Abstract
A newborn with the clinical, radiological and biochemical features of mucolipidosis II or "I cell disease" is presented. Some aspects of differential diagnosis in neonatal period and of the outcome are commented. The infant had also a single right kidney and agammaglobulinemia without further alteration of the humoral or cellular immunity at 10 months of age.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Abnormalities, Multiple / metabolism*
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Agammaglobulinemia / congenital
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Bone Diseases, Metabolic / congenital
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Fibroblasts / enzymology
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Glycoside Hydrolases / deficiency
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Humans
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Infant, Newborn
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Kidney / abnormalities
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Male
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Mucolipidoses / diagnosis*
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Mucolipidoses / enzymology
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Mucolipidoses / pathology