Adult type beta-galactosidase and neuraminidase deficiency in three siblings.

@article{Satoh1984AdultTB,
  title={Adult type beta-galactosidase and neuraminidase deficiency in three siblings.},
  author={Akira Satoh and Mitsuhiro Tsujihata and T Yoshimtra and Masahiro Mori and Shigenobu Nagataki},
  journal={Japanese journal of medicine},
  year={1984},
  volume={23 1},
  pages={58-61}
}
In recent years, there have been described a number of patients with beta-galactosidase and neuraminidase deficiency of juvenile onset. The clinical features in these patients are myoclonus, cherry-red spots, insidious visual loss, corneal clouding, gargoyle like appearance and ataxia. The condition appears to be transmitted as an autosomal recessive trait. Pathologically it has been characterized that there are vacuolation of lymphocytes, and inclusion bodies such as concentric membranous… CONTINUE READING