Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18q deletion syndrome.
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.
László
Aranka
A
Department of Pediatrics and Children's Health Center, Albert Szent-Györgyi Medical Centre, University of Szeged, Szeged, Hungary. laszloar@pedia.szote.u-szeged.hu
Vörös
Erika
E
Buga
Klára
K
Horváth
Katalin
K
Mayer
Péter
P
Osztovics
Magda
M
Pávics
László
L
Svekus
András
A
Patterson
Marc C
MC
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
D012701:Serotonin