Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation.

Background/purpose: Recent biologic studies have revealed that enteric neuroglial deficiency causes gut functional deterioration. We studied the central and peripheral nervous systems in a SOX10 mutation-associated Hirschsprung's patient who presented persistent gut functional disorders even after definitive surgery.

Methods: DNA sequences of all coding regions of the SOX10 gene (22q13) were determined using the direct DyeDeoxy Terminator Cycle method, and brain magnetic resonance images, nerve conduction velocities, and histopathology of the enteric nervous system were investigated for neurologic assessment.