11/67. Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively. Myopathologically, these muscle tissues contained numerous inclusions which, at the ultrastructural level, turned out to be reducing bodies and cytoplasmic bodies, often in close spatial proximity. Similar histological inclusions, although not further identified by histochemistry and electron microscopy, were seen in his maternal grandmother's biopsied muscle tissue who had developed weakness of the legs and hands after the age of 50 years. The patient's parents were healthy, but the mother's quadriceps muscle showed an increased spectrum of muscle fibre diameters. Our patient, thus, had a neuromuscular disorder, perhaps familial, presenting as a mixed congenital myopathy, i.e., reducing body myopathy with cytoplasmic bodies, of which the morphological lesions could be consistently documented over several years in his different limb muscles. While other mixed congenital myopathies had shown cores and rods, both related to sarcomeres and thus possibly morphogenetically related, cytoplasmic bodies thought to be related to Z-bands and reducing bodies dissimilar to any muscle fibre constituent do not share any common denominator. Therefore, we suggest that this neuromuscular disorder may be a unique mixed congenital myopathy, either sporadic or genetic. In the latter case, the transmission pattern suggested X-linked recessive inheritance, but an autosomal-dominant transmission with variable penetrance could not be ruled out. ( info) |
12/67. Spinal lordosis with marked opisthotonus secondary to dystonia musculorum deformans: case report with surgical management. STUDY DESIGN: A case report of severe spinal lordosis with marked opisthotonus and retrocollis secondary to dystonia musculorum deformans is presented. OBJECTIVE: To describe a case of dystonia musculorum deformans with progressive spinal lordosis and its surgical treatment. SUMMARY OF BACKGROUND DATA: Four patients with correction of coronal spinal deformity associated with dystonia musculorum deformans have been reported in the literature. No reports of sagittal spinal deformity treated with surgical instrumentation and fusion were found. methods: A retrospective chart and radiographic review of a single case was conducted. RESULTS: Orthotic management and pharmacologic therapy with botulinum toxin injections were unsuccessful in controlling the deformity. Severe spinal lordosis (170 degrees ) from occiput to sacrum was corrected surgically, allowing an upright posture. CONCLUSION: dystonia musculorum deformans is a rare condition resulting in coronal or sagittal plane deformities. When other treatment methods are unsuccessful, surgical instrumentation and arthrodesis may correct the deformity and improve function. ( info) |
13/67. Progressive spinal lordosis after laminoplasty in a child with thoracic neuroblastoma. Laminoplasty has been advocated increasingly after spinal tumor excision in children. Results have shown that it offers the required decompression, while maintaining spinal stability and the integrity of the posterior vertebral elements. To the authors' knowledge, there has been no description of a progressive lordotic deformity of the thoracic spine after this procedure. A case of an 8-year-old boy with thoracic neuroblastoma developing progressive thoracic lordosis after laminoplasty is reviewed, and a possible cause is suggested. Discussing this potential complication with parents and the patient, and following up with regular clinical and radiographic assessments is advised. ( info) |
14/67. spinal cord injury in children. The spinal injured child has speical needs owing to the processes of physical, mental and social growth. goals of physical treatment programs include prevention of: genitourinary complications; contractures; pressure sores; long bone fractures, hip subluxation and dislocation; spinal deformity. Nonoperative treatment of spinal deformity employing external support should be initiated when the potential for spinal deformity exists. External support delays the development of spinal deformity, improves sitting balance and allows free upper extremity use. The overall treatment programs must consider altered body proportions, immaturity of strength and coordination. Case examples of children with spinal injury are presented above to illustrate specific problems stemming from immaturity of physical, cognitive, and social development. Spinal surgery can be a conservative measure in the growing child when there is radiologic evidence of progressive spinal deformity. Posterior spinal fusion with Harrington instrumentation and external support permits immediate return to vertical activity. ( info) |
| stiff-person syndrome was diagnosed in a patient with chronic low back pain. The diagnosis of this rare neurological condition rests mainly on the clinical findings of axial and proximal limb rigidity, increased lumbar lordosis often accompanied with pain, and normal neurological findings apart from brisk deep tendon reflexes. electromyography of the lumbar paraspinal muscles shows motor unit firing at rest with normal appearance of the motor unit potentials. Titers of antibody to glutamic acid decarboxylase are elevated. diazepam is the treatment of reference. Physical therapy can substantially improve quality of life. ( info) |
16/67. Cervicogenic headache: the importance of sticking to the criteria. Cervicogenic headache (CEH) is a headache, but its origin is in the neck. Recently, two cases of intracranial tumour, which unfortunately were originally diagnosed as CEH, were published. The authors felt that this sequence of events demonstrates the insufficiency of the current CEH criteria. We--on the other hand--feel strongly that, on the contrary, this small challenge may have demonstrated the robustness of the CEH criteria. The criteria of CEH were actually not fulfilled at any time. We marshal our arguments in support of this view and concentrate on one of their cases (no. 1). ( info) |
17/67. Radiculitis distress as a mimic of renal pain. It is the experience of the urological author that radiculitis secondary to costovertebral joint derangement is the most common cause of lower abdominal pain. However, this pain is sometimes made worse when the patient is subjected to a flank incision for presumed renal disease, since the aftermath of a flank incision may be a downward pull on a rib owing to detachments of muscles attached to its superior surface. Emotional problems, too, befall many patients with radiculitis-despondency over delayed diagnoses or sensitivity at having been told their complaints are psychosomatic. Most often theses difficulties disappear spontaneously once the pain is relived. Definitive diagnosis requires orthopedic techniques. Unfortunately, few orthopedists are well versed or interested in the syndrome of renal pain. When they are, erroneous diagnosis can be corrected and a course of conservative or surgical treatment prescribed, with excellent results. ( info) |
18/67. Segmental motor paralysis after expansive open-door laminoplasty. STUDY DESIGN: A retrospective study was conducted to investigate patients in whom segmental motor paralysis developed after expansive open-door laminoplasty for cervical myelopathy. OBJECTIVE: To propose the involvement of the spinal cord as a possible mechanism in the development of segmental motor paralysis. SUMMARY OF BACKGROUND DATA: Segmental motor paralysis is seen occasionally in patients who undergo expansive open-door laminoplasty for cervical myelopathy, and has long been attributed to nerve root lesions caused by either traumatic surgical techniques or a tethering effect induced by excessive posterior shift of the spinal cord after decompression. Involvement of spinal cord pathology is not suggested in the English literature. methods: The study group consisted of 15 patients (11 men and 4 women) in whom postoperative segmental motor paralysis developed after expansive open-door laminoplasty during a minimum follow-up of 2 years. Their average age at the time of surgery was 56 years. Characteristics of the paralysis, clinical symptoms, recovery rates calculated using pre- and postoperative Japanese Orthopedic association scores, and radiographic findings including pre- and postoperative magnetic resonance images were analyzed retrospectively and compared with those of 126 patients without segmental paralysis who underwent expansive open-door laminoplasty. RESULTS: The paralysis occurred mainly, but not only, at C5, and eight patients had multilevel involvements predominantly in the hinge side, whereas two patients had paralysis on both sides. The paralysis had developed after an average of 4.6 days. Of the 15 patients, 14 reported severe numbness or dysesthesia in their hands before surgery, and their average recovery rate for upper extremity sensory disturbance was lower than for those without paralysis. Postoperative magnetic resonance imaging showed the presence of a T2 high-signal intensity zone in the spinal cord of all the patients. The level of such abnormal signal areas corresponded to the level of paralyzed segments in 10 of the 15 patients. paralysis resolved completely in 11 patients. CONCLUSIONS: Delayed onset of paralysis, dysesthesiain the upper extremities, and the presence of T2 high-signal intensity zones suggest that a certain impairment in the gray matter of the spinal cord may play an important role in the development of postoperative segmental motor paralysis. ( info) |
19/67. A Schinzel-Giedion-like syndrome--a milder version or a separate condition? We report two 12-year-old monozygotic twins followed from birth. Their features include midface hypoplasia, a prominent forehead, coarse features, sensorineural deafness, short stature with thoracic kyphosis and lumbar lordosis and intellectual delay. As they have developed, their features have been reminiscent of a storage disorder but mucopolysaccharidoses, mucolipidoses and gangliosidoses have been excluded by biochemical testing. We discuss the phenotypic overlap with the Schinzel-Giedion syndrome but highlight the important differences. Individuals with Schinzel-Giedion syndrome tend to have renal and cardiac malformations and to have a very poor outlook, often dying in the first 3 years of life. We suggest that these twins have a previously undescribed Schinzel-Giedion like syndrome. ( info) |
20/67. Lymphangiomatosis of the spine: two cases requiring surgical intervention. STUDY DESIGN: Two cases of lymphangiomatosis of the spine are presented. OBJECTIVES: To report two cases of lymphangiomatosis of the spine requiring surgical intervention and to review the literature. SUMMARY OF BACKGROUND INFORMATION: Lymphangiomatosis is a rare childhood disease characterized by abnormal lymph tissue at multiple sites. Skeletal and visceral involvement are both common. prognosis depends on the extent of extraskeletal disease. methods: Two cases of lymphangiomatosis causing neural compression and instability at the cervicothoracic junction are presented. Both patients underwent surgical decompression and stabilization. RESULTS: One patient died, whereas the other regained full function and activity. CONCLUSIONS: Surgery is indicated when lymphangiomatosis causes neural compression and instability of the spine. Surgical outcome is strongly influenced by extraskeletal involvement. ( info) |