ABSTRACT
Hurler syndrome, the most severe form of mucopolysaccharidosis type I (MPS I), is a rare lysosomal storage disease. The overall incidence of MPS I is 0.99-1.99/100,000 live births. Accumulation of glycosaminoglycans causes the progressive dysfunction of multiple organs. We report the case of a 3-week-old newborn who was hospitalized in the Neonatal Intensive Care Unit for feeding problems. Coarse facial features and gingival hypertrophy, associated with axial hypotonia, upper airway obstruction, and moderate hepatomegaly, led to the early diagnosis of MPS I at 3 weeks of age and was confirmed by an abnormally elevated amount of dermatan and heparan sulphate in the urine and complete deficiency of alpha-L-iduronidase lysosomal enzyme activity. The child was homozygous for the p.W402X mutation, located on chromosome 4p16.3 of the alpha-L-iduronidase (IDUA) gene. The clinical condition gradually deteriorated until the age of 4 months, with thoracic and lumbar dysostoses, glaucoma, cerebral ventricular dilatation and cervical spinal stenosis, dilated cardiomyopathy, and umbilical hernia. Early diagnosis allowed enzyme replacement therapy (iaronidase, Aldurazyme(®), Genzyme) started at the age of 5 months, which provided stabilization of the heart disease, significant regression of rhinologic symptoms, and regression of hepatomegaly. Cord blood hematopoietic stem cell transplantation was performed at 11 months of age, allowing optimal preservation of cognitive development.
Subject(s)
Early Diagnosis , Early Medical Intervention , Mucopolysaccharidosis I/diagnosis , Mucopolysaccharidosis I/therapy , Chromosomes, Human, Pair 4/genetics , DNA Mutational Analysis , Disease Progression , Enzyme Replacement Therapy , Follow-Up Studies , Homozygote , Humans , Iduronidase/genetics , Iduronidase/therapeutic use , Infant , Infant, Newborn , Intensive Care Units, Neonatal , Male , Mucopolysaccharidosis I/geneticsABSTRACT
In our neonatal intensive care unit, the incidence density of infections related to central catheters, assessed retrospectively over 2 years, exceeded that described in the literature. To reduce this incidence density, clinical practice guidelines were implemented for the insertion and maintenance of central lines. The purpose of this study was to evaluate the impact of the protocol on the incidence density and the incidence rate of nosocomial bloodborne infections. This was a prospective study in a neonatal intensive care unit of the Fort-de-France University Hospital over 17 months, which included all premature infants with a central line. We studied the adherence to the protocol, possible complications related to the protocol, the characteristics of the population, the incidence rate, and the density of specific central catheter-related infections. There were 111 children, 122 catheters, and 2575 catheter days during period 1 and 101 children, 125 catheters, and 1631 catheter days during period 2. Gestational age and birth weight were significantly lower in period 2 (29.6±2.3 GW vs 27.3±1.9, P=0.001; 1239±379g vs 915±175g, P<0.001) and the catheterization duration differed between the 2 periods (20±11 days vs 13±6 days, P<0.0001). A trend for a lower incidence density of infection was observed in the second period (16 per 1000 catheter days vs 10 per 1000 catheter days, P=0.06). Although the 2 groups' baseline characteristics were different, this study suggests a positive impact of clinical practice guidelines for the insertion and maintenance of central venous catheters on the incidence of nosocomial infections related to central catheters.