Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia (original) (raw)
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The cervical spine in the skeletal dysplasias and associated disorders
Pediatric radiology, 1997
The cervical spine is an especially important area, not only for the diagnosis of the skeletal dysplasias, but also for the management of the patient. By the "cervical spine" I refer not only to the vertebral bodies and posterior elements of this region, but also to the neural elements contained within, especially the cervical cord. The spine is supported by a group of ligaments both anteriorly and posteriorly, with special fixation of the odontoid and C2 by a ligament which normally affixes it firmly to C1. Multiple things may go wrong with the development of the cervical spine. There may be abnormal development of the "vertebrae" in this region, ranging from hypoplasia to developmental failure and/or abnormal ossification of the cervical vertebrae; associated or unassociated odontoid hypoplasia; poor ligamental fixation of C2 resulting in C1-2 subluxation; abnormal development of the posterior processes; abnormal ligamental development or laxity with abnormal c...
Skeletal dysplasia involving the subaxial cervical spine
Neurosurgical FOCUS, 2006
✓ Because skeletal dysplasias are primary disorders of bone, they have not been commonly understood as neurosurgical diseases. Nevertheless, neurosurgical complications are commonly encountered in many cases of dysplasia syndromes. The authors present two cases of skeletal dysplasia that caused overt instability of the cervical spine. One patient with a diagnosis of Gorham disease of the cervical spine was treated with prolonged fixation in a halo brace after an initial attempt at instrumentation with a posterior occiput–C4 fusion. The other patient, who at birth was identified to have camptomelic dysplasia, has been treated conservatively from the outset. Although these two patients presented with different disorders—in one patient adequate mature bone never formed and in the other patient progressive bone loss became apparent after a seemingly normal initial development—these cases demonstrate unequivocally that surgical options for fusion are ultimately limited by the quality of ...
American Journal of Medical Genetics, 2002
Spondylometaphyseal dysplasias (SMD) are a heterogeneous group of bone dysplasias characterized by vertebral and metaphyseal changes of various severities. We report two unrelated patients of east African origin with a skeletal disorder consisting of 1) severe metaphyseal dysplasia of early onset, sparing hand bones, with bracket-shaped metaphyses; 2) dysplastic pelvis with irregular iliac rim; and 3) oval-shaped vertebral bodies. Contrasting with most types of SMD, the spinal dysplasia is limited to mild changes in the vertebral body shape that tend to soften with time, whereas the iliac rims have a striking lacy appearance. Except for the most common types (Kozlowski type and Schmidt type), most of the literature on SMD deals with single case reports, without longitudinal data, for which molecular definition is still lacking and classification remains unclear. These two patients could belongs to the A4 group in the classification of Maroteaux and Spranger [1991: Pediatr Radiol 2l:293-297], and illustrate the difficulties of a clinical classification of SMD. ß 2002 Wiley-Liss, Inc.
Report of two adult with occult cervical spinal dysraphism and scoliosis
Abant Medical Journal, 2014
Spinal disrafizm (SD), embriyogenez sırasında nöral tüpün kapanmasındaki bozukluğa bağlı omurganın kemik ve nöral yapılarının kısmi birleşmesi veya malformasyonudur. Omurganın arka kısmının orta hat boyunca tam olarak kapanmaması söz konusudur. SD sıklıkla torakolomber ve ve lumbosakral seviyelerde oluşur ve servikal SD tüm spinal anomalilerin %1-5'ini oluşturan nadir bir durumdur. SD açık ve kapalı(gizli) olmak üzere iki şekilde ortaya çıkmaktadır. Gizli SD, genellikle düz grafi veya manyetik rezonans görüntüleme sırasında tesadüfen saptanmaktadır. Klinik olarak önemli gizli SD, kas kuvvetsizliği, cilt anormalliği, Klippel-Feil Sendromu, torasik hemivertebra, ayak deformitesi, duysal anormallik, üriner inkontinans, yürüyüş bozukluğu ve skolyoza neden olabilir. Boyun ve sırt ağrısıyla başvuran ve gizli SD ve torakolomber skolyoz saptanan iki erişkin kadın olguyu sunuyoruz. Servikal SD nadiren bildirilmesine rağmen, dermatolojik, nörolojik ve ürogenital hastalıklarla birlikte skolyoz gibi ortopedik bozukluklarla da birlikte ortaya çıkabilir. Spinal dysraphism (SD) is the partial fusion or malformation of bone and neural structures of the spine by errors in the closure of the neural tube during embryogenesis. SD commonly occurs at the thoracolumbar and lumbosacral levels, and cervical SD is an uncommon condition that comprises 1-5% of all spinal anomalies. Occult SD is generally diagnosed incidentally on plain radiography or magnetic resonance imaging. Clinically important occult SD may cause muscle weakness, cutaneous abnormality, Klippel-Feil syndrome, thoracic hemivertebra, foot deformity, sensory abnormality, urinary incontinence, gait abnormality and scoliosis. We report two adult females with occult cervical spinal dysraphism and thoracolumbar scoliosis who presented with neck and shoulder pain. Although cervical SD has rarely been reported, this report highlights that may be associated with orthopedic abnormalities such as scoliosis as well as cutaneous, neurologic and urogenital disorders.
American Journal of Medical Genetics, 2003
T hree additional patients, including a father and daughter, with spondyloepimetaphyseal dysplasia and multiple dislocations are presented. This is the first report of dominant inheritance, with variable intrafamilial expressivity of this disorder. All patients showed facial dysmorphism with a short, broad, upturned nose. There were striking epiphyseal and metaphyseal changes of the long bones and joint laxity with multiple dislocations of the large joints, which were particularly incapacitating at the knees. This skeletal dysplasia showed some overlapping features with SPONASTRIME dysplasia, but with the addition of epiphyseal changes with abnormal articular bone modelling and premature osteoarthritis.
Flexion-Extension Cervical Spine MRI in Children With Skeletal Dysplasia
Journal of Pediatric Orthopaedics, 2013
Background: Skeletal dysplasias may be associated with cervical spinal instability or stenosis. Cervical spine flexion-extension plain radiographs in children with skeletal dysplasia are difficult to interpret. The purpose of this study was to review the indications, efficacy, and safety of performing flexion-extension magnetic resonance imaging (MRI) under sedation/anesthesia in these children. Methods: Retrospective, Institutional Review Board-approved review of 31 children with skeletal dysplasia who underwent 38 cervical spine flexion-extension MRI studies under sedation/ anesthesia. Indications included abnormal neurological examination, suspected instability, stenosis, or inconclusive findings on flexion-extension radiographs. Studies were performed by the radiology technologist as directed by the radiologist with an anesthesiologist present. MRI was evaluated for odontoid hypoplasia, os odontoideum, cerebrospinal fluid effacement, cord compression, spinal cord changes, cervical canal narrowing in the neutral, flexion, and extension positions. Neurological examinations were recorded before and after MRI to assess safety. Results: The average age at MRI was 3 years, 2 months. In 6 patients whose plain radiographs showed C1-C2 or subaxial instability, flexion-extension MRI showed no cord compression. Nine patients with inconclusive plain radiographs had abnormal MRI findings. An os odontoideum not seen on plain radiographs was diagnosed in 3 patients on flexion-extension MRI. On the basis of the MRI findings, 14 patients underwent surgery, 9/14 had increased cord compression in flexion or extension compared with neutral, and observation was continued in 17 others. Patients who underwent surgery had significant cord compression on MRI. There were no significant changes in the neurological examinations after MRI. Conclusions: Cervical spine flexion-extension MRI under sedation/anesthesia in children with skeletal dysplasia is safe under adequate supervision and is necessary to guide accurate medical and surgical decision making. Flexion-extension MRI is useful for identifying dynamic changes in canal diameter resulting in cord compression not seen on plain radiographs, and it is also useful for identifying patients with suspected plain film instability who may not have stenosis or cord compression on MRI.
Study of Anomalies of Cervical Vertebrae
International Journal of Anatomy and Research, 2016
Introduction: Fused cervical vertebrae may be congenital. This anomaly may be asymptomatic, or it may also appear with manifestations of serious clinical features such as myelopathy, limitation of the neck movements, muscular weakness, atrophy and neurological sensory loss, or may be associated with syndrome such as Klippel-Feil. Materials and Method: This study included 350 cervical vertebrae from department of anatomy of various medical institutions. Result: We found complete ossification of anterior as well as posterior longitudinal ligaments in cervical vertebrae. Some other fusion anomalies are also found in same vertebrae. Conclusion: The present study highlights the ossification of anterior and posterior longitudinal ligaments in the region of cervical vertebrae as a part of diffuse idiopathic skeletal hyperostosis.
A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization
American Journal of Medical Genetics Part A, 2013
We report on two patients with a severe form of spondyloepimetaphyseal dysplasia (SEMD). Both patients show normal birth length, early postnatal growth deficiency, severe short stature, flexion contractures in the hips, bowing of the legs with genu varum. Skeletal radiographies show platyspondyly and characteristic vertebral body shape with central indentation of endplates, progressive, and severe metaphyseal changes, very small and irregular proximal femoral epiphyses with severe coxa vara, absence of calcifications, and mild metaphyseal irregularities in upper limbs.
Spondylometepiphyseal dysplasia, strudwick type
American Journal of Medical Genetics, 1982
The clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observations on chondro-osseous tissue from two of these 14 patients form the basis for delineating an entity distinct from the heterogeneous group of skeletal dysplasia involving spine and tubular bones, the spondyloepiphyseal, and spondylometaphyseal dysplasias. Disproportionately short limbs and delayed epiphyseal maturation are present at birth, and the entity is radiographically indistinguishable from spondyloepiphyseal dysplasia (SED) congenita during infancy. The metaphyseal change that allows identification of the entity described here develops during early childhood, and radiographically is seen as "dappling," ie, the mottled appearance of alternating zones of osteosclerosis and osteopenia. Severe scoliosis and cord compression may be important clinical problems related to the spine changes in adulthood. We have identified one family with two affected sibs and normal parents, suggesting autosomal recessive inheritance and distinguishing the entity from SED congenita that has autosomal dominant inheritance.
Spondyloepimetaphyseal Dysplasia (SEMD) Shohat Type
Recently a distinct spondyloepimetaphyseal dysplasia (SEMD) was reported in three members of a Jewish family. We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked genua vara, and joint laxity. Roentgenologic findings include short long bones, wide and flared metaphyses with irregularities, delayed epiphyseal ossification, platyspondyly and morphological changes of vertebral bodies and fibular overgrowth. The striking resemblance of this patient to those previously reported confirms this form of SEMD as a distinct entity. Autosomal recessive inheritance is supported and the designation SEMD Shohat type is proposed.