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I‐cell disease: clinical studies of 21 Japanese cases
Author(s) -
Okada Shintaro,
Owada Misao,
Sakiyama Takeshi,
Yutaka Tohru,
Ogawa Minoru
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb00388.x
Subject(s) - disease , hypertrophic cardiomyopathy , medicine , short stature , mental development , pediatrics , sudden death , cardiomyopathy , heart disease , nervous system , epilepsy , psychology , psychiatry , heart failure , developmental psychology
Clinical pictures of 21 cases with I‐cell disease patients, 12 males and 9 females, were analyzed. Characteristic coarse facial features and shortness of stature were observed in all cases. In general, the motor development was found to be more severely retarded than the mental development of the patients. Rather little involvement of the nervous system seemed to cause somewhat acceptable mental development in some cases, and also cause the absence of epileptic seizures in all cases. Involvement of the cardiovascular system, especially progressive hypertrophic cardiomyopathy, could be highly responsible for frequent sudden death of I‐cell disease patients.