High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba.

Although lysosomal storage disorders (LSDs) are considered individually rare, as a group they present a non-negligible frequency. Few studies have been made of populational occurrence of LSDs; they have been conducted predominantly on Caucasian populations. We studied the occurrence of LSDs in Cuba. Data from individuals who had been referred to the Institute of Neurology and Neurosurgery in Havana from hospitals all over the country between January 1990 and December 2005 were analyzed. This institute was the only laboratory to provide enzyme-based diagnostic testing for 19 LSDs in Cuba during this period. Occurrence rates were calculated by dividing the number of postnatal diagnoses by the number of births during the study period. The combined occurrence of LSDs in Cuba was 5.6 per 100,000, lower than that reported in other studies conducted on Caucasian populations. The most frequent individual LSDs were: mucopolysaccharidosis type I (1.01 per 100,000) and, surprisingly, alpha-mannosidosis (0.72 per 100,000) and fucosidosis (0.62 per 100,000). These findings may be related to specific genetic characteristics and admixture of the Cuban population. This is the first comprehensive study of the occurrence of LSDs in Cuba. We conclude that the epidemiology of these diseases can vary regionally, and we stress the need for similar surveys in other Latin American countries.

Alpha-mannosidosis: the first Turkish case.

We describe a 10 month old boy with alpha-mannosidosis who presented with recurrent bronchopneumonia and diarrhea. Facial coarsening, deafness, hepatosplenomegaly, umbilical hernia, pectus carinatum and widespread Mongolian spots were distinguishing features. He also had mild skeletal deformities grouped together as 'dysostosis multiplex', and vacuolated lymphocytes on peripheral blood smear. These findings coupled with an abnormal urinary oligosaccharide pattern led to the suspicion of a lysosomal storage disease in the patient which proved to be alpha-mannosidosis. An exceptionally low level of alpha-mannosidase activity was subsequently found in serum and cultured skin fibroblasts. The patient's brother, who had died at the age of 10 months, had similar features. To the best of our knowledge, this is the first case reported from Turkey.

Lysosomal storage diseases in Greece.

Over the last 13 years 2745 patients from all over Greece suspected to have a lysosomal storage disorder were referred to the Institute of Child Health. 1581 of those were suspected of having a mucopolysaccharidosis (MPS). 94 cases (3.42% of the total referrals) were positive: 36 patients with MPS, 6 with mucolipidosis (1 type I, 1 type II and 4 type III) and 3 with mannosidosis. Sanfilippo B was not only the most frequent type III MPS but also the most frequent MPS identified in our study. Sphingolipidoses and other lysosomal disorders were diagnosed in 47 cases and non-lysosomal disorders in 19 cases. In our experience Gaucher disease, Sanfilippo B and Hunter syndrome are the most frequent lysosomal disorders in Greece accounting for 23.4%, 17.0% and 7.6% respectively of all diagnosed cases. 13% of the patients originated from Thessaly including 5/16 Sanfilippo B, 2/3 Morquio B, 2/3 Maroteaux-Lamy, 2/6 Metachromatic leukodystrophy and 2/12 Gaucher type 1.