Infanto-Juvenile Encephaloneuropathy and Pigmentary Retinopathy in a Girl Associated with Congenital Adrenal Insufficiency and Altered Plasma Medium-Chain Fatty Acid Levels

  • A. Federico
  • G. Baracchini
  • M. T. Dotti
  • L. Ibba
  • A. Malandrini
  • G. Ciacci
  • M. Meloni
  • S. Palmeri
  • A. Pompella
  • G. C. Guazzi

Abstract

The combination of adrenocortical insufficiency, pigmentary retinopathy, seizures, peripheral neuropathy and hepatomegaly was first reported by Dyck et al. (1981) in two male subjects and was associated with decreased hepatic arachidonic acid. In 1978, Allgrove et al. reported four cases, one of them female, from two different families, with adrenocortical deficiency, achalasia, decreased lachrymation and autonomic dysfunction.

Keywords

Phytanic Acid Allergic Conjunctivitis Serum Fatty Acid Superficial Peroneal Nerve Distal Motor Latency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Springer Science+Business Media Dordrecht 1988

Authors and Affiliations

  • A. Federico
    • 1
  • G. Baracchini
    • 4
  • M. T. Dotti
    • 1
  • L. Ibba
    • 2
  • A. Malandrini
    • 1
  • G. Ciacci
    • 1
  • M. Meloni
    • 1
  • S. Palmeri
    • 1
  • A. Pompella
    • 3
  • G. C. Guazzi
    • 1
  1. 1.Istituto di Scienze NeurologicheCentro per lo studio delle Encefalo-Neuro-Miopatie Genetiche della Università di SienaSienaItaly
  2. 2.Istituto di Istologia ed Embriologia GeneraleOspedale di PisaItaly
  3. 3.Istituto di Patologia GeneraleUniversità di SienaItaly
  4. 4.Divisione di Neuropsichiatria InfantileOspedale di PisaItaly

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