Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18Q deletion syndrome

Aranka László, Erika Vörös, Klára Buga, Katalin Horváth, Péter Mayer, Magda Osztovics, Lászlo Pávics, András Svekus, Marc C. Patterson

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

We previously reported a male patient with an 18q21.3 deletion, hyperuricemia and typical symptoms of the Lesch-Nyhan syndrome who lacked hypoxanthine-guanine-phosphoribosyl-transferase (HGPRT) deficiency. The patient developed progressive peripheral neuropathy in additon to his profound mental retardation and self-injurious behavior. At the age of 23 years MR imaging revealed globally delayed myelination with relative sparing of the corpus callosum and frontal lobes. They were focal hyperintensities suggestive of gliosis. Multimodality evoked potentials found evidence of impaired central and peripheral conduction. Single photon emission computed tomographic (SPECT) imaging demonstrated left frontal hyperperfusion and under it a temporoparietal hypoperfusion.

Original languageEnglish (US)
Pages (from-to)413-417
Number of pages5
JournalIdeggyogyaszati Szemle
Volume62
Issue number11-12
StatePublished - Nov 30 2009

Keywords

  • Deletion of 18q
  • MRI
  • Myelination disturbance
  • SEP
  • SPECT

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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