ABSTRACT
The authors describe one case of Moebius syndrome in a neonate; the syndrome is uncommon. It includes congenital oculofacial palsy and limb malformations; other cranial nerves are sometimes involved. The etiology is unknown: genetic or embryopathic (infection or toxic). Pathogeny is unclear: nervous or muscular aplasia; neurocristopathy or dysgenesis of the two first branchial arches. The treatment is medical and chirurgical.
Subject(s)
Facial Paralysis/congenital , Limb Deformities, Congenital , Ophthalmoplegia/congenital , Humans , Infant, Newborn , Male , SyndromeABSTRACT
We report a case of mononuclear phagocyte system activation observed in a 12 month-old girl presenting with fever, hepatosplenomegaly, pancytopenia, histiocytic hyperplasia with hemophagocytosis in the bone marrow, high triglyceride and low fibrinogen blood levels. This syndrome was associated with visceral leishmaniasis. We conclude that systemic leishmaniasis is a curable cause of disorders characterized by an activation of the mononuclear phagocyte system.
Subject(s)
Leishmaniasis, Visceral/complications , Macrophage Activation , Phagocytes , Animals , Female , Humans , Infant , Leishmania donovani , Leishmaniasis, Visceral/blood , SyndromeABSTRACT
Diabetes mellitus uncommon in the newborn infant. There are two entities: a transient form and a permanent one. Differenciation is difficult. Transient diabetes, apparently the more common of the two, results in complete recovery. Permanent diabetes requires continued insulin therapy. The clinical presentations of these patients in the first days to weeks of life are similar in that the infants are small for gestational age, hyperglycemic, dehydrated and only rarely have ketonemia or ketonuria. However, the aetiology of the syndrome is unknown. The authors report two cases of permanent diabetes mellitus identified in the first two months of life, and still treated at thirty months of life.
Subject(s)
Diabetes Mellitus/congenital , Diabetes Complications , Diabetes Mellitus/diagnosis , Diabetes Mellitus/drug therapy , Female , Humans , Infant, Newborn , Insulin/therapeutic useSubject(s)
Child Health Services , Infant, Premature/psychology , Humans , Infant, Newborn , Psychology, ChildABSTRACT
Pharmacokinetic studies of amikacin were investigated concomitant with the kidney and auditory function and with the minimal inhibitory concentrations on the causal bacteria in 23 premature neonates with confirmed or suspected infections. It appears that the usual doses administered to newborns or preterm neonates must be decreased and calculated in function to the gestational ages and life's days. Every preterm neonates received a first infusion of 7.5 mg/kg. When premature have less than 14 days of life, amikacin was given at a dose of 3.75 mg/kg every 12 hr for a gestational age less than 32 weeks, or 5 mg/kg every 12 hr for a gestational age between 32 and 37 weeks. After 14 days of life, considering our results it must be necessary to administer 5 or 7.5 mg/kg every 12 hr.
Subject(s)
Amikacin/administration & dosage , Infant, Premature, Diseases/drug therapy , Amikacin/blood , Bacterial Infections/blood , Bacterial Infections/drug therapy , Bacterial Infections/microbiology , Drug Administration Schedule , Humans , Infant, Newborn , Infant, Premature, Diseases/blood , KineticsABSTRACT
Based on a review of the literature, the authors present the indications for Primperan in paediatrics. The anti-emetic and motor properties of Primperan can be useful in the treatment of gastro-intestinal disorders in infants and children, gastro-duodenal dyskinesia and gastro-oesophageal reflux, but it is also useful for the radiological or endoscopic diagnosis of these conditions and in anaesthetics.
Subject(s)
Gastrointestinal Diseases/drug therapy , Metoclopramide/therapeutic use , Anesthesia , Child, Preschool , Digestive System/diagnostic imaging , Gastric Emptying/drug effects , Gastroesophageal Reflux/drug therapy , Gastroscopy , Humans , Infant , Metoclopramide/pharmacology , Pneumonia, Aspiration/prevention & control , RadiographyABSTRACT
Three new cases of partial trisomy of the chromosome 8 short arm are reported. The observations confirm and extend certain clinical, enzyme, and chromosomal data in this type of chromosomal anomaly.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, 6-12 and X , Glutathione Reductase/genetics , Trisomy , Chromosome Banding , Chromosome Mapping , Female , Humans , Infant, Newborn , Male , Phenotype , SyndromeABSTRACT
An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.
