Abstract
I-cell disease (Mucolipidosis II) is one of the lysosomal storage diseases which presents in the neonatal period, and within six months will phenotypically resemble the severe forms of the group of disorders called the “mucopolysaccharidoses” but without mucopolysacchariduria. In Mucolipidosis II, fibrocytes exhibit “abnormal lysosomes”. Activities of several lysosomal enzymes are low in fibroblast cultures but high in mucolipidosis II serum. We present a patient with I-cell disease diagnosed on the basis of clinical, radiological and biochemical features. The mother of this child was pregnant and the fetus was also found to be affected.
This is a preview of subscription content, log in via an institution to check access.
References
Reitmann ML, Varki A, Kornfeld S. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5′-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminyl-phosphotransferase activity.J Clin Invest 1981; 67:1574–1579.
Tondeur M, Vamos-Hurwitz E, Mockel-Pohl S, Dereunie JP, Cremers N, Loeb J. Clinical, biochemical and structural studies in a case of chondrodystrophy presenting the I-cell phenotype in culture.J Pediatr 1971; 79:366–378.
Leroy JG, Demars RI. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.Science 1967;157:804–806.
Beck M, Barone R, Hoffmann Ret al. Inter-and intra-familial variability in mucolipidosis II (I-cell disease).Clin Genet 1995;47:191–199.
Blank E, Linder D. I-cell disease (mucolipidosis II): A lysosomopathy.Pediatrics 1974;54:797–805.
Hug G, Bove KE, Soukup Set al. Increased serum hexosaminidase in a women pregnant with a fetus affected by mucolipidosis II (I-cell disease).NEJM 1984; 311(15):988–989.
Buist NRM. Set of simple sideroom urine tests for detection of inborn errors of metabolism.Br Med J 1968; 2:745.
Kleijer WJ, Hoogeveen A, Verheyen FWet al. Prenatal diagnosis of sialidosis with combined neuraminidase and β-galactosidase deficiency.Clin Genet 1979; 16:60–61.
Gilbert EF, Dawson G, Zu Rhein GMet al. I-cell disease, mucolipidosis II. Histochemical, ultrastructural and biochemical observations in four cases.Z Kinderheilkd 1973;114:259–292.
Ben-Yoseph Y, Mitchell DA, Yager RM, Wei JT, Chen TH, Shih LY. Mucolipidosis II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity towards alpha-methylmannoside are due to nonallelic mutations.Am J Hum Genet 1992;50:137–144.
Okada S, Owada M, Sakiyamia T, Yutaka T, Ogawa M. I-cell disease: Clinical studies of 21 Japanese cases.Clin Genet 1985;28:207–215.
Terashima Y, Tsuda K, Isomura S, Suguira Y, Nogami H. I-cell disease. Report of three cases.Am J Dis Child 1975;129:1083–1090.
Yamada H, Ohya M, Higeta T, Kinoshita S. Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II).Child’s Nerv Syst 1987;3:55–57.
Lemaitre L, Remy J, Farriaux JP, Dhondt JL, Walbaum R. Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases.Pediatr Radiol 1978; 7:97–105.
Babcock DS, Bove KE, Hug G, Dignan PSJ, Soukup S, Warren NS. Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation.Pediatr Radiol 1986;19:32–39.
Gordon N. I-cell disease-mucolipidosis II.Post Grad Med J 1973;49:359–361.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kabra, M., Gulati, S., Kaur, M. et al. I-cell disease (Mucolipidosis II). Indian J Pediatr 67, 683–687 (2000). https://doi.org/10.1007/BF02762185
Issue Date:
DOI: https://doi.org/10.1007/BF02762185