I‐cell disease: clinical studies of 21 Japanese cases

Abstract

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.

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

“…On the other hand, p.F374L is considered to contribute to relatively mild clinical manifestations, except for case 6, which was reported in detail by Kojima et al 14 and also by Okada et al 15 (case 9 in the article). He could stand alone but could not walk and was classified into ML II.…”

“…It is difficult to predict the clinical phenotype from only enzymatic or biochemical characteristics. 15 From a clinical standpoint, early prediction of prognosis is necessary. We could clearly classify the former ML types from selected clinical manifestations and these ML types correlated with genotypes.…”

Outcomes after Hematopoietic Stem Cell Transplantation for Children with I-Cell Disease

“…Because MLII is rare, its natural history is documented mainly as case reports or small case series. These reports suggest that most patients do not survive past the first decade and die from cardio-respiratory complications 3,20 . Although our data show that there are two patients post-transplant over the age of 10 (patients 6 and 9), patient 9 (who has the longest follow-up) was later determined to have an intermediate form of MLII/MLIII on review of her mutation.…”

Mucolipidosis type II in a low birth weight preterm infant. A case report

“…She had coarse facial features, inguinal hernia, hypotonia and secundum atrial septal defect as well. Cardiac manifestations reported in the published reports include cardiomyopathy, right and generalized ventricular hypertrophy, valvular thickening and mitral valve regurgitation were the most frequent findings (9) . In patients with mucolipidosis type II ocular findings such as corneal clouding, retinopathy and astigmatism may be seen, but our patient's ophtalmological examination was normal.…”