Clinical Neuroscience

[Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18q deletion syndrome]

LÁSZLÓ Aranka1, VÖRÖS Erika2, BUGA Klára3, HORVÁTH Katalin4, MAYER Péter5, OSZTOVICS Magda†6, PÁVICS László7, SVEKUS András8, PATTERSON C. Marc9

NOVEMBER 30, 2009

Clinical Neuroscience - 2009;62(11-12)

[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.]

AFFILIATIONS

  1. Department of Pediatrics and Children's Health Center, Albert Szent-Györgyi Medical Centre, University of Szeged, Szeged
  2. Department of Radiology, Albert Szent-Györgyi Medical Centre, University of Szeged, Szeged
  3. Clinic of Nuclear Medicine, Imre Haynal Health Science University, Budapest
  4. Department of Radiology, Imre Haynal Health Science University, Budapest
  5. Department of Neurology Erzsébet Hospital, Hódmezôvásárhely
  6. Department of Genetics, Ágost-Schöpf-Merei Hospital, Budapest
  7. Department of Nuclear Medicine, Albert Szent-Györgyi Medical Centre, University of Szeged, Szeged
  8. Kálmán Pándy Hospital, Department of Paediatrics, Gyula
  9. Division of Pediatric Neurology, Departments of Neurology and Pediatrics, Columbia University, New York

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