Prevalence of some lipidosis among Egyptian children with neurodegenerative disorders

ABSTRACT

The present work comprised 30 patients belonging to 27 families. The age of the studied patients ranged from 7 months to 10 years [mean 43.9 +/- 27.69 months]. The age of onset of the disease ranged from 7 months to 5 years [mean 17.26 +/- 13.3 months]. All patients suffered from developmental delay or progressive loss of previously acquired milestones, with no coarse facial features, organomegaly or ectodermal abnormality. For all patients the following was done - Full medical history, thorough clinical examination and family pedigree construction. - Fundus examination and nerve conduction velocity [NCV]. - MRI of brain and IQ assessment. - Measurement of arylsulphatase A, galactocerebroside beta-galactosidase activity in peripheral leucocyte was also done together with chitotriosidase level in plasma. Twenty two patients [73.33%] had normal fundus examination, and eight patients [26.66%] had various fundus findings [three patients [10%] had pale optic disc, and five patients [16.66%] had optic atrophy] - Twenty five patients [83.33%] had normal NCV, and five patients [16.66%] had demyelination. - All patients had +ve MRI findings, 19 patients [63.33%] had dysmyelination and 11 patients [36.33%] had brain atrophy. - Twenty six patients had normal value of Aryl sulphatase A activity [ASA] [51-200 micro mol/g- p/h], while three cases demonstrated decreased activity [one case had pseudodeficiency value [10-50 micro mol/g-p/h], and two cases had actual deficiency of enzyme activity [<10 micro mol/g -p/h] and diagnosed as metachromatic leukodystrophy]. - Twenty eight patients had normal value of Chitotriosidase activity [CT] [4-80 micro mol/l/h] and one patient had high value. - Galactocerebroside beta-galactosidase activity [GALC] was measured in leukocytes for 29 index cases. Normal value was detected in all cases [0.5-4 micro mol/g-p/h]. One case [3.33%] had Gaucher disease, another had aryl sulfatase A pseudodeficiency and a third case had most probably Pelizaeus Merzbach disease, two cases had infantile Metachromatic leukodystrophy [6.66%], while another two had congenital muscular dystrophy. All other patients need further follow up and further investigations