Larsen's syndrome associated with hydrocephalus

A female infant is diagnosed as having Larsen's syndrome associated with hydrocephalus. Larsen's syndrome is a rare disease characterized by congenital multiple joint dislocations and unusual facies. The pathogenesis is described as a mesodermal disorder. The present case remains a medical curiosity because there have been no previous reports of Larsen's syndrome associated with anomalies of the central nervous system. The author discusses the etiology, linking Larsen's syndrome to the hydrocephalus seen in this patient.     

Syndactyly with Larsen's syndrome.

The association of syndactyly with Larsen's syndrome is reported. A revised listing of syndromes which may be associated with syndactyly is presented.     

Spinal deformities in Larsen's syndrome

Eight patients with Larsen's syndrome were investigated and found to have a characteristic pattern of spinal deformity consisting of vertebral anomalies, spondylolysis, and scoliosis. The cervical spine was the most severely involved, and dysraphism as well as hypoplasia represented the most consistent patterns of deformity. Scoliosis was the most common deformity seen in the thoracic spine, whereas dysraphism, scoliosis, and spondylolysis were common in the lumbar spine. Dysraphism again was the most common anomaly in the sacrum. In the young patient, the spine may be difficult to evaluate because major portions of the elements are cartilaginous, and serial roentgenographic evaluations may be required. Early treatment may minimize the severity of the deformities and prevent sequelae.     

Orthopedic treatment of a boy with Larsen's syndrome

A case of Larsen's syndrome in a boy is presented. The syndrome is characterized by flattened facies, multiple congenital dislocations and foot deformities as a result of connective tissue maldevelopment during gestation. The importance of early intensive conservative therapy is emphasized. In the case reported, conservative therapy led, in the first stage, to the management of subluxation of both hips and improvement in left foot position and in the state of both knees. Subsequently, dislocations of the right and the left knee joint were surgically treated at 16 and 20 months, respectively, by reduction and transfixation with Kirschner's wires according to Niebauer and King. After six weeks of plaster immobilization, the wires were removed and the knee position was corrected with laminate splints. The authors point out that the syndrome is often associated with cardiovascular anomalies. Although these were not present in the case reported, due to the repeated occurrence of pericardial exudates from 2 years of the child' age, it was not possible to manage his left foot (pes equinovarus) surgically earlier than at 36 months. For that procedure, the method of posteroplantar release was used. The authors also discuss the occurrence of vertebral anomalies in Larsen's syndrome that may lead to cervical kyphosis and, potentially, to cervical spine instability. In our case, the signs of kyphosis were observed in the C1-C3 region but magnetic resonance imaging did not show any signs of either myelopathy or narrowing of the spinal canal. The intensive conservative and surgical treatment with subsequent thorough rehabilitation enabled the patient to stand up and walk without any support or orthotics. The fact that the boy was able to integrate in healthy children's playgroups can be considered a great achievement of orthopedic therapy.     

Surgical risk factors in Larsen's syndrome

The authors report on a child with typical Larsen's syndrome with some rare findings such as mixed-type hearing loss and with some potentially fatal operative risks including laryngomalacia and cervical instability. A few deaths with Larsen's syndrome have been reported associated with various fatal risks such as spinal instability. Therefore, laryngomalacia and several other potentially fatal risks are presented in this report as awareness may prove essential to orthopedic surgeons.     

Cervical spine abnormalities associated with Down syndrome

Atlantoaxial instability (AAI) affects 10-20% of individuals with Down syndrome (DS). The condition is mostly asymptomatic and diagnosed on radiography by an enlarged anterior atlanto-odontoid distance. Symptomatic AAI, which affects 1-2% of individuals with DS, manifests with spinal cord compression. Cervical spondylosis, which is common in DS, also has the potential for cord damage but it has received less attention because paediatric populations were mostly studied. Forty-four Kuwaiti subjects with DS, whose ages were > or = 15 years, were evaluated clinically and radiographically. Lateral neck radiographs were taken in the neutral and flexion positions. Asymptomatic AAI was diagnosed in eight subjects (18%) and congenital anomalies of C1-2 were found in five (12%). Five patients had AAI in flexion only while three patients had it in both views. Three patients with AAI had odontoid anomalies contributing to the condition. When assessing AAI, the posterior atlanto-odontoid distance has to be considered because it indicates the space available for the cord. Cervical spondylosis was noted in 16 (36%) subjects. Degenerative changes increased with age, occurred earlier than in the normal population, and affected mostly the lower cervical levels. Half the patients with AAI had cervical spondylosis, a comorbidity that puts the cord at increased risk.     

Cervical neurofibromatosis with quadriparesis: Management by fibular strut graft

This is a case report of an eight-year old boy with neurofibromatosis and a 120° dystrophic kyphosis of the cervical spine. He presented with progressive quadriparesis caused by spondyloptosis of the C2/C3, and was successfully treated by skull traction and one-stage anterior fibular strut graft lying between the tubercle of the atlas through the C2 body slot and lower vertebrae. At seven years follow-up there was, loosening of lower vertebral screws which allowed growth and residual mobility of lower vertebral joints while the fusion of upper cervical spines was still solid.     

Cervical kyphosis in diastrophic dysplasia.

STUDY DESIGN: An evaluation of cervical kyphosis in diastrophic dysplasia from newborn to adult life. OBJECTIVES: To discover the prevalence and natural history of cervical kyphosis in diastrophic dysplasia. SUMMARY OF BACKGROUND DATA: Typical findings in this rare skeletal dysplasia are sport-limbed short stature, multiple joint contractures, early degeneration of joints, and spinal deformities such as cervical kyphosis, scoliosis, and exaggerated lumbar lordosis. In diastrophic dysplasia, spontaneous resolution of cervical kyphosis has been reported, but so have severe forms causing medullar compression leading to quadriplegia and death. The prevalence and clinical outcome of the kyphosis are not known. METHODS: The radiographic natural history of the cervical spine was studied in 120 patients. They varied in age from newborns to 63-year-olds. The average follow-up time in 26 living patients with cervical kyphosis was 10.0 years. RESULTS: Midcervical kyphosis was noted in 29 patients (24%) in their first radiograph. In 25 patients, the first radiographs were taken before the age of 18 months, and 24 of these patients (96%) had cervical kyphosis. The most severe case was that of a 32-year-old patient with a 165 degrees kyphosis. In the 24 patients, the kyphosis resolved spontaneously at an average age of 7.1 years. Three patients with a severe kyphosis died; one patient is alive. One patient, a 4-year-old child has mild resolving deformity. CONCLUSIONS: Cervical kyphosis in diastrophic dysplasia usually is shown at the time of birth. It resolves spontaneously during growth and seldom needs treatment. Careful follow-up study and treatment, if necessary, are important tools for avoiding the neurologic problems and fatal outcome.     

Traumatic cervical instability associated with cord oedema and temporary quadriparesis

STUDY DESIGN: A case report of blunt cervical spine trauma associated with cord oedema at the C3/C4 level with temporary Frankel/American Spinal Injury Association Grade A quadriparesis and motion segment instability without evidence of associated bony lesions (spinal cord injury without radiological abnormality, SCIWORA lesion). OBJECTIVES: By means of a rare and illustrative case, the reader's attention is focused on eventual marked cervical motion segment instability in SCIWORA patients. SETTING: A department of Neurology in Quito, Ecuador and a department of Neurosurgery in Bern, Switzerland. METHOD: A 73-year-old man sustained blunt cervical spine trauma. After resolution of paraparesis, dynamic studies of the cervical spine revealed translational instability of C3 over C4. The patient underwent segment fusion by intervertebral cage insertion and plate fixation. RESULTS: The patient had recovered almost completely from tetraparesis under conservative treatment. The postoperative course was uneventful. Solid bony fusion of the C3/C4 motion segment was obtained. CONCLUSION: Despite normal cervical alignment, the lack of bony lesions and neurological recovery, magnetic resonance imaging and dynamic studies may reveal marked translational cervical motion segment instability requiring segment fusion in order to prevent ongoing damage of the spinal cord.     

Biochemical and structural abnormalities of the connective tissue in Larsen's syndrome

Summary Skin, iliac crest cartilage and tendon of a patient affected with Larsen's syndrome were subjected to biochemical and ultrastructural investigation. A substantial increase in the ratio of glucosamine to galactosamine was found both in skin and cartilage. Ultrastructural abnormalities of collagen fibres and proteoglycan filaments were also found in Larsen's tissues. The significance of these findings are discussed.

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Résumé Des fragments de peau, de tendon et de cartilage prélevé au niveau de la crête iliaque chez un sujet atteint de syndrome de Larsen ont fait l'objet d'examens chimiques et d'observations en microscopie électronique. Une augmentation notable du rapport glucosamine/galactosamine a été mise en évidence, tant au niveau de la peau que du cartilage. On a également trouvé des anomalies de la structure des fibres collagènes et des filaments de protéoglycans. L'auteur discute la significantion de ces faits.

     

Thoracolumbar kyphoscoliosis in Larsen's syndrome. A case report

Severe thoracolumbar kyphosis in Larsen's syndrome is rare. A successful 10-year treatment course, including T2-L4 subfascial rod placement when the patient was 6 years 3 months of age, nine periodic lengthenings, and definitive surgery at age 14 years 4 months is presented. From preoperative to 2-year postoperative definitive surgery, the patient's T1 to S1 spine length increased from 19 to 36 cm. The patient's 83 degrees thoracolumbar kyphosis was transformed to 45 degrees kyphosis and 28 degrees lumbar lordosis, and scolioses of 95 degrees and 65 degrees were reduced to 64 degrees and 50 degrees.     

遗传综合征型颈椎后凸畸形的分类及治疗

正遗传综合征(genetic syndrome)是由遗传因素引起的婴幼儿时期出现多种畸形的综合征。这些综合征大多合并脊柱的畸形,而颈椎后凸畸形易继发颈椎失稳与椎管狭窄,引起严重临床症状,是脊柱畸形中最危险的一类。由于这些综合征较为罕见,目前尚无统一的临床诊治标准,常发展至极其严重的程度才引起患者重视,影响患者的正常生活,甚至威胁患者的生命安全,因此我们对遗传综合征