Genetic studies of hepatomegaly with fatty liver change in Egyptian children

ABSTRACT

The present work included 18 cases with liver diseases suspected to have genetic etiology. These were detected out of 33 cases with hepatomegaly and significant fatty liver change. For each case, complete clinical and genetic evaluation, specific investigations, and liver biopsy for histopathological studies were done. The following results were obtained 8 cases had Gaucher disease, 8 cases had glycogen storage disease and 2 cases had Niemann-Pick disease. Positive consanguinity was found in 89% of the studied cases and positive family history was present in 55% of the studied cases. Genetic etiology is responsible for 54.5% of cases with fatty liver change. Autosomal recessive inheritance was suggested in all genetically determined cases. It is concluded that the morphological picture combined with clinical examination and pedigree studies may be sufficiently distinctive to indicate the etiological diagnosis