Search

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.

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.

Dehydrated hereditary stomatocytosis (DHS) is a rare genetic disorder of red cell permeability to cations, leading to a well-compensated hemolytic anemia. DHS was shown previously to be associated in some families with a particular form of perinatal edema, which resolves in the weeks following birth and, in addition, with pseudohyperkalemia in one kindred. The latter condition was hitherto regarded as the separate entity, "familial pseudohyperkalemia." DHS and familial pseudohyperkalemia are thought to stem from the same gene, mapping to 16q23-q24. This study screened 8 French and 2 American families with DHS. DHS appeared to be part of a pleiotropic syndrome in some families: DHS + perinatal edema, DHS + pseudohyperkalemia, or DHS + perinatal edema + pseudohyperkalemia. If adequately attended to, the perinatal edema resolved spontaneously after birth. Logistic regression showed that increased mean corpuscular volume and mean corpuscular hemoglobin concentration were the parameters best related to DHS. In patients in whom cation fluxes were investigated, the temperature dependence of the monovalent cation leak exhibited comparable curves. Specific recombination events consistently suggested that the responsible gene lies between markers D16S402 and D16S3037 (16q23-q24). The 95% confidence limits (Z(max) >/= 3.02) spanned almost the complete 9-cM interval between these 2 markers.

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.

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.

Sideroblastic anemia associated with vacuolization of haemopoietic precursors can be observed in some constitutional diseases associated with mitochondrial DNA deletion. In this condition, it is the haematological expression of a multi-tissue disorder. Haemopoiesis is polyclonal, without abnormality of nuclear DNA differing from the acquired idiopathic sideroblastic anemias which arise from a clonal transformed stem cell. This model of childhood polyclonal myelodysplasia can be observed in others myelodysplasias associated with constitutional polymalformative syndromes.

Background: Effectiveness of subtotal splenectomy, a procedure recently advocated as an alternative treatment to total splenectomy for patients with hereditary spherocytosis (HS), has been evaluated., Methods and Patients: Eighty-eight patients (74 children) with HS were included in this series. Clinical presentations ranged from asymptomatic cases to severe transfusion-dependent forms. Stunting of growth occurred in four cases; chronic fatigue was observed in 30 cases and cholelithiasis in 21 cases. Among the red cell indices measured by laser light scattering on Technicon H2, the most reliable for diagnosis was the abnormal percentage of hyperdense red cells (98% of HS patients). Osmotic gradient ektacytometry, used to measure membrane deformability and impairment of maximal deformability due to a reduction of erythrocyte surface, always showed the characteristic curves of HS., Results: Subtotal splenectomy was performed in 24 patients leading to a remnant spleen of about 25% of normal for age volume. This decreased the hemolytic rate while adequately sustaining the phagocytic function of the spleen (assessed by percentage of "pitted erythrocytes" and technetium 99n scans of the remnant). However, the observed reduction in hemolytic rate was not as extensive as that observed after total splenectomy (six cases) and subtotal splenectomy did not entirely prevent risk of cholethiasis (three cases)., Conclusion: This subtotal splenectomy (+/-cholecystectomy) has to be particularly considered for children with transfusion-dependent forms of HS, in order to obtain the benefits of increased hemoglobin levels without the pending risk throughout life of overwhelming post-splenectomy infections.

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.

Background: Hematological changes are uncommon in childhood sarcoidosis., Case Report: Case 1. This patient developed severe hemolytic anemia associated with splenomegaly at the age of 11 months. A second episode of hemolysis was seen at the age of 6 years; it was associated with thrombocytopenia and hypogammaglobulinemia. A partial splenectomy permitted histological diagnosis of sarcoidosis that was confirmed by elevated angiotensin-converting enzyme level, and subsequently developement of pulmonary involvement. Case 2. This boy suffered from autoimmune hemolytic anemia and thrombocytopenia associated with splenomegaly at the age of 3 years. At the age of 7 years, he had splenomegaly, enlarged cervical and lomboaortic lymph nodes and hypogammaglobulinemia. Diagnosis of sarcoidosis was made from lymph nodes and spleen biopsies after splenectomy; the patient had increased angiotensin-converting enzyme concentration, and subsequently developed specific renal involvement., Conclusion: Association of hemolytic anemia, thrombocytopenia, hypogammaglobulinemia and splenomegaly should suggest the diagnosis of sarcoidosis and could be considered as part of the disease spectrum.

Background: Neuroradiological features of hypertensive encephalopathy are not yet well-known., Patients and Methods: The clinical manifestations, neuroradiological aspects and treatment of four patients suffering from hypertensive encephalopathy were studied; special attention was paid to manifestations presented by one patient which appeared representative of the usual manifestations of hypertensive encephalopathy., Results: The main clinical features were visual disturbances (n = 4); altered consciousness (n = 2) and seizures (n = 3). Visual disturbances resulted from cortical lesions (n = 4) associated with optic nerve damage and retinopathy (n = 2). Cerebral imaging showed low density images (CT scan) and hypersignal (MRI, T2 sequence) located in parieto-occipital cortical ribbon and adjacent white matter from the first 24 hours following the onset of neurologic symptoms. In the studied patient, the abnormal images resolved within 1 month after the onset of the disease. Unilateral infarction of the anterior visual pathway affected two patients in whom: 1) hypertension remaining undetected for a long time was revealed by neurological signs; 2) visual impairment was preceded by an hypotensive episode induced by antihypertensive therapy., Conclusions: Neuroradiological features of hypertensive encephalopathy are useful in establishing the diagnosis. A gradual reduction of blood pressure could prevent the risk of visual complications.

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.