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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.

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).

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.

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.

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.

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.

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.