[Hurler syndrome: early diagnosis and treatment].
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.
Service de néonatologie, hôpital Mère-Enfant, CHU de Nantes, , 38, boulevard Jean-Monnet, 44000 Nantes, France.
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S
Leroux
Service de néonatologie, hôpital Mère-Enfant, CHU de Nantes, , 38, boulevard Jean-Monnet, 44000 Nantes, France. Electronic address: jeanbaptiste.muller@chu-nantes.fr.
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JB
Muller
Service de néonatologie, hôpital Mère-Enfant, CHU de Nantes, , 38, boulevard Jean-Monnet, 44000 Nantes, France.
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E
Boutaric
Service de néonatologie, hôpital Mère-Enfant, CHU de Nantes, , 38, boulevard Jean-Monnet, 44000 Nantes, France.
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A
Busnel
Service de néonatologie, hôpital Mère-Enfant, CHU de Nantes, , 38, boulevard Jean-Monnet, 44000 Nantes, France.
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F
Lemouel
Service de néonatologie, hôpital Mère-Enfant, CHU de Nantes, , 38, boulevard Jean-Monnet, 44000 Nantes, France.
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M
Andro-Garçon
Service d'immunologie-hématologie pédiatrique, hôpital Necker, 75015 Paris, France.
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B
Neven
Service des maladies héréditaires du métabolisme, hôpital Necker, 75015 Paris, France.
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V
Valayannopoulos
Service de néonatologie, hôpital Mère-Enfant, CHU de Nantes, , 38, boulevard Jean-Monnet, 44000 Nantes, France.
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C
Vinceslas
D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D042241:Early Diagnosis; D061345:Early Medical Intervention; D056947:Enzyme Replacement Therapy; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007068:Iduronidase / Q000235:genetics / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*
D007068:Iduronidase