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Letters to the Editor
Occipito-Vertebral Dissociation in Connection with Extensive Cervical Spine Malsegmentation in a Boy with Möbius Syndrome
Ali Al KaissiI, Klaus KlaushoferI, Franz GrillII
I Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 4th Medical Department, Hanusch Hospital Vienna – Vienna, Austria
II Orthopaedic Hospital of Speising, Paediatric Department - Vienna, Austria. Tel.: 00 43 1 91021 86924
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          "en" => "<p id="spara20" class="elsevierStyleSimplePara elsevierViewall">Sagittal MRI imaging revealing <span class="elsevierStyleItalic">discontinuity of the cervical ligaments</span>&#46; Note the disruption of the anterior atlanto-occipital ligament&#44; which connects the lower anterior clivus with the anterior aspect of the body of C2&#44; <span class="elsevierStyleItalic">as visualized by the superior continuation of the anterior longitudinal ligament&#46;</span> In addition&#44; disruption of the anterior longitudinal ligament is evident &#40;arrow-b&#41;&#46; Note the dislocated atlas &#40;arrow-c&#41; and compression of the <span class="elsevierStyleItalic">dura mater</span> space&#46; Line &#40;d&#41; represents the Wachenheim-clivus line &#40;a method to evaluate craniocervical abnormalities&#41;&#46; The line is drawn along the posterior aspect of the clivus&#44; toward the odontoid process &#40;OP&#41;&#46; In normal subjects&#44; the line is tangential to the posterior aspect of the OP&#46; In contrast&#44; in our patient&#44; this line intersects the anterior aspect of the OP</p>"
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="cesec10" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cestitle10">INTRODUCTION</span><p id="para10" class="elsevierStylePara elsevierViewall">M&#246;bius<a class="elsevierStyleCrossRef" href="#bib1">1</a> syndrome has drawn attention to patients with congenital&#44; non-progressive bilateral facial and abducens palsies&#46; Anomalies of other cranial nerves&#44; such as the hypoglossal &#40;XII&#41;&#44; craniofacial&#44; or orofacial nerves&#44; and limb malformations are often encountered in association with M&#246;bius syndrome&#46; The etiology and pathogenesis of M&#246;bius syndrome are still controversial&#46; Patients with M&#246;bius syndrome are generally asymptomatic&#44; but increasing age and injury may precipitate symptoms&#46; Though most cases are sporadic&#44; a few families with hereditary M&#246;bius syndrome have been described&#46;<a class="elsevierStyleCrossRef" href="#bib1">1</a>&#8211;<a class="elsevierStyleCrossRef" href="#bib4">4</a><span class="elsevierStyleItalic">Vertebral abnormalities are not a well-known feature in patients with M&#246;bius syndrome&#46; None the less&#44;</span> fusion of one or more contiguous segments results from the embryological failure in normal spine segmentation&#46;<a class="elsevierStyleCrossRef" href="#bib5">5</a></p><p id="para20" class="elsevierStylePara elsevierViewall">This phenomenon is most likely the result of a decreased local blood supply during the third to eighth week of fetal development&#46;<a class="elsevierStyleCrossRef" href="#bib6">6</a></p><p id="para30" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">In patients with vertebral fusion premature</span> degenerative changes at adjoining motion segments are common&#44; as this condition results in greater biomechanical stress in adjoining segments&#46; Discal tears&#44; rupture of transverse ligaments&#44; fractures of the odontoid process and spondylosis are common consequences&#46; Injuries to the atlanto-occipital region can range from complete atlanto-occipital or atlanto-axial dislocation to nondisplaced occipital condyle avulsion fractures&#46;<a class="elsevierStyleCrossRef" href="#bib7">7</a>&#8211;<a class="elsevierStyleCrossRef" href="#bib10">10</a> In the present case study&#44; we detected pre- and postnatal injuries by analyzing the details of cervical spine ligamental and osseous disruptions by MRI imaging&#46; The combination of occipito-vertebral dissociation &#40;distraction-separation&#41; associated with extensive cervical spine malsegmentation can be considered as a novel syndromic variant associated with M&#246;bius syndrome&#46;</p></span><span id="cesec20" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cestitle20">CLINICAL REPORT</span><p id="para40" class="elsevierStylePara elsevierViewall">A 5-year-old boy was referred to the orthopedic department for clinical evaluation&#46; He was the first child of healthy&#44; non-consanguineous parents&#46; At birth&#44; his growth parameters were around the 50<span class="elsevierStyleSup">th</span> percentile&#46; Maternal history was non-contributory &#40;no history of spontaneous or elective abortions and&#47;or prenatal exposure to misoprostol&#41;&#46; Congenital facial diplegia was noted at birth together with ligamentous hyperlaxity and poor sucking&#44; which led to feeding and choking problems&#46; His subsequent development was slow&#46; Walking was achieved at the age of 18 months&#44; albeit with difficulty&#46; Speech and language were significantly retarded&#44; as were coordination skills&#46; Conductive hearing loss was attributed to enlarged tonsils&#46;</p><p id="para50" class="elsevierStylePara elsevierViewall">Examination at the age of 5 years showed growth around the 50<span class="elsevierStyleSup">th</span> percentile&#44; facial diplegia&#44; ptosis&#44; and bilateral abducens nerve palsy with retraction of the bulb on lateral gaze&#46; Limb abnormalities included partial syndactyly of the 2<span class="elsevierStyleSup">nd</span>&#44; 3<span class="elsevierStyleSup">rd</span>&#44; and 4<span class="elsevierStyleSup">th</span> fingers and partial syndactyly of the 3<span class="elsevierStyleSup">rd</span>&#44; 4<span class="elsevierStyleSup">th</span>&#44; and 5<span class="elsevierStyleSup">th</span> toes&#46; The latissmus dorsi&#44; trapezius&#44; and pectoralis muscles were hypoplastic&#46; The lower limbs demonstrated genu valgum &#40;knock-knees&#41;&#46; Thoracic kyphosis associated with painful and restricted mobility of the neck was noted&#46; Neurological examination evoked suboccipital and neck pain&#44; and the upper arms were weak&#46; Some limitations were noted in cervical motion&#44; especially with respect to rotation and lateral bending&#46;</p><p id="para60" class="elsevierStylePara elsevierViewall">The cardiologic examination was normal&#44; as were the renal ultrasound scans&#46; Laboratory studies demonstrated normal white and red blood cell and platelet counts and normal calcium&#44; phosphorus&#44; and alkaline phosphatase levels&#46; Urine amino acids and mucopolysaccharides were normal&#44; and the patient had a normal karyotype&#46;</p><p id="para70" class="elsevierStylePara elsevierViewall">In view of the seriousness of the patient&#8217;s cervical lesions&#44; exploratory procedures were not recommended and dynamic X-rays were considered as too dangerous to perform&#46; A lateral craniocervical radiograph showed that&#44; throughout the cervical spine&#44; there was extensive fusion of both the anterior and posterior elements in association with occipito-vertebral dissociation &#40;arrow&#41; &#40;<a class="elsevierStyleCrossRef" href="#f1-cln_64p1034">Figure 1</a>&#41;&#46; MRI imaging revealed increased discontinuity&#47;disruption of the ligaments effectively causing the observed occipito-vertebral dissociation &#40;<a class="elsevierStyleCrossRef" href="#f2-cln_64p1034">Figure 2</a>&#41;&#46;</p><elsevierMultimedia ident="f1-cln_64p1034"></elsevierMultimedia><elsevierMultimedia ident="f2-cln_64p1034"></elsevierMultimedia><p id="para80" class="elsevierStylePara elsevierViewall">Initial treatment of the patient involved immobilization for variable lengths of time&#44; followed by re-evaluation by MRI imaging&#46; Awareness and monitoring of the complications associated with M&#246;bius syndrome <span class="elsevierStyleItalic">should be</span> instituted&#46;</p></span><span id="cesec30" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cestitle30">DISCUSSION</span><p id="para90" class="elsevierStylePara elsevierViewall">M&#246;bius syndrome is characterized by non-progressive&#44; congenital facial and abducens palsy and can be associated with other cranial nerve palsies&#44; orofacial dysmorphisms&#44; and limb or axial malformations&#46;<a class="elsevierStyleCrossRef" href="#bib1">1</a></p><p id="para100" class="elsevierStylePara elsevierViewall">A number of reports have evaluated the extent of the malformations that occur in M&#246;bius patients&#46; Larrandaburu et al&#46;<a class="elsevierStyleCrossRef" href="#bib11">11</a> reported a family in which a 14-year-old girl had a combination of Poland and M&#246;bius syndromes and a maternal aunt had features only of M&#246;bius syndrome&#46; Hennekam<a class="elsevierStyleCrossRef" href="#bib12">12</a> reported a family in which one individual had a Poland-associated anomaly&#44; another had a hemifacial microsomia&#44; and yet another had a neural tube defect&#46; An etiology of vascular origin was hypothesized&#46; In support of this hypothesis&#44; Lipson et al&#46;<a class="elsevierStyleCrossRef" href="#bib13">13</a> reported the cases of two infants&#59; one had &#8220;classical M&#246;bius syndrome&#8221; but without any hand abnormalities&#44; and the other had hypertonic cerebral palsy and was shown postmortem to have hypoxic&#47; ischemic lesions in the caudate nucleus&#44; putamen&#44; and striatum&#46; In both of these cases the mothers had suffered trauma during pregnancy at 18 and 14 weeks of gestation&#44; respectively&#44; resulting in rupture of the spleen and severe hypotension&#46; Pedraza et al&#46;<a class="elsevierStyleCrossRef" href="#bib14">14</a> evaluated the MRI findings of three patients with M&#246;bius syndrome&#46; MRI scans revealed brainstem hypoplasia with straightening of the fourth ventricle floor indicating an absence of the facial colliculus&#46; Verzijl et al&#46;<a class="elsevierStyleCrossRef" href="#bib4">4</a> described M&#246;bius syndrome as a condition of rhombencephalic maldevelopment that includes Duane retraction syndrome &#40;34&#37;&#41;&#44; conjugated horizontal gaze palsy &#40;48&#37;&#41;&#44; congenital fibrosis of the extraocular muscles &#40;9&#37;&#41;&#44; and lingual involvement &#40;77&#37;&#41;&#46; Dysfunction of the palate and pharynx occurred in 56&#37; of cases&#44; and respiratory problems&#44; incoordination&#44; and other features were thought to originate in the lower brain stem&#46; None of the abovementioned case studies reported spinal malformations&#44; as observed in our patient&#46;</p><p id="para110" class="elsevierStylePara elsevierViewall">Facial weakness&#44; Duane anomaly&#44; and vertebral abnormalities are a well-known set of malformation complexes that occur in association with Goldenhar&#44;<a class="elsevierStyleCrossRef" href="#bib15">15</a> Wildervanck&#44;<a class="elsevierStyleCrossRef" href="#bib16">16</a> and Hanhart syndromes&#46;<a class="elsevierStyleCrossRef" href="#bib17">17</a> The overall clinicoradiographic features of our patient did not fit any of these syndromic entities&#46;</p><p id="para120" class="elsevierStylePara elsevierViewall">The craniocervical junction is a complex articulation consisting of multiple ligamentous structures&#46; In normal individuals&#44; the anterior third of the cervico-occipital canal is occupied by the dens axis and the middle third by the spinal cord&#44; which&#44; once infringed upon&#44; can result in spinal cord injury&#46; The combination of occipito-vertebral dissociation and hypermobility at the atlantoaxial junction&#44; secondary to extensive malsegmentation of the upper cervical vertebras&#44; uniquely predisposes patients with syndromic malformation complexes to various serious neurological deficits&#44; as observed in our patient&#46; The most common of these neurological deficits is myelopathy&#44; which results in quadriplegia&#44; paraplegia&#44; weakness of the lower limbs&#44; crossed paralysis&#44; or hemiplegia&#46; Other manifestations include nuchal pain and stiffness&#44; foramen magnum syndrome&#44; or sudden death due to compression of vital structures at the cervicomedullary junction&#46;<a class="elsevierStyleCrossRefs" href="#bib8">8&#44;9&#44;18</a></p><p id="para130" class="elsevierStylePara elsevierViewall">Here&#44; we describe a patient with M&#246;bius syndrome in order to demonstrate the necessity&#44; when appropriate&#44; to detail the anatomy of the malformed occipito-vertebral junction and to signify the pathophysiology of the associated cervical spine malsegmentation&#46;</p></span></span>"
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          "en" => "<p id="spara10" class="elsevierStyleSimplePara elsevierViewall">Lateral radiograph showing atlanto-occipital dissociation &#40;more than 12 mm between the basion and dens with a space clearly visible between the cranium and C1&#41;&#46; The radiograph demonstrates extensive fusion throughout the cervical spine of both the anterior and posterior elements&#46; Note the extensive fusion of the vertebral bodies of C2&#47;3-4 and the total fusion of the spinous processes of C2-6&#46; Also&#44; note the detached os terminale &#40;arrow&#41;</p>"
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          "en" => "<p id="spara20" class="elsevierStyleSimplePara elsevierViewall">Sagittal MRI imaging revealing <span class="elsevierStyleItalic">discontinuity of the cervical ligaments</span>&#46; Note the disruption of the anterior atlanto-occipital ligament&#44; which connects the lower anterior clivus with the anterior aspect of the body of C2&#44; <span class="elsevierStyleItalic">as visualized by the superior continuation of the anterior longitudinal ligament&#46;</span> In addition&#44; disruption of the anterior longitudinal ligament is evident &#40;arrow-b&#41;&#46; Note the dislocated atlas &#40;arrow-c&#41; and compression of the <span class="elsevierStyleItalic">dura mater</span> space&#46; Line &#40;d&#41; represents the Wachenheim-clivus line &#40;a method to evaluate craniocervical abnormalities&#41;&#46; The line is drawn along the posterior aspect of the clivus&#44; toward the odontoid process &#40;OP&#41;&#46; In normal subjects&#44; the line is tangential to the posterior aspect of the OP&#46; In contrast&#44; in our patient&#44; this line intersects the anterior aspect of the OP</p>"
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Article information
ISSN: 18075932
Original language: English
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es en pt

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