Conus medulla-cauda compression from nerve root hypertrophy in a child with Dejerine-Sottas syndrome: improvement with laminectomy and duraplasty. Case report.
This 7-year-old boy with Dejerine-Sottas syndrome caused by a mutation in the myelin protein zero gene began to suffer rapid deterioration with increasing leg weakness, loss of the ability to ambulate, and bowel and bladder incontinence. Magnetic resonance imaging of the spine revealed nerve root hypertrophy resulting in compression of the conus medullaris and cauda equina. Decompressive surgery was successful in reversing some of his deficits.
Kleopa
Kleopas A
KA
Division of Neurology, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
Sutton
Leslie N
LN
Ong
Joseph
J
Tennekoon
Gihan
G
Telfeian
Albert E
AE
D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D002648:Child; D003062:Codon; D019299:Decompression, Surgical; D005998:Glycine / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D006801:Humans; D006984:Hypertrophy; D007796:Laminectomy; D008279:Magnetic Resonance Imaging; D008297:Male; D018993:Myelin P0 Protein / Q000235:genetics; D009460:Neurologic Examination; D017354:Point Mutation; D011128:Polyradiculopathy / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D011183:Postoperative Complications / Q000175:diagnosis; D013117:Spinal Cord Compression / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D013126:Spinal Nerve Roots / Q000473:pathology*
D003062:Codon; D018993:Myelin P0 Protein; D001120:Arginine; D005998:Glycine