[A novel mutation in @entity73030 gene in XXXX : a case report].

@entity1 @entity154 @entity1952 @entity851 @entity73029 @entity20724 @entity10579 @entity246 @entity64749 @entity730 @entity73030 @entity2421 @entity302 @entity62 @entity1718 @entity204 @entity386
BACKGROUND: @entity10579 is the most severe phenotype of the peroxisome biogenesis disorders caused by mutations in PEX genes. @entity73029 genes are most frequently implicated. Clinical phenotype can't predict the mutated gene. AIM: To report a novel mutation in the @entity73030 gene in @entity1 with typical @entity10579 . CASE REPORT: the @entity1 was the second @entity1 to consanguineous parents; the 1st @entity1 was dead with @entity2421 . At two month of age, we noted a severe @entity2421 and @entity851 , characteristic facial @entity154 and @entity246 . Sensorial investigations showed @entity1952 . Cerebral tomography revealed @entity62 . Radiological examination revealed @entity730 stippling of the patellas. The clinical diagnosis was supported by measurement of plasma very-long-chain @entity1718 , with elevated C24:0/C22:0, C26:0/C22:0 ratios and decreased @entity64749 peak. The diagnosis was confirmed by dosage of @entity20724 activity in fibroblasts which was very low. Ultrastructural examinations showed the presence of peroxisomal ghosts. Genetic analysis demonstrated a new mutation in @entity73030 gene.The @entity204 occurred at the age of 8 months of refractor @entity302 and @entity386 . CONCLUSION: The poor prognosis of @entity10579 incites paediatricians to consider this disorder in etiological investigations of precocious @entity2421 . Biochemical diagnosis, available in Tunisia, offers opportunity of prenatal diagnosis in affected families.
