I-cell disease

report of a case.

S. H. Chang, S. J. Lin, Yu-Yun Lee, R. C. Yang, S. L. Yang

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

I-cell disease, or mucolipidosis type II (ML II), resembles Hurler syndrome but without the mucopolysacchariduria. I-cell disease is a slowly progressive disorder with onset at birth and fatal outcome in childhood. The neonate with I-cell disease usually has a low birth weight. Unlike Hurler syndrome, there is no temporary acceleration of skeletal growth around one year of age. Instead, clinical characteristics included coarse face and skin, skeletal abnormalities, gum hypertrophy, and severe psychomotor retardation. Head size is proportional to stature. Psychomotor retardation is extreme in some patients but rather mild in others. The most frequent causes of death are bronchopneumonia and congestive heart failure. We report a 9 month-old male infant with characteristic clinical features of I-cell disease. Cytoplasmic inclusions were observed in cultured skin fibroblasts. Ultrastructural study of normal looking skin revealed numerous cytoplasmic inclusions with pleomorphic contents in the fibroblasts and Schwann cells. The diagnosis was confirmed by lysosomal enzyme assay in serum and fibroblasts.

Original languageEnglish
Pages (from-to)295-300
Number of pages6
JournalThe Kaohsiung journal of medical sciences
Volume12
Issue number5
Publication statusPublished - 1996 Jan 1

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Mucolipidoses
Mucopolysaccharidosis I
Fibroblasts
Inclusion Bodies
Skin Abnormalities
Bronchopneumonia
Skin
Fatal Outcome
Schwann Cells
Enzyme Assays
Low Birth Weight Infant
Gingiva
Hypertrophy
Cause of Death
Heart Failure
Head
Parturition
Newborn Infant
Growth
Serum

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Chang, S. H., Lin, S. J., Lee, Y-Y., Yang, R. C., & Yang, S. L. (1996). I-cell disease: report of a case. The Kaohsiung journal of medical sciences, 12(5), 295-300.
Chang, S. H. ; Lin, S. J. ; Lee, Yu-Yun ; Yang, R. C. ; Yang, S. L. / I-cell disease : report of a case. In: The Kaohsiung journal of medical sciences. 1996 ; Vol. 12, No. 5. pp. 295-300.
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Chang, SH, Lin, SJ, Lee, Y-Y, Yang, RC & Yang, SL 1996, 'I-cell disease: report of a case.', The Kaohsiung journal of medical sciences, vol. 12, no. 5, pp. 295-300.

I-cell disease : report of a case. / Chang, S. H.; Lin, S. J.; Lee, Yu-Yun; Yang, R. C.; Yang, S. L.

In: The Kaohsiung journal of medical sciences, Vol. 12, No. 5, 01.01.1996, p. 295-300.

Research output: Contribution to journalArticle

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Chang SH, Lin SJ, Lee Y-Y, Yang RC, Yang SL. I-cell disease: report of a case. The Kaohsiung journal of medical sciences. 1996 Jan 1;12(5):295-300.