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Patients with type I glycogen storage disease (GSD) have poor tolerance to fasting, sometimes less than 3 hours during infancy. Even though most patients are able, as they get older, to tolerate a longer fasting period, they are at permanent risk for fast-induced hypoglycaemia, even in adulthood. Klüver Bucy syndrome, is characterized by psychic blindness (inability to recognize familiar objects), hypermetamorphosis (strong tendency to react to visual stimulus), increased oral exploration, placidity, indiscriminate hyper-sexuality and change in dietary habits. In this case report, we describe the development of Klüver Bucy syndrome in a 28-year-old man with type Ib GSD, following prolonged and severe hypoglycaemia triggered by a common respiratory infection.

Introduction La galactosemie est une maladie hereditaire rare du metabolisme du galactose qui touche 1 nouveau-ne sur 30 000 naissances. Les complications a long terme sont : l’insuffisance ovarienne prematuree (IOP), des troubles de la cognition, voire des sequelles neurologiques. Le nombre de cas en France n’est pas connu precisement. Methode En collaboration avec les centres de reference maladies rares, nous avons recueilli grâce a des questionnaires, les donnees de 103 patients (47 hommes et 56 femmes) dont des donnees cliniques, biologiques et echographiques. L’objectif est de mieux connaitre la puberte et la fertilite de ces patients et ainsi evaluer si la preservation ovarienne pourrait etre proposee. Resultats Chez 45 femmes, le developpement mammaire est apparu a un âge moyen de 12 ans avec une menarche spontanee a 14,6 ans en moyenne pour 25 d’entre elles. Soixante pour cent des patientes ont des cycles menstruels irreguliers et 50 % presentent une amenorrhee a un âge median de 30 ans [15 ; 42]. Le taux de FSH etait eleve quel que soit l’âge, avec de faibles taux d’AMH et d’inhibine B, de petits ovaires, sans aucun ou peu de follicules visibles en echographie. Cinq femmes ont essaye de concevoir, quatre ont reussi spontanement et une seule a beneficie d’un don d’ovocytes. Les 47 hommes avaient des bilans biologiques normaux, cependant, sans projet parental. Conclusion La puberte debute souvent spontanement, avec un delai plutot tardif. Ces donnees confirment l’insuffisance ovarienne prematuree. Cependant, des grossesses spontanees restent possibles ; la preservation ovarienne ne parait donc pas indiquee en premiere intention.

Hepatic glycogen storage diseases are rare inherited conditions affecting glycogen metabolism. During the last twenty years, medical progress has allowed children who used to die before they reached the age of ten years to reach adulthood. It is important to know the natural history and long-term outcome of these patients to improve their treatment during childhood. To reach this goal, collaboration between pediatric specialists and those who treat adults is essential.

UNLABELLED An adolescent was hospitalized for recurring abdominal pains, which had previously led to appendicectomy. Laboratory data finally led to the diagnosis of hereditary angioneurotic oedema, after several hypotheses had been raised and ruled out. CONCLUSIONS Angioneurotic oedema is a rare condition, which should be suspected in children with recurring abdominal pains, especially when there is liquid within the peritoneal cavity.

To elaborate and validate in general population a survey built with self-administered questionnaires in French about evaluation of sexual health for an application to men and women with metabolic disease.Study built with four questionnaires (socio-familial environment [MSPSS scale], self-esteem [Rosenberg scale], anxiety and depression scale [Sigmund and Snaith scale], and male [BISF-M] or female [BISF-W] sexuality) translated in French and distributed to 232 men and 260 women.Hundred and eleven men aged 18 to 56 years and 142 women aged 20 to 60 years answered the self-administered questionnaire. Analysis showed several links between self-esteem, anxiety and depression and the different domains of male sexuality, justifying their association. Comparison between men and women confirmed the differences of sexual approach between the two sexes.Results in our population were concordant with those already reported in literature, indicating the validity and the reliability of our questionnaire and its multiparametric approach. Data obtained in this population will allow to use this multiparametric tool with patients affected by a metabolic disease.

Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea). Patients have poor tolerance to fasting, marked hepatomegaly, growth retardation (small stature and delayed puberty), generally improved by an appropriate diet, osteopenia and sometimes osteoporosis, full-cheeked round face, enlarged kydneys and platelet dysfunctions leading to frequent epistaxis. In addition, in GSDIb, neutropenia and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphtous gingivostomatitis, and inflammatory bowel disease. Late complications are hepatic (adenomas with rare but possible transformation into hepatocarcinoma) and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal insufficiency). GSDI is caused by a dysfunction in the G6P system, a key step in the regulation of glycemia. The deficit concerns the catalytic subunit G6P-alpha (type Ia) which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib). Mutations in the genes G6PC (17q21) and SLC37A4 (11q23) respectively cause GSDIa and Ib. Many mutations have been identified in both genes,. Transmission is autosomal recessive. Diagnosis is based on clinical presentation, on abnormal basal values and absence of hyperglycemic response to glucagon. It can be confirmed by demonstrating a deficient activity of a G6P system component in a liver biopsy. To date, the diagnosis is most commonly confirmed by G6PC (GSDIa) or SLC37A4 (GSDIb) gene analysis, and the indications of liver biopsy to measure G6P activity are getting rarer and rarer. Differential diagnoses include the other GSDs, in particular type III (see this term). However, in GSDIII, glycemia and lactacidemia are high after a meal and low after a fast period (often with a later occurrence than that of type I). Primary liver tumors and Pepper syndrome (hepatic metastases of neuroblastoma) may be evoked but are easily ruled out through clinical and ultrasound data. Antenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villous cells. Pre-implantatory genetic diagnosis may also be discussed. Genetic counseling should be offered to patients and their families. The dietary treatment aims at avoiding hypoglycemia (frequent meals, nocturnal enteral feeding through a nasogastric tube, and later oral addition of uncooked starch) and acidosis (restricted fructose and galactose intake). Liver transplantation, performed on the basis of poor metabolic control and/or hepatocarcinoma, corrects hypoglycemia, but renal involvement may continue to progress and neutropenia is not always corrected in type Ib. Kidney transplantation can be performed in case of severe renal insufficiency. Combined liver-kidney grafts have been performed in a few cases. Prognosis is usually good: late hepatic and renal complications may occur, however, with adapted management, patients have almost normal life span. Disease name and synonyms Glucose-6-phosphatase deficiency or G6P deficiency or glycogen storage disease type I or GSDI or type I glycogenosis or Von Gierke disease or Hepatorenal glycogenosis.

Crigler-Najjar syndrome type I (CN-I, MIM #218800) is a rare and severe autosomal disorder. It is caused by deficiency of the liver enzyme responsible for bilirubin elimination, the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1; EC 2.4.1.17). Biologically, the disease manifests itself with severe and persistent unconjugated hyperbilirubinemia. Kernicterus is a well-known complication of severe unconjugated hyperbilirubinemia in infants and young children, especially in patients with CN-I.Few articles have shown the efficiency of plasmapheresis for extreme hyperbilirubinemia.In this report, we describe the efficiency of plasmapheresis for a rapid control of acute and severe unconjugated hyperbilirubinemia in a 6-year-old CN-I patient who had previously developed kernicterus in the neonatal period. In spite of intensification of phototherapy, the patient developed severe hyperbilirubinemia (up to 830 μmol/l, with bilirubin/albumin ratio at 1.2). With two plasmapheresis procedures, bilirubin serum concentration decreased to 420 μmol/ and bilirubin/albumin ratio to 0.55. Following the acute episode of very severe unconjugated hyperbilirubinemia, the child recovered and neurological examination was unchanged, thus suggesting that plasmapheresis possibly prevented further worsening of kernicterus.

Vincent Gajdos and colleagues report results of a randomized trial conducted among hospitalized infants with bronchiolitis. They show that a physiotherapy technique (increased exhalation and assisted cough) commonly used in France does not reduce time to recovery in this population., Background Acute bronchiolitis treatment in children and infants is largely supportive, but chest physiotherapy is routinely performed in some countries. In France, national guidelines recommend a specific type of physiotherapy combining the increased exhalation technique (IET) and assisted cough (AC). Our objective was to evaluate the efficacy of chest physiotherapy (IET + AC) in previously healthy infants hospitalized for a first episode of acute bronchiolitis. Methods and Findings We conducted a multicenter, randomized, outcome assessor-blind and parent-blind trial in seven French pediatric departments. We recruited 496 infants hospitalized for first-episode acute bronchiolitis between October 2004 and January 2008. Patients were randomly allocated to receive from physiotherapists three times a day, either IET + AC (intervention group, n = 246) or nasal suction (NS, control group, n = 250). Only physiotherapists were aware of the allocation group of the infant. The primary outcome was time to recovery, defined as 8 hours without oxygen supplementation associated with minimal or no chest recession, and ingesting more than two-thirds of daily food requirements. Secondary outcomes were intensive care unit admissions, artificial ventilation, antibiotic treatment, description of side effects during procedures, and parental perception of comfort. Statistical analysis was performed on an intent-to-treat basis. Median time to recovery was 2.31 days, (95% confidence interval [CI] 1.97–2.73) for the control group and 2.02 days (95% CI 1.96–2.34) for the intervention group, indicating no significant effect of physiotherapy (hazard ratio [HR] = 1.09, 95% CI 0.91–1.31, p = 0.33). No treatment by age interaction was found (p = 0.97). Frequency of vomiting and transient respiratory destabilization was higher in the IET + AC group during the procedure (relative risk [RR] = 10.2, 95% CI 1.3–78.8, p = 0.005 and RR = 5.4, 95% CI 1.6–18.4, p = 0.002, respectively). No difference between groups in bradycardia with or without desaturation (RR = 1.0, 95% CI 0.2–5.0, p = 1.00 and RR = 3.6, 95% CI 0.7–16.9, p = 0.10, respectively) was found during the procedure. Parents reported that the procedure was more arduous in the group treated with IET (mean difference = 0.88, 95% CI 0.33–1.44, p = 0.002), whereas there was no difference regarding the assessment of the child's comfort between both groups (mean difference = −0.07, 95% CI −0.53 to 0.38, p = 0.40). No evidence of differences between groups in intensive care admission (RR = 0.7, 95% CI 0.3–1.8, p = 0.62), ventilatory support (RR = 2.5, 95% CI 0.5–13.0, p = 0.29), and antibiotic treatment (RR = 1.0, 95% CI 0.7–1.3, p = 1.00) was observed. Conclusions IET + AC had no significant effect on time to recovery in this group of hospitalized infants with bronchiolitis. Additional studies are required to explore the effect of chest physiotherapy on ambulatory populations and for infants without a history of atopy. Trial registration ClinicalTrials.gov NCT00125450 Please see later in the article for the Editors' Summary, Editors' Summary Background Bronchiolitis, which is usually caused by the respiratory syncytial virus (RSV), is the commonest infection of the lower respiratory tract (the lungs and the passages through which air enters the lungs) in infants. A third of all children have bronchiolitis during their first year of life. The illness begins with stuffiness, a runny nose, a mild cough, and mild fever. Then, as the smallest airways in the lung (the bronchioles) become inflamed (swell) and blocked with mucus, the cough worsens, and the infant may develop a wheeze, shallow breathing, and a rapid heartbeat. Most cases of bronchiolitis are mild and clear up within two weeks without any treatment but some infants develop severe disease. Such infants struggle to get enough air into their lungs, drawing in their chest with each breath (chest recession). They have trouble eating and drinking, and the oxygen level in their blood can drop dangerously low. About 1% of previously healthy infants need hospitalization because of severe bronchiolitis. These severely affected infants are not normally given any medications but, where necessary, they are given oxygen therapy, fed through a tube into their stomach, and given fluids through a vein. Why Was This Study Done? In some countries, chest physiotherapy is routinely given to infants with bronchiolitis even though this is not a recommended treatment internationally. In France, for example, virtually all outpatients with bronchiolitis receive a form of chest physiotherapy known as increased exhalation technique with assisted cough (IET + AC). IET—manual chest compression—is designed to clear mucus from the bronchioles whereas AC—coughing triggered by applying pressure to the top of the breastbone—facilitates clearance of the large airways. But is IET + AC an effective treatment for bronchiolitis? In this study, the researchers undertook a multicenter, randomized, controlled trial to answer this question. A randomized trial is a study in which patients are randomly allocated to receive either the treatment under study or a control treatment. Usually in such trials, noone is aware of the treatment allocations until the trial has been completed. This is called blinding and avoids unconscious biases being introduced into the results. In this trial, although the parents, caregivers, and outcome assessors were blinded, the physiotherapists and the infants were aware of treatment allocations. The physiotherapists were not involved in patient assessment, however, and the infants were sufficiently young that their knowledge of their treatment was unlikely to bias the results. What Did the Researchers Do and Find? The researchers enrolled nearly 500 children aged 15 days to 2 years who were admitted to seven French hospitals for a first episode of acute bronchiolitis. They randomly allocated the patients to receive IET + AC (intervention group) or nasal suction (control group) three times a day from a physiotherapist working alone in a room with blacked-out windows. The primary outcome of the trial was the patients' time to recovery. Infants were judged to have recovered if they had not had oxygen therapy or showed signs of chest recession for 8 hours and had ingested more than two-thirds of their daily food requirement. Infants in the control group took an average of 2.31 days to recover whereas those in the intervention group took 2.02 days. However, this difference in recovery time was not statistically significant. That is, it could have happened by chance. The researchers also recorded several secondary outcomes such as admission to an intensive care unit, help with breathing, antibiotic treatment, and parental perceptions of their child's comfort. There were no significant differences between the two treatment groups for any of these secondary outcomes, although the parents did report that the IET + AC treatment was harder on their children than nasal suction while not reducing their overall comfort. What Do These Findings Mean? These findings show that IET + AC had no significant effect on the time to recovery of a large population of French infants admitted to hospital with severe bronchiolitis. These results cannot be extrapolated, however, to infants with mild or moderate bronchiolitis, and further studies are needed to assess whether chest physiotherapy is of any benefit in an outpatient setting. Three small trials of a different form of chest physiotherapy have also previously failed to find any effect of chest physiotherapy on recovery time. Thus, none of the currently available results support the routine use of chest physiotherapy in infants admitted to a hospital for severe bronchiolitis. Additional Information Please access these Web sites via the online version of this summary at http://dx.doi.org/10.1371/journal.pmed.1000345 The UK National Health Service Choices Web site provides detailed information on all aspects of bronchiolitis Kidshealth, a resource maintained by the Nemours Foundation (a not-for-profit organization for children's health) provides information for parents on bronchiolitis schizophrenia and on respiratory syncytial virus (in English and Spanish) The British Lung Foundation also provides information on bronchiolitis schizophrenia and on respiratory syncytial virus The MedlinePlus encyclopedia has a page on bronchiolitis schizophrenia (in English and Spanish) The US Centers for Disease Control and Prevention has detailed information on respiratory syncytial virus

Crigler–Najjar syndrome type I (CN-I) is a rare and severe metabolic disorder. A recurrent mutation – c.1070A>G in exon 3 – was identified in the Tunisian population, suggesting a founder effect. In 2004, the detection of this mutation in two Kuwaiti Bedouin families has called the Tunisian founder effect in question again. To determine the origin of this mutation, 21 Tunisian and 2 Kuwaiti Bedouin CN-I patients were screened using nine genetic markers. Haplotype analysis confirmed the founder effect hypothesis and dated the appearance of this mutation some 32 generations ago in the Tunisian population. Using the same genetic analysis, the ancestor haplotype was identified in these two families. This result genetically confirms the blending of the Bedouin nomads within today's Tunisian population. After population migration from east to west, this mutation was introduced into the Tunisian population, and then perpetuated, probably because of marriages in isolated communities.

Hepatic glycogen storage diseases are rare inherited conditions affecting glycogen metabolism. During the last twenty years, medical progress has allowed children who used to die before they reached the age of ten years to reach adulthood. It is important to know the natural history and long-term outcome of these patients to improve their treatment during childhood. To reach this goal, collaboration between pediatric specialists and those who treat adults is essential.

An adolescent was hospitalized for recurring abdominal pains, which had previously led to appendicectomy. Laboratory data finally led to the diagnosis of hereditary angioneurotic oedema, after several hypotheses had been raised and ruled out.Angioneurotic oedema is a rare condition, which should be suspected in children with recurring abdominal pains, especially when there is liquid within the peritoneal cavity.

To identify predictive factors of the presence of a serious bacterial infection (SBI) in febrile infants less than three months old.Retrospective analysis of the medical files of 315 consecutive consultations of febrile infants less than three months old in the pediatric emergency department of a French hospital, with logistic regression multivariate analysis of the different criteria routinely considered and C-reactive protein (CRP).SBI were diagnosed in 79 (25.1%) infants, primarily urinary tract infections (71; 22.5%). One of these 79 children had pneumococcal meningitis but met the classical criteria for low risk of SBI: he died because antibiotics were not prescribed sufficiently early. Factors significantly associated with SBI were: male sex; temperature38.5 degrees C and lasting24 hours; poor general condition; absence of ear, nose and throat symptoms; high white blood cell count with50% neutrophils; and serum CRP concentration20 mg/l. Multivariate analysis entering all these items retained only the latter two (respectively, OR: 13.5, 95% CI: [6.5-28.2] and OR: 2.9; 95% CI: [1.3-6.3]). CRP20 mg/l and50% neutrophils had a negative-predictive value of 93.1% for the absence of SBI.At present, no factor(s) is(are) able to predict with 100% accuracy the absence of SBI in febrile infants less than three months old. The risk of severe sequelae or death caused by untreated SBI would seem to justify the prescription of antibiotics until microbacterial culture results become available.

Introduction La glycogenose de type III ou maladie de Forbes, est une maladie hereditaire rare du metabolisme du glycogene, entrainant un deficit en enzyme debranchante du glycogene, caracterise par une myopathie et une hepatopathie severe. L’objectif de ce travail est d’evaluer la glycogenose a l’âge adulte. Patients et methodes Il s’agit de deux patients, frere et soeur, issus d’un mariage non consanguin, âges respectivement de 40 et 38 ans. Un bilan hepatique et metabolique, un fond d’oeil, une echocardiographie, un EMG et une echographie abdominale ont ete pratiques pour chaque malade. Observations Le diagnostic de la glycogenose a ete pose durant la petite enfance dans un tableau clinique d’hypoglycemie a repetitions avec convulsions, un retard staturo-ponderal et une hepatomegalie. Il a ete confirme par une biopsie hepatique sur le garcon uniquement. L’evolution est marquee par la regression des hypoglycemies et de l’hepatomegalie grâce a une dietetique adaptee. Cependant on note l’aggravation de la faiblesse musculaire recente sans atteinte cardiaque dans les deux cas. La survenue d’un diabete sucre a ete observee ces deux dernieres annees pour les deux patients. La femme est mise sous insulinotherapie en raison d’hyperglycemies majeures. Un bilan ophtalmologique a permis de detecter chez elle egalement une retinopathie debutante. L’homme est sous regles hygienodietetiques uniquement. Discussion on note la regression des symptomes de la petite enfance et l’aggravation de la myopathie en particulier pour l’homme. La survenue d’un diabete sucre est, selon la litterature, une complication rare. Il s’agit d’une maladie genetique rare et dont le pronostic est reserve en raison des complications, notamment la myopathie.