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The authors studied the psychosocial adjustment of pediatric liver transplant (LT) recipients reaching adulthood. The study comprised phone interviews of 116 volunteers aged 17-33 years. Results were compared to those for healthy peers and 65 patients who were eligible for inclusion but did not participate. Participants' median age at LT was 6 years and the median period since LT was 15 years. Of the 116 participants, 76% considered their quality of life as good or very good. Seventy-five patients (65%) were attending schools, 27 of whom were 2 years or more below the age-appropriate level. Of the remaining 41 patients, 26 had a job and 15 were unemployed. Poor compliance with medications was reported by 52 patients (45%). Alcohol consumption was lower than in the reference population (p < 0.001). Anxiety, loneliness and negative thoughts were expressed by 53, 84 and 47% of the participants, respectively. Thirteen patients (11%) were being cared for by psychologists or psychiatrists. The 65 nonparticipants had greater psychological problems than the participants, and a lower educational level. In conclusion, after LT in early life, most patients displayed psychological vulnerability during early adulthood. The educational level of patients was lower than that of theirs peers.

Unlabelled: 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., Population and Methods: 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 (p<0.0001). 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.

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% <10, 32% among 10 to 16, 47.6% among 17 to 25, 41.7% among >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.

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 and 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.

Objective: To evaluate the completeness of personal child health record in France., Patients and Methods: Cross-sectional multicentric study, based on child health records analysed and parents' interviews; 1685 children were included: 863 infants aged from 12 to 18 month and 822 children aged from three and a half to four and a half years., Results: One Apgar score was recorded in 96% of cases; the sitting position's acquisition was registered in 91%; the age of walk in 81%. Growth curves were plotted in 64% of cases for weight and in 62% for height in infant's records and 22% of cases for both in older children's records. Ten per cent of the last visit to a physician were not recorded in infants health records, 19% in those of children; as well an hospitalisation for respectively 1,5% and 3,3% and a performed operation for 1,8% and 5,1% respectively. Immunization batches were exhaustively indicated in 68% and 50% of the records., Conclusion: Many important data for medical follow-up are missing in the child health records, especially for the oldest children. Physicians and parents should be incited to a better use of the personal record.

Unlabelled: The group of general paediatrics of the French Paediatrics Society conducted a case-control study in order to verify the link between the occurrence of an acute bronchiolitis early during the first year of life, more specifically during the first trimester, and asthma during later childhood., Methods: Parents of 4-to-12-year-old children answered a questionnaire during a general paediatrics visit. Exposition was attested by a diagnosis of bronchiolitis mentioned on the personal health record of the child. Environmental factors and medical history, obtained from the parents and by checking the health record of the child, were studied using multivariate analysis., Results: Nineteen paediatricians included 80 children with asthma and 160 controls. Fifty-four per cent of asthmatic children had a medical history of bronchiolitis during the first year of life versus 17% of control children (P < 0.001). Mean age of bronchiolitis occurrence was 6.6 months in both groups (P = 0.98). Multivariate analysis showed that occurrence of bronchiolitis during the first year of life was significantly more frequent in asthmatic children (P < 0.001, OR = 5.6, IC95 = [2.6-11.6]) but this effect was not observed during the first trimester of life., Conclusion: Bronchiolitis during the first year of life was significantly related to later asthma in 4-to-12-year-old children treated by general paediatricians. On the other hand, a very early bronchiolitis during the first trimester of life did not appear, in our set of data, as a contributive factor to explain asthma in later childhood.

Objective: To determine the causes and to quantify the benefits obtained from further diagnostic investigations in children presenting with a non infectious inflammatory fever., Methods: The records of 62 children aged from two-months to 15 years (median: four years) admitted to a paediatric department between 1990 and 2000 for the evaluation of a fever associated to an inflammatory syndrome, defined as temperature over 38 degrees C with an increase of the erythrocyte sedimentation rate (ESR) more than 20 mm/h and/or a serum C-reactive protein level (CRP) > 20 mg/L, and excluding overt infectious diseases, were retrospectively reviewed., Results: Of these patients, 79% children (49 cases) had inflammatory systemic disease, 3.2% (two cases) had malignancy, and 17.8% (11 cases) had undiagnosed disorders. The most frequent disease was Kawasaki disease (22 children), especially in young children. Increase of ESR above 100 mm/h and of CRP above 100 mg/L was present in 59% of Kawasaki disease, 71% of idiopathic juvenile arthritis, 100% of malignancies and 7% of unknown diagnoses. Increase of ESR below 50 mm/h and of CRP below 50 mg/L was present in 75% of hemophagocytic syndromes and 46% of unknown diagnosis. The polymorphonuclear count, hepatic function evaluation, triglycerides levels, abdominal ultrasound, abdominal computed tomography, echocardiography, biopsies were useful diagnosis tools. Technetium scintigraphy was helpful only when abnormalities were found on physical examination., Conclusion: The diagnosis of Kawasaki disease must be quickly suspected in febrile young children with inflammatory syndrome without infection. ESR and CRP values, abdominal ultrasound and echocardiography are helpful tools for the diagnostic procedure.

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.

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.

We retrospectively analyzed the long-term outcome of idiopathic pulmonary hemosiderosis (IPH) in 15 children. IPH started at a mean age of 5 years, and the mean duration of follow-up was 17.2 years (range, 10-36 yr). Four patients developed immune disorders, 3 cases of rheumatoid polyarthritis or rheumatoid polyarthritis-like diseases and 1 case of celiac disease. Respiratory outcome showed that 3 patients had severe symptoms: 2 patients developed severe pulmonary fibrosis resulting in major chronic respiratory insufficiency, and 1 patient had severe asthma. Twelve patients (80%) had mild or no respiratory problems and were able to lead a normal life. According to chest X-ray and pulmonary function test data, 4 patients had normal chest X-ray and no evidence of restrictive syndrome, 6 patients had an interstitial pattern on chest X-ray and evidence of restrictive pattern, 1 patient had an interstitial pattern but normal lung function, and 1 patient had a normal chest X-ray but evidence of mixed obstructive and restrictive pattern. Our results show that long-term survival is possible in patients with IPH. Factors of poor prognosis seem to be the presence of antineutrophil cytoplasm antibodies (ANCA) or other autoantibodies. No other clinical or biological predictive factors for prolonged survival were found.

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.

Unlabelled: 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., Conclusion: 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 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).

Unlabelled: We analysed retrospectively 11 children with renal granulomatous sarcoidosis confirmed by renal histology in order to describe the course and prognosis of the disease. Symptomatic sarcoidosis was diagnosed at a mean age of 10.1 years. Nine children had renal involvement at the time of diagnosis. In the course of the disease, nine patients developed renal failure and mild proteinuria, seven had transient sterile leukocyturia, four showed microscopic haematuria, seven had a urinary concentrating defect, and enlarged kidneys were seen in three patients. One child had hypercalcaemia and hypercalciuria, none had hypertension. Light microscopy of the kidney showed interstitial infiltration by mononuclear cells in all children, interstitial fibrosis in nine patients, epithelioid granulomas in seven, tubular involvement in eight, and mild glomerular involvement in seven patients. Renal immunofluorescence was negative. Ten children received prednisone for 1-11 years. After a mean follow up of 5.5 years, three patients had entered end-stage renal failure and one had chronic insufficiency after interruption of medical supervision and prednisone therapy., Conclusion: Renal failure, proteinuria, leukocyturia, haematuria, and concentration defect are the prominent features of renal granulomatous sarcoidosis in children. Steroid therapy, adjusted according to disease activity, may prevent end-stage renal failure.

Background: Benign intracranial hypertension is due to an increased intracranial pressure of unknown cause. The initial symptoms, complications and associations with medical conditions are discussed., Case Report: A 6-year-old girl developed symptoms of benign intracranial hypertension following reduction of oral corticosteroid therapy. Laboratory studies and head-computed tomographic scan were normal. Examination of the optic discs showed bilateral papilledema and the cerebrospinal fluid pressure was increased. The patient was given prednisone therapy 1 mg/kg daily initially, associated with acetazolamide, and removal of 25 mL of cerebrospinal fluid. All the symptoms resolved and the treatment was gradually decreased. The child developed no further visual failure., Conclusion: Benign intracranial hypertension with the risk of permanent visual loss is a complication underrecognized in children. All patients receiving large doses of the corticosteroids who complain of headache or blurring vision, particularly following a reduction of corticosteroid dosage, should have an ophtalmoscopic examination to exclude this complication.

Dehydrated hereditary stomatocytosis is a haemolytic anaemia with an underlying impairment of monovalent cation transport. It is sometimes associated with pseudohyperkalaemia (e.g. an increase of kalaemia when blood is left at room temperature) or with perinatal ascites. We report a case in which dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema coexisted, and were transmitted en bloc in a dominant fashion. Transfusions did not cure the oedema, that spontaneously receded after a few months. We assume that the various manifestations stemmed from one single altered locus, yet to be determined.

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.