Successful plasmapheresis for acute and severe unconjugated hyperbilirubinemia in a child with crigler najjar type I syndrome.

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.

Glucose-6-phosphatase deficiency.

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.

Perioperative management of hemostasis for surgery of benign hepatic adenomas in patients with glycogen storage disease type ia.

The development of hepatocellular adenomas in the liver of patients with glycogen storage disease type I is a well-known complication of the disease. Surgical procedures and perioperative managements described so far have reported persistent and important morbidity. We report here a series of six patients (three males and three females) who underwent hepatic resection, and we propose a new hemostatic management protocol comprising glucose infusion, corticosteroids, desmopressin, and antifibrinolytic drugs, used to prevent efficaciously hepatic hemorrhage due to glycogen storage disease (GSD) platelet dysfunction.

Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib.

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.

Effectiveness of chest physiotherapy in infants hospitalized with acute bronchiolitis: a multicenter, randomized, controlled trial.

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.

[Natural history of hepatic glycogen storage diseases].

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.

The Tunisian population history through the Crigler-Najjar type I syndrome.

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.

Recurring acute abdominal pains in an adolescent as the presenting manifestations of hereditary angioneurotic oedema.

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.