Cohen syndrome is a very
rare disease. Complication by spinal
deformity has been reported, but management and surgery for spinal
deformity in
Cohen syndrome has not been previously described. The objective of this study was to examine the outcome of surgical treatment for kyphoscoliosis of
Cohen syndrome with a literature review. The patient was a 14-year-old male with the characteristics of
Cohen syndrome: truncal
obesity,
mental retardation,
arachnodactyly, microcephalia, and a facial malformation.
Scoliosis was conservatively treated with a
brace at 13 years of age, but the spinal
deformity rapidly progressed within a year. Plain radiographs before surgery showed
scoliosis of 47 degrees (T5-T11) and 79 degrees (T11-L3), and
kyphosis of 86 degrees (T7-L1). One-stage anteroposterior corrective fusion of T4-L3 was scheduled after 2-week Halo
traction. Postoperative respiratory management was carefully performed because of
Cohen syndrome-associated facial malformation,
obesity, and reduced muscle tonus. Respiration was managed with intubation until the following day and no respiratory problems occurred. After surgery, thoracolumbar
scoliosis was 28 degrees (correction rate: 65%).
Kyphosis was markedly improved from 86 degrees to 20 degrees, achieving a favorable balance of the trunk. The outcome is favorable at 6.5 years after surgery. In conclusion,
Cohen syndrome is often complicated by spinal
deformity, particularly
kyphosis, that is likely to progress even in adulthood. In our patient, spinal
deformity progressed within a short period, even with
brace treatment. Surgery should be required before progression to the severe spinal
deformity with careful attention to
general anesthesia.