An unusual case of mannosidosis with severe deficiency of acid mannosidase in leukocytes and high residual enzymatic activity in skin fibroblasts

First‐trimester diagnosis of an unusual case of α‐mannosidosis

“…It should be noted that the situation in family P makes prenatal diagnosis of a-mannosidosis difficult. First, there was a high residual activity of acid amannosidase in cultured skin fibroblasts from patient P (it was 25 per cent of the normal control values) (Tsvetkova et al, 1980). Second, the enzyme activity in the mother's leukocytes was found to be only 25 per cent of the control value (Tsvetkova et al, 1980).…”

“…a-Mannosidosis was diagnosed in a 2;-year-old boy, 'P' (Tsvetkova et al, 1980). He hadl motor and mental retardation, coarse facies, a flat nasal bridge, and hepatosplenoimegaly.…”

“…Chorionic villi were obtained at 9-10 weeks of pregnancy in a healthy woman without hereditary disease in her family (and with her informed consent) and in mother P, whose first child was affected with a-mannosidosis (Tsvetkova et al, 1980). Chorionic villus biopsy was performed by the transcervical approach using a flexible forceps under ultrasound guidance.…”

Genetic Defects in Glycoprotein Metabolism

“…In some cases intermediate levels of a-mannosidase activity have been detected (13, 49,134,136). However, in most instances heterozygote activities fall within or near the low normal values (103,134,136,195,257). Residual mannosidase levels in affected individuals are usually about 3-5% of the normal control mean (49,103,134,136,195).…”

Communicating Hydrocephalus and Lysosomal Inclusions in Mannosidosis

“…Accepted for publication Sept 15,1983 There was no increase of connective tissue, and no inflammatory infiltrate was evident. In the first biopsy speci¬ men, two "ringbinden" were seen.…”