A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease

I cell disease (Mucolipidosis II) is a rare autosomal recessive lysosomal storage disease characterised by severe skeletal abnormalities, intrauterine growth retardation, coarse facial appearance, progressive psychomotor retardation, thickening of the skin, gingival hyperplasia, hernias and early death. It is caused by a deficiency of N-acetylglucosamine 1-phosphotransferase which is normally found in the endoplasmic reticulum or Golgi apparatus. Since the clinical, biochemical and laboratory findings of the disease mimic rickets, the diagnosis may be difficult at the beginning