[Hurler syndrome: early diagnosis and treatment]. / Syndrome de Hurler : diagnostic et prise en charge précoces.

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.

Prognostic value of EEG in very premature newborns.

OBJECTIVE: To evaluate the prognostic value of EEG regarding the psychomotor outcomes of very premature newborns. METHODS: 76 premature infants <30 weeks gestation were enrolled between January 2001 and August 2004. They were examined at 4 and 9 months corrected ages, and at 18 months, 3-4 years and 5-6 years. EEGs performed in the neonatal period were analysed by two neurologists blind to the child's outcome. RESULTS: The mean follow-up was 5.6 years. 25 infants had normal neurological development and all EEGs were normal for 22 of these. 36 others had developmental disabilities (7 motor sequelae and 29 delayed psychomotor development). Of 187 EEGs, 43 were dysmature, 13 disorganised, 2 displayed electrical seizures without clinical manifestations and 15 showed other abnormal features. Dysmaturity was the predominant EEG pattern in newborns with severe or moderate sequelae and was persistent on several EEGs in 12 of these. In contrast, only three infants with normal development had a dysmature pattern on one EEG. All infants with a disorganised pattern had cognitive sequelae, and two had cerebral palsy. The sensitivity of EEG regarding psychomotor outcome was 83.3%, the specificity was 88% and the positive predictive value was 90.9%. CONCLUSIONS: Very preterm neonates remain at high risk of neurological sequelae and EEG is a sensitive method for assessing neuromotor and cognitive prognosis. A dysmature pattern was the predominant EEG characteristic in infants who developed severe or moderate impairment. Early postnatal tracing is useful but additional recordings are generally necessary to detect high-risk newborns.