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Archives de Pédiatrie 07/2008; 15(6):1124-5. · 0.30 Impact Factor
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Archives de Pédiatrie 07/2003; 10(6):497-8. · 0.30 Impact Factor
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ABSTRACT: A North African boy, the son of consanguineous parents, presented at 8 years of age with hypophosphataemic rickets due to De Toni-Debré-Fanconi syndrome. Hepatomegaly and abnormalities of carbohydrate metabolism were suggestive of Fanconi-Bickel syndrome. This was confirmed by the detection of a mutation within GLUT2, the gene encoding the liver-type facilitative glucose transporter. The study of the respiratory chain revealed a deficiency of complexes I, III and IV in muscle. Mechanisms responsible for an impairment ofmitochondrial function, which we interpret as a secondary phenomenon, are discussed.
Journal of Inherited Metabolic Disease 10/2002; 25(5):379-84. · 3.58 Impact Factor
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ABSTRACT: Bromocriptine combined with galactose restriction in the matenal diet seems to be partially effective in decreasing endogenous lactose and galactose synthesis, monitored in a pregnant woman heterozygous for galactosaemia at risk of producing a homozygous infant.
Journal of Inherited Metabolic Disease 09/2001; 24(4):507-8. · 3.58 Impact Factor
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ABSTRACT: Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose-6-phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X).
Human Mutation 12/2000; 16(5):444. · 5.69 Impact Factor
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Journal of Pediatric Gastroenterology and Nutrition 09/2000; 31(2):190-2. · 2.30 Impact Factor
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ABSTRACT: In patients with glycogen storage disease type Ia (glucose-6-phosphatase deficiency), serum triglyceride concentrations are markedly raised, whereas phospholipids and cholesterol levels are only moderately elevated. In addition, both VLDL and LDL lipoprotein fractions are raised. Despite these abnormalities, endothelial vascular dysfunction and atherosclerosis seem to be rare in such patients. In view of the crucial role of apolipoprotein E (apoE) in lipid metabolism, we studied both apoE polymorphism (40 patients) and serum concentration (20 patients) in patients with glycogen storage disease type Ia. The distribution of each allele at the apoE locus was similar to that reported in the general population, whereas serum apoE concentrations were raised in our patients. Raised apoE levels in the serum could play an important role in counterbalancing the at-risk-for-atherosclerosis lipid profile of patients with glycogen storage disease type Ia. Moreover, E3 and E4 polymorphisms, predominant in our patients, have a high triglyceride binding capacity and are thus able to increase triglyceride clearance. However, the origin of raised concentrations of apoE is not completely clear though, bearing in mind previous reports regarding serum protein concentrations in such patients, increased hepatic synthesis is likely.
Journal of Inherited Metabolic Disease 04/2000; 23(2):107-12. · 3.58 Impact Factor
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ABSTRACT: Jaundice associated with hypertrophic pyloric stenosis was recognised in three patients; previous reports have suggested that this is a possible early manifestation of Gilbert syndrome. Most patients with Gilbert syndrome are homozygous for a (TA)(7)TAA polymorphism in the gene promoter coding for bilirubin glucuronosyltransferase. Two of the reported patients were homozygous for the (TA)(7)TAA polymorphism whereas the third was heterozygous for the same polymorphism. Furthermore, no other factors contributing to jaundice in the three patients were found. These results suggest that jaundice associated with hypertrophic pyloric stenosis is due to molecular defects within the gene promoter.
Archives of Disease in Childhood 11/1999; 81(4):301-3. · 2.88 Impact Factor
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ABSTRACT: An 18-month-old girl presented with macrocytic megaloblastic anaemia followed by haemolytic uraemic syndrome. Metabolic investigations led to the identification of an inborn error of cobalamin metabolism consisting of defective methylcobalamin biosynthesis, probably cobalamin G, since methionine synthase activity was decreased under standard reducing conditions. Despite treatment, pulmonary hypertension progressively developed and responded to oxygen therapy. Renal involvement evolved to terminal failure and haemodialysis, while pulmonary hypertension was controlled by oxygen therapy. Such clinical manifestations have never been reported in association with a defect of methylcobalamin and thus of methionine biosynthesis. A congenital abnormality of cobalamin metabolism was suspected then confirmed in the presence of typical haematological features associated with unusual clinical manifestations such as progressive renal failure and pulmonary hypertension.
European Journal of Pediatrics 10/1999; 158(9):734-9. · 1.88 Impact Factor
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ABSTRACT: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive condition, caused by a deficiency of hepatic glucose-6-phosphatase (G6Pase) activity. In a consanguineous family originating from northern Africa whose first daughter was affected with GSD Ia, we were able to identify the disease-causing mutation, a cytosine to thymine substitution at nucleotide 326 in exon 2 of the G6Pase gene (R83C). This mutation causes the disappearance of an HgaI site, and is thus easily detectable by restriction enzyme digestion. Both parents were heterozygous for this mutation. During the third pregnancy, fetal genomic DNA was extracted from a chorionic villus biopsy sampled at the 24th week of gestation. Exons 2 of the G6Pase gene were amplified by the polymerase chain reaction followed by HgaI digestion. Fetal DNA analysis indicated that the fetus had received both normal G6Pase alleles. This result was confirmed after birth. DNA analysis is the only reliable method for prenatal diagnosis of GSD Ia.
Prenatal Diagnosis 07/1998; 18(6):629-31. · 2.11 Impact Factor
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ABSTRACT: Hepatocellular adenomas may develop in patients with glycogen storage disease types I and III, and the malignant degeneration of adenomas in hepatocellular carcinoma has been reported in ten cases. The aim of this work was to study the characteristics of hepatic adenomas in a large series of 43 patients with glycogen storage disease types I and III and to determine the optimal means of follow-up.
The charts of 43 patients with glycogen storage disease type I and III were studied. In all these patients, abdominal ultrasonography and the determination of serum alpha-fetoprotein had been performed yearly and serum concentrations of several proteins were determined once.
51.8% of patients with type I and 25% of patients with type III glycogen storage disease had hepatic adenomas at the time of the study. The male to female ratio was 2 to 1 in type I, and no female had adenomas in type III. No evidence of malignant transformation was observed during the follow-up period. Serum concentrations of several proteins were significantly higher in patients with hepatic adenomas than in patients without such lesions.
In patients with glycogen storage disease type I and III, the determination of alpha-fetoprotein serum concentration has to be combined with yearly hepatic ultrasound examinations. Other investigations such as CT scan should be considered when the size of any adenoma increases. The malignant transformation of hepatocellular adenoma into hepatocellular carcinoma remains a rare event.
Journal of Pediatric Gastroenterology and Nutrition 04/1997; 24(3):276-9. · 2.30 Impact Factor
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European Journal of Pediatrics 12/1996; 155(11):990. · 1.88 Impact Factor
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C N van der Veere,
M Sinaasappel,
A F McDonagh,
P Rosenthal,
P Labrune, M Odièvre,
J Fevery,
J B Otte,
P McClean,
G Bürk,
V Masakowski,
W Sperl,
A P Mowat,
G M Vergani,
K Heller,
J P Wilson,
R Shepherd,
P L Jansen
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ABSTRACT: This study represents a multicenter survey on the management of patients with Crigler-Najjar syndrome (CNS) type 1. The aim of the survey was to find guiding principles for physicians in the care of these patients. Fifty-seven patients were included. At the time of inclusion, 21 patients had received a liver transplant (37%). The average age at transplantation was 9.1 +/- 6.9 years (range, 1-23 years); the age of the patients who had not been transplanted at the time of inclusion was 6.9 +/- 6.0 years (range, 0-23 years). Brain damage had developed in 15 patients (26%). Five patients died, and 10 are alive with some degree of mental or physical handicap. In 2 patients, ages 22 and 23 years, early signs of bilirubin encephalopathy could be reversed, in 1 by prompt medical intervention followed by liver transplantation and in the other by prompt liver transplantation. Seven patients underwent transplantation with some degree of brain damage at the time of the surgery; 1 of these died after retransplantation, 2 improved neurologically, and 4 remained neurologically impaired. The age of 8 patients with and 13 without brain damage at or before transplantation was 14.3 +/- 5.9 and 5.9 +/- 5.4 years (P < .01), respectively. Therapy of CNS type 1 consists of phototherapy (12 h/d), followed by liver transplantation. Phototherapy, although initially very effective, is socially inconvenient and becomes less efficient in the older age group, thus also decreasing compliance. Currently, liver transplantation is the only effective therapy. This survey shows that, in a significant number of patients, liver transplantation is performed after some form of brain damage has already occurred. From this, one must conclude that liver transplantation should be performed at a young age, particularly in situations in which reliable administration of phototherapy cannot be guaranteed.
Hepatology 09/1996; 24(2):311-5. · 11.66 Impact Factor
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ABSTRACT: Two infants, aged 8.5 and 11 months, were admitted for meningitis caused by Streptococcus pneumoniae. Failure of cefotaxime led to the identification of highly penicillin-G-resistant strains. Minimum inhibitory concentrations (MICs) for penicillin were > 2 micrograms/ml, and cefotaxime MICs were 2 micrograms/ml. Both patients rapidly responded to a combination of i.v. imipenem and rifampicin. It is now mandatory to test in-vitro susceptibilities of Streptococcus pneumoniae to penicillin G and other beta-lactam agents when meningitis is diagnosed in infants.
Acta Paediatrica 07/1995; 84(7):831-3. · 2.07 Impact Factor
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ABSTRACT: Lipid pneumonia in children has rarely been described in Europe. In some countries, due to local customs, the course is chronic. This study describes an acute lipid pneumonia in a young boy.
A 12 year-old boy, previously treated for a rhabdomyosarcoma, developed acute fever with thoracic pain. A chest radiograph revealed heterogenous consolidation. The patient was given oral antibiotics, although no improvement was observed. The diagnosis of lipid pneumonia was made by a bronchoscopy with bronchoalveolar lavage. Treatment with corticosteroids was started. Clinical manifestations improved rapidly. One month later, chest radiograph and biological findings were normal.
Diagnosis of lipid pneumonia should be considered in children with an acute febrile pneumonitis non resolving with antibiotic treatment. Examination of the fluid obtained by bronchoalveolar lavage confirms the diagnosis.
Archives de Pédiatrie 02/1995; 2(1):39-42. · 0.30 Impact Factor
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ABSTRACT: Crigler-Najjar syndrome type I (CN-I) is an autosomal recessive condition characterized by severe unconjugated hyperbilirubinemia caused by the lack of bilirubin-UDP-glucuronosyltransferase (B-UGT) activity in the liver. Two B-UGTs are coded for by a gene complex (UGT1) that maps to chromosome 2q37 and that also encodes two phenol-UDP-glucuronosyltransferases. Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R). Interestingly, 6/14 mutant alleles carried by unrelated probands of French ancestry bore the A401P mutation, indicating a founder effect; this effect is probably also present in Portugal, Turkey, and Tunisia. Since mutations occurred in exons 2-5 shared by all mRNAs species of the gene, a combined deficiency of B-UGT and P-UGT was observed in the liver of five patients in whom these activities were measured. The present study confirms that CN-I is genetically heterogeneous and suggests that different founder effects are involved in Western Europe, the Middle East, and North Africa.
Human Genetics 01/1995; 94(6):693-7. · 5.07 Impact Factor
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ABSTRACT: A 2.5-month-old infant had Sweet syndrome. Chronic granulomatous disease was subsequently diagnosed by the nitroblue tetrazolium reduction test. To date, this infant is the youngest reported with Sweet syndrome. Moreover, the association of chronic granulomatous disease with this syndrome has not been previously described. The precise relationship between the conditions remains to be determined. Granulocyte function should be evaluated in any infant with Sweet syndrome.
Pediatric Dermatology 10/1994; 11(3):237-40. · 1.07 Impact Factor
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Archives de Pédiatrie 05/1994; 1(4):411-3. · 0.30 Impact Factor
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ABSTRACT: Seven patients with glycogen storage disease type Ib suffering from severe and/or recurrent bacterial infections were treated with glycosylated recombinant G-CSF (Lenograstim). Mean follow up was 20.8 months (range 9-30 months). In all cases a median dose of 5 micrograms/kg/day resulted in rapid clinical improvement, associated in 6/7 with an increase in absolute polymorphonuclear (PMN) count. In the remaining subject, a striking amelioration of infectious status contrasted with a persistently low PMN count. Liver transplantation in one patient resolved metabolic complications but did not improve PMN count or the infectious status, while neutropenia was corrected by G-CSF. Prevention of recurrent infections was achieved in all cases with intermittent therapy. Short term treatment was well tolerated, thrombocytopenia in two patients (WHO grade 0 and grade 3) recovering after decrease of G-CSF dosage.
Nouvelle revue française d'hématologie 02/1994; 35(6):529-34.
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ABSTRACT: Hepatic glycogen storage diseases are hereditary metabolic disorders involving the metabolism of glycogen. This study was designed to investigate the serum protein status in such diseases. Fifty-five patients with glycogen storage disease types I, III, VI, and IX, whose ages ranged from 1 month to 27 years, were included in this work. C-reactive protein, fibrinogen, alpha 2-macroglobulin, albumin, transferrin, fibronectin, retinol binding protein, and prealbumin serum concentrations were measured in each patient. In patients affected with type I glycogen storage disease, serum concentrations of alpha 2-macroglobulin, fibrinogen, C-reactive protein, and transferrin were significantly increased. In patients with types III, VI, and IX glycogen storage diseases, the concentration of alpha 2-macroglobulin was the only one that was significantly increased. Thus, even though this study raises more questions than it answers, it seems likely that the hepatic synthesis of some proteins may be increased in patients affected by hepatic glycogen storage diseases. This may indicate some degree of mild hepatic dysfunction in such metabolic disorders. However, further investigations are required to elucidate the discrepancies observed among the different types of diseases.
Journal of Pediatric Gastroenterology and Nutrition 02/1994; 18(1):41-4. · 2.30 Impact Factor
