گزارش 1 مورد تأخیر تکامل به علت فوکوسیدوز همراه با میلومننگوسل

Fucosidosis is a rare hereditary metabolic disease that is resulted from a deficiency in α-fucosidase enzyme activity. This deficiency produces accumulation of fucose-containing glycosphingolipids, glycoproteins and oligosaccharides in lysosomes of liver, brain and other organs. Phenotypes of this disease are various. Most of the cases have severe form or infantile type that begins in the first year of life with psychomotor retardation, coarse facial features and macroglossia (similar to mucopolysaccharidoses), hepatosplenomegaly and skeletal disorders (dysostosis multiplex). In milder types, clinical signs begin in the second year of life. The first sign is angiokeratomas (similar to Fabry disease). After that, thick skin, puffy eyelids, spastic gait and positive Babinski appear gradually. The case of the present report was a 13-month-old girl who referred due to motor developmental delay. In physical examination, there were developmental delay, growth retardation(weight, height and head circumference<5 percentile of normal), coarse facies, macroglossia, puffy eyelids, skeletal deformities and myelomeningocele in thoracic region. Laboratory studies revealed a deficient enzymatic activity of fucosidase and no mucopolysacchariduria.