives. Un retentissement sur la croissance est observe dans quatre cas et une fatigue chronique dans 30 cas. Quatre-vingt-dix-hult pour cent des enfants etudies ont un pourcentage anormalement eleve (>4%) de globules rouges (GR) hyperdenses (CCMH s 41 g/dL). L'etude en ektacytometrie revel, une courbe typique de SH avec une diminution constante de l'index de deformabilite maximale en isotomie, liee a la diminution de surface globulaire. La frequence des lithiases biliaires recherchee systematiquement en echographie est de 24%. Resultats. — Vingt-quatre des 30 patients splenectomises ont co une splenectomie subtotale, ne laissant en place qu'environ 25% du volume splenique normal pour l'age. L'amelioratiion postoperatoire a ete constante. marquee per une diminution franche de l'hemolyse avec allongement de la duree de vie des GR et augmentation significative de l'hemoglobine. Les fonctions phagocytaires de la rate restame paraissent conservees a en juger par le taux des pitted erythrocytes et la bonne captation du technetium 99m par le moignon splenique en scintigraphie. Cependant, un certain degre d'hemolyse persistait apres l'intervention et deux cas ont necessite secondairement une splenectomie totale; le risque de developper une lithiase billaire n a pas ete completement prevenu (trois cas). Conclusion. — La splenectommie subtotale nous parait representer une alternative interessante a la splenectomie totale. Elle permet d'obtenir des resultats hematologiques satisfaisants tout en protegeant a la fois des risques potentiels transfusionnels et des risques infectieux qui persistent toute leur vie chez les sujets ayant eu une splenectomie totale.

Myelodysplastic syndromes (MDS) in children constitute a heterogeneous disorder, including 'primary' MDS and MDS associated with constitutional abnormalities. The Franco-American-British (FAB) cytological classification for adults can be applied for childhood in 50 to 100% of the cases. The transformation into acute myeloblastic leukemia often occurs, but stabilisation or spontaneous regression of the disease may also be observed. The therapeutic decision is difficult because there is no predictive factor of the course of the disease. Allogenic bone marrow transplantation is the best curative option when treatment is necessary.

Total splenectomy eliminates the splenic destruction of erythrocytes with impaired deformability. However, concern has increased over the lifelong risk of overwhelming postsplenectomy infections in splenectomized patients, a risk reduced but not totally suppressed by appropriate prophylaxis. Partial splenectomy, as long as 80% to 90% of the enlarged spleen is removed and less than 25% of the normal spleen volume is retained, is a logical alternative, both preserving the phagocytic and immune function of the spleen and decreasing erythrocyte destruction. A 12-year experience has shown that subtotal splenectomy is efficient in decreasing hemolysis, although to a lesser extent than total splenectomy, with sustained results over years in most patients, and indirect evidence argues for the integrity of phagocytic function. Such a surgical procedure should be considered in transfusion-dependent infants with hereditary spherocytosis and in older patients with erythrocyte membrane defects, provided further follow-up confirms the experience of the past 12 years.

Myelodysplasia in childhood can be associated with constitutional abnormalities. Two main situations can be observed: constitutional diseases such as Down's Syndrome may be the first step of a malignant stem cell transformation leading to monoclonal hematopoiesis. However, in other situations such as mitochondrial cytopathies or other polymalformative syndromes, myelodysplasia may simply be the hematological expression of a multi-tissue constitutional disease. In such cases, the bone marrow karyotype is usually found to be normal and, in affected females, clonality studies show a polyclonal pattern. Clonality assessment should be, when possible, a mandatory step before any major therapeutic decision during the course of childhood myelodysplasia.

Resume Les atteintes hematologiques au cours de la sarcoidose de l'enfant sont rares. Observations - Le patient 1 a dans ses antecedents unepisode d'anemie hemolytique severe, spontanement regressive apres une transfusion,a11 mois, et le patient 2 une anemie hemolytique auto-immune regressive apres corticotherapie, associeeaune thrombopenie auto-immune persistantea3 ans. Tous deux sont hospitalisesa6 et 7 ans respectivement pour recidive de l'anemie, associeeaune thrombopenie,aune volumineuse splenomegalie etaune hypogammaglobulinemie. Une splenectomie est realisee. L'elevation de l'enzyme de conversion, la presence de granulomesepithelioides et gigantocellaires dans la rate chez les deux enfants, l'apparition d'une pneumopathie interstitielle avec hyperlymphocytose pulmonaire chez le patient 1 et d'une nephrite interstitielle avec granulomesepithelioides chez le patient 2 conduisentaporter le diagnostic de sarcoidose. Conclusion. - L'association d'une anemie hemolytique, d'une thrombopenie, d'une hypogammaglobulinemie et d'une volumimeuse splenomegalie chez l'enfant doit faireevoquer le diagnostic de sarcoidose et pourrait constituer une entiteparticuliere de la maladie.

Resume Les hyperplaquettoses (synonymes: thrombocytoses, thrombocytemies) de l'enfant semblent frequentes. La frequence reelle ne peut etre estimee que depuis quelques annees, depuis l'introduction systematique des comptes de plaquettes par les compteurs automatiques d'hemogramme. Alors que chez l'adulte les hyperplaquettoses sont le plus souvent primitives (thrombocytemie essentielle), entrant dans le cadre des syndromes myeloproliferatifs, elles sont dans la grande majorite des cas secondaires et de tres bon pronostic chez l'enfant. Leur decouverte impose une enquete etiologique mais ne necessite le plus souvent aucun traitement.

Clinical manifestations of hereditary spherocytosis (HS), the most common red blood cell (RBC) membrane disorder, can be abrogated or markedly reduced by splenectomy. However, concerns regarding risks from overwhelming infections after splenectomy have restricted its use, especially in children. This study was designed to determine if partial splenectomy can decrease the hemolytic rate while maintaining phagocytic function of the spleen. Partial splenectomy was performed in 11 children (age 2 to 13) with HS. The effect on hemolytic rate was assessed by comparing the presurgical and postsurgical values for hemoglobin, reticulocyte number, and RBC life span. The residual splenic phagocytic function was assessed using technetium 99m scans and by enumerating the percentage of pitted RBCs in circulation. There were no complications from the surgical procedure in any of the 11 individuals. Following partial splenectomy, hemoglobin increased on the average by 3 g/dL, reticulocyte count decreased by 300 x 10(6)/L, and RBC life span was substantially prolonged. Normal technetium uptake was noted in the splenic remnant and the percentage of pitted RBCs was in the normal range. Partial splenectomy is effective in decreasing the hemolytic rate while maintaining residual splenic phagocytic function of the spleen in HS. We conclude that the use of this procedure as treatment for RBC membrane disorders warrants consideration, especially in infants under 5 years of age who need frequent transfusions.

A new megathrombocytopenic syndrome with giant platelets in peripheral blood and severe thrombocytopenia was diagnosed in a 4-month-old boy. His clinical course included repeated hemorrhagic incidents leading to death at age 37 months. Bone marrow ultrastructural analysis revealed numerous dystrophic megakaryocytes with giant membrane complexes. Although these features were similar to those described for megakaryocytes in mice lacking the gene for transcription factor p45-NF-E2, no abnormalities in the p45-NF-E2 gene could be documented. Platelet membrane analysis showed a reduction in glycoprotein (GP) Ib, but normal content of GPIIb and GPIIIa. Analysis of genes encoding for GPIb alpha and beta, GPV, and GPIX ruled out the possibility that the observed platelet abnormality is a variant of Bernard-Soulier syndrome. A moderate neutropenia was associated with a complete lack of expression of sialyl-Lewis-X on the surface of polymorphonuclear neutrophils. A common defect in posttranslational modification of glycoproteins could account for the diverse cellular abnormalities.

Over the last two decades liver transplantation for children (pLT) with life-threatening acute or chronic liver diseases has yielded high long-term success rates. Long-term follow-up of pLT recipients has focused mainly on somatic complications (infections, chronic rejection, biliary problems, cancer occurrence, etc.). Other studies have examined precise aspects of everyday life, and particularly health-related quality of life. In contrast, no global surveys of everyday life, including educational and vocational issues, academic performance, personal feelings and concerns and at-risk behaviors have yet been carried out among adults who received liver grafts during childhood. We conducted a global survey of these young adults' everyday lives.The study was based on a structured questionnaire administered during phone interviews. One hundred sixteen pLT patients managed in a single pediatric liver unit since 1986 were interviewed between April 2005 and July 2006 by the same pediatrician (JPD), who was not involved in their personal medical management. Mean age at interview was 21 +/- 4 (17-33) years; mean age at pLT was 7.0 +/- 4.6 (0.5-16) years; and the mean and median follow-up periods after LT were respectively 13.9 +/- 3.9 years and 15 years. Three-quarters of the patients said they were satisfied with their quality of life and 81% were satisfied with their health status. A significant difference in the age at which LT was performed was found between patients reporting "good or very good" quality of life and patients reporting "neither good nor bad" quality of life (mean age at LT 6.2 +/- 4.1 vs 9.4 +/- 1.4 years; p = 0.0002). Two-thirds of the patients were still attending school. One-third were in age-appropriate school grades, and 31%, 23% and 13% were respectively 1, 2 and 3 years behind. Twenty-five per cent of patients were in paid employment and 12% were unemployed. Reported at-risk behaviors (tobacco and cannabis use) were not more frequent than among these patients' peers, and alcohol consumption was significantly lower (p0.0001). Strict adherence to medications was reported by only 55% of patients. Concerns about their future health were expressed by 53% of patients. Many patients were reluctant to speak openly to their peers about their LT status. The vast majority of patients wished to discuss personal problems with a physician (quality of life, vocational problems, future health, sexuality, pregnancy), and also wanted more medical information from caregivers. A large majority of young adults transplanted during childhood have good quality of life. Educational level and academic performance are lower than among these patients' peers. This study highlights personal difficulties encountered by a noteworthy proportion of young adults transplanted during childhood. This needs to be taken into account both by pediatricians and by adult medical care providers.

A good use of the child health record requires the respect of the confidentiality without compromising its informativeness. The maintenance of the confidentiality must be the subject of specific measurements in very particular cases like the infection by the HIV. The experts must be conscious that the personal child health record remains a tool for bond between the various professionals of health, in particular for an optimal follow-up of the growth and psychomotor development of the child. A specific teaching concerning the good use of the health record is wished in the course of the studies of medicine.

Background & Aims:Autoimmune hepatitis (AIH) type 2 is identified by the presence in the serum of anti-liver/kidney microsome type 1 autoantibody. Anti-liver cytosol autoantibody has been reported in children with autoimmune liver disorders mostly in association with anti-liver/kidney microsome reactivity. However, its role as a sole marker of AIH type 2 is debated. We describe here a series of 18 children and adolescents (15 girls, 3 boys) with AIH with serum anti-liver cytosol type 1 (aLC1) as the only autoimmune marker. Methods:A retrospective review was conducted from 3 pediatric hepatology units of all children with an autoimmune liver disease associated with aLC1 as found by immunofluorescence and/or immunodiffusion or immunoblotting. Results:Age at first symptoms ranged from 11 months to 14 years; 12 children presented with acute hepatitis, 1 with progressive jaundice, and 5 were asymptomatic. Anti-liver/kidney microsome, antimitochondria, and anti-actin autoantibodies were not detected. Signs of cirrhosis were present in 11 children. Immunosuppressive treatment was effective in all except 2 children who had subfulminant hepatic failure and who required liver transplantation. Sixteen patients (14 with their native liver) currently are alive; 14 patients still are on immunosuppressive therapy after 1 to 22 years. According to the international scoring system for the diagnosis of AIH, 16 patients corresponded to a definite diagnosis and 2 corresponded to a probable diagnosis. Conclusions:The presence of aLC1 in children with acute or chronic liver disease of unknown origin strongly supports a diagnosis of AIH and is an indication for early immunosuppressive therapy.

The authors report a case of septic venous sinus thrombosis (VST) and meningitis occurring as an early complication of mastoiditis caused by Fusobacterium necrophorum. CT scan was normal, and cerebral angiography was required to diagnose the VST. The evolution was favourable with appropriate antimicrobial therapy and steroids.

Clinical manifestations of hereditary spherocytosis (HS) can be abrogated by splenectomy. However, concerns exist regarding exposure of patients to a lifelong risk for overwhelming infections and, to a lesser extent, to vascular complications after total splenectomy. In the search for alternative treatment modalities, we assessed, in a previous pilot study, the potential usefulness of subtotal splenectomy in a small population of patients. During a mean follow-up period of 3.5 years, subtotal splenectomy was shown to be effective in decreasing the hemolytic rate, while maintaining the phagocytic function of the spleen. In the current study, we evaluated the clinical and biologic features of 40 patients with HS who underwent subtotal splenectomy and were monitored for periods ranging from 1 to 14 years. The beneficial effect of subtotal splenectomy included a sustained decrease in hemolytic rate and a continued maintenance of phagocytic function of the splenic remnant. However, mild-to-moderate hemolysis was persistent and accounted for secondary gallstone formation and aplastic crisis in a small subset of patients. Surprisingly, regrowth of the remnant spleen did not seem to have a major impact on the beneficial outcomes of these individuals. Our results suggest that subtotal splenectomy appears to be a reasonable treatment option for management of patients with HS, especially young children.

Castleman disease is a distinct lymphoproliferative disorder of unknown origin. Seven new cases in children are reported here and 76 cases from the paediatric literature are reviewed. The disease has been reported in 46 females and 37 males, their age ranging from 2 months to 17 years. The disease was localized in 72 cases and multicentric in 11 cases. The hyalinovascular type was more frequently encountered (54%) than the plasma cell type (24%). Laboratory abnormalities were more often associated with the plasma cell type and were mainly represented by anaemia and hypergammaglobulinaemia. Treatment of the localized tumour consisted of surgical excision, whereas treatment of the multicentric form was medical, comprising prednisone and other immunosuppressor drugs. The disease in the paediatric population seems to have a more favourable course than in adults.The paediatric features of the disease suggest that Castleman disease in this population could represent an earlier form of the pathology or even suggest a benign lymphoproliferative disorder.

We report here the clinical response to low-dose arabinosyl cytosine (Ara-C) in seven children with Down syndrome (DS) and acute leukemia in which blast cells express markers of erythroid and/or megakaryoblastic lineages. Following an initial course of treatment with Ara-C, complete remission was obtained in all seven patients. Maintenance therapy with Ara-C was continued during complete remission. Four patients subsequently relapsed; the three others are disease-free. Based on these data, we suggest that when conventional therapy is contraindicated by associated malformations, low-dose Ara-C can be used for treating DS patients with erythroblastic or megakaryoblastic leukemia. The aim of this study was to assess the efficacy of low-dose Ara-C in treating megakaryoblastic and/or erythroblastic leukemia associated with DS.Seven patients with DS presented with leukemia in which blast cells displayed early markers of the erythroblastic and/or megakaryoblastic lineage. Low-dose subcutaneous Ara-C (10 mg/m2 two times per day) was given for 21 days as induction therapy, followed by a 5-10-day course each month for 2 years as a maintenance treatment.Low-dose Ara-C treatment resulted in complete remission in all seven patients and in long-term disease-free survival in three patients.In cases in which conventional chemotherapy is contraindicated, low-dose Ara-C should be considered as a therapeutic alternative for treatment of DS-associated erythroblastic or megakaryocytic leukemia.

Acute lymphoblastic leukemia was diagnosed in an 11-year-old girl with mild signs of Down's syndrome. She was known since birth to have a constitutional mosaicism ( 46, XX 47, XX + 21c). At initial diagnosis of acute leukemia, additional chromosome changes were found in bone marrow blasts: hyperdiploidy >50, with a structural abnormality. She was treated with a standard chemotherapeutic protocol, and has remained in complete remission for more than 3 years. The constitutional mosaicism evolved toward normalization year after year in the blood and under the effect of chemotherapy in the bone marrow.

Three children with Kawasaki disease had liver biopsies because of evidence of hepatic disease. Cholangitis or bile duct injury and proliferation were found. Similar damage to the hepatic ductular system may explain the hydrops of the galibiadder sometimes seen in this disease.

SUMMARY The synthesis of glucocorticoids and mineralocorticoids in vitro was studied in an adrenocortical carcinoma after ablation from an 11·5-year-old boy. This patient had been unsuccessfully treated with high doses of o,p′-dichlorodiphenyldichloroethane (o,p′-DDD) and aminoglutethimide. These in-vitro results were compared with those obtained with another adrenocortical carcinoma removed from a 26-year-old woman who had received no preoperative treatment. The sensitivity of these adrenocortical carcinomas to o,p′-DDD, aminoglutethimide and 2-(p-aminophenyl)-2-phenylethylamine (SKF 12185) was investigated. Synthesis of cortisol (47%) and corticosterone (45%) in control incubations showed that 11β-hydroxylase activity was not affected by the treatment. This explains the raised level of plasma cortisol in the treated child. All three compounds inhibited both 11β-hydroxylase and 18-hydroxylase activities up to 95%, depending on the inhibitor. This study shows (a) an inhibitory effect of o,p′-DDD on the steroidogenesis of an adrenocortical carcinoma in vitro, an effect not previously reported in man or laboratory animals, and (b) the in-vitro efficacy of o,p′-DDD and aminoglutethimide on corticosteroidogenesis by a carcinoma unresponsive to treatment in vivo. This discrepancy between data obtained in vivo and in vitro could possibly be explained by either an insufficient ratio of ingested dose: tumour mass, or a malabsorption of the drugs in this patient.

We report two cases of childhood myelodysplasia (MDS) related to a mitochondrial (mt) cytopathy that illustrate the difficulty in recognizing such disorders in patients with solely haematological signs. Both patients have refractory anaemia with ring sideroblasts and vacuolization of haemopoietic precursors. These cytological features are similar to those observed in Pearson's disease, recently identified as a mitochondrial disease, and are strongly suggestive of a mitochondrial enzyme defect. The diagnosis of mitochondrial cytopathy was established on Southern blotting of mt DNA, showing a mt DNA deletion, or on the impairment of the respiratory chain enzyme activities. The absence of cytogenic abnormalities, and the polyclonal pattern of peripheral neutrophil and lymphocyte fractions, suggest that, in mt cytopathies, MDS cannot be considered as a truly malignant disorder.