[Mucolipidosis II or I-cell disease in the neonatal period].
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.
D000015:Abnormalities, Multiple / Q000378:metabolism*; D000361:Agammaglobulinemia / Q000151:congenital; D001851:Bone Diseases, Metabolic / Q000151:congenital; D005347:Fibroblasts / Q000201:enzymology; D006026:Glycoside Hydrolases / Q000172:deficiency; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology
D006026:Glycoside Hydrolases
Mucolipidosis II o "I cell disease" en el período neonatal.