Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver

@article{Scotto1982InfantilePA,
  title={Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver},
  author={Dr J. M. Scotto and Michelle Hadchouel and Michel Odi{\'e}vre and M. -H. Laudat and J-M. Saudubray and Olivier Dulac and Isabel Beucler and Philippe H. Beaune},
  journal={Journal of Inherited Metabolic Disease},
  year={1982},
  volume={5},
  pages={83-90}
}
Three cases of phytanic acid storage disease with symptoms during the first months of life are reported. Hepatomegaly, facial dysmorphia, growth and/or mental retardation and osteopenia were observed in addition to retinitis pigmentosa and neurosensory deafness. The presence of phytanic acid in serum (160–320 µmol/1 (50–100 µg/ml)) was accompanied by hypocholesterolaemia. Electron microscopy showed that a storage material had accumulated in mesenchymal and parenchymal liver cells. Lamellar… CONTINUE READING