title: Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18q deletion syndrome.
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.
authors.affiliation: Department of Pediatrics and Children's Health Center, Albert Szent-Györgyi Medical Centre, University of Szeged, Szeged, Hungary. laszloar@pedia.szote.u-szeged.hu
authors.forename: Aranka
authors.initials: A
authors.lastname: László
authors.forename: Erika
authors.initials: E
authors.lastname: Vörös
authors.forename: Klára
authors.initials: K
authors.lastname: Buga
authors.forename: Katalin
authors.initials: K
authors.lastname: Horváth
authors.forename: Péter
authors.initials: P
authors.lastname: Mayer
authors.forename: Magda
authors.initials: M
authors.lastname: Osztovics
authors.forename: László
authors.initials: L
authors.lastname: Pávics
authors.forename: András
authors.initials: A
authors.lastname: Svekus
authors.forename: Marc C
authors.initials: MC
authors.lastname: Patterson
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000098:blood supply; D002887:Chromosomes, Human, Pair 18; D003711:Demyelinating Diseases / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D005071:Evoked Potentials; D017353:Gene Deletion; D006801:Humans; D033461:Hyperuricemia / Q000150:complications*; D008607:Intellectual Disability / Q000209:etiology; D007926:Lesch-Nyhan Syndrome / Q000150:complications / Q000175:diagnosis; D008297:Male; D016728:Self-Injurious Behavior / Q000209:etiology; D012701:Serotonin / Q000097:blood*; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D012701:Serotonin