著明な後わん変形を呈したムコ多糖症に対する観血的治療例の経験

Abstract

Mucopolysaccharidosis is often associated with spinal deformities such as kyphosis, atlanto-axial instability. The kyphosis responds well to treatment with Milwaukee brace in infant, but may require surgical treatment if it is severe and progressive.We have experienced a case of mucopolysaccharidosis with severe kyphotic deformity who underwent surgical treatment successfully. The patient was a seventeen years old male complaining of kyphosis and gait disturbance. Physical examination revealed short statue, flexion contracture of both elbow, hip and knee joints, mental retardation, heat murmur and hepatomegaly, but no gargoyle face, corneal clouding. No neurological abnormality was seen except for hyperreflexia of the bilateral lower limbs. Roentgenograms of the spine showed os odontoideum and thoraco-lumbar kyphosis measured 65 degrees from the eleventh thoracic to the third lumbar vertebrae. In biochemical findings, the excessive urinary excretion of mucopolysaccharides was seen, but the inactivity of any enzyme was not significant.The patient, treated by two-stage operation with anterior and posterior procedures, had initial improvement in the kyphosis from 65 to 8 degrees.