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Atlantoaxial Instability in Down Syndrome

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Os Odontoideum in Children.

Daniel J Hedequist, Andrew Z Mo,

Os odontoideum is a rare entity of the second cervical vertebra, characterized by a circumferentially corticated ossicle separated from the body of C2. The ossicle is a distinct entity from an odontoid fracture or a persistent ossiculum terminale. The diagnosis may be made incidentally on imaging obtained for the workup ... Read more >>

J Am Acad Orthop Surg (The Journal of the American Academy of Orthopaedic Surgeons)
[2020, 28(3):e100-e107]

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Use of recombinant human bone morphogenetic protein for revision cervical spine fusion in children with Down syndrome: a case series.

Lara L Cohen, Brian W Yang, Nora P O'Neill, Mark R Proctor, Michael P Glotzbecker, Daniel J Hedequist,

OBJECTIVE:Patients with trisomy 21 (Down syndrome; DS) often have atlantoaxial instability (AAI), which, if severe, causes myelopathy and neurological deterioration. Children with DS and AAI who undergo cervical spine fusion have a high rate of nonunion requiring revision surgery. Recombinant human bone morphogenetic protein-2 (rhBMP-2) is a TGF-β growth factor ... Read more >>

J Neurosurg Pediatr (Journal of neurosurgery. Pediatrics)
[2020, :1-5]

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Atlantoaxial dislocation due to os odontoideum in patients with Down's syndrome: literature review and case reports.

Olga M Sergeenko, Konstantin A Dyachkov, Sergey O Ryabykh, Alexander V Burtsev, Alexander V Gubin,

PURPOSE:To clarify etiology, clinical features, and diagnostic and treatment options of atlantoaxial dislocation (AAD) due to os odontoideum (OsO) in patients with Down's syndrome (DS). METHODS:We described and analyzed three clinical cases of AAD due to OsO in DS patients and reviewed descriptions of similar cases in the scientific sources. ... Read more >>

Childs Nerv Syst (Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery)
[2020, 36(1):19-26]

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Halo-gravity traction for the treatment of pediatric cervical spine disorders.

Bram P Verhofste, Michael P Glotzbecker, Craig M Birch, Nora P O'Neill, Daniel J Hedequist,

OBJECTIVE:Halo-gravity traction (HGT) is an effective and safe method for gradual correction of severe cervical deformities in adults. However, the literature is limited on the use of HGT for cervical spine deformities that develop in children. The objective of the present study was to evaluate the safety and efficacy of ... Read more >>

J Neurosurg Pediatr (Journal of neurosurgery. Pediatrics)
[2019, :1-10]

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Extraforaminal Vertebral Artery Until C2 Transverse Foramen in Down Syndrome Patient Affected by Atlantoaxial Subluxation: First Observation and Review of Literature.

Cosimo Sturdà, Corlyze Steyn, Alessandro Olivi, Massimiliano Visocchi,

BACKGROUND:Patients with Down syndrome (DS) have an increased incidence of multisystem disorders, like cardiovascular, neurologic, gastrointestinal, respiratory, and musculoskeletal disorders. Craniovertebral junction instability is a common illness in DS patients, and they may often be affected by vertebral artery (VA) anomalies. CASE DESCRIPTION:In this paper we present neuroradiologic findings of ... Read more >>

World Neurosurg (World neurosurgery)
[2019, 131:230-233]

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Assessment of craniocervical motion in Down syndrome: a pilot study of two measurement techniques.

Jonathan E Martin, Brandon G Rocque, Andrew Jea, Richard C E Anderson, Joshua Pahys, Douglas Brockmeyer,

OBJECTIVE:Hypermobility of the craniocervical junction (CCJ) in patients with Down syndrome (DS) is common. Whereas atlantoaxial (C1-2) hypermobility is well characterized, occipitoatlantal (Oc-C1) laxity is recognized but poorly defined. A clear understanding of the risks associated with DS-related hypermobility is lacking. Research efforts to address the topic of axial cervical ... Read more >>

J Neurosurg Pediatr (Journal of neurosurgery. Pediatrics)
[2019, :1-7]

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Complex Chiari Malformation Presenting with Bulbar Symptoms in an Adult: Single-stage Posterior Fusion and Foramen Magnum Decompression: A Rare Case Report.

Sneha Chitra Balasubramanian, Navas Nazumudeen Saphiya, Abu Madan, Shobha Sara Mathews, Ajith Rajappan Nair,

Complex Chiari malformation (CCM) is a spectrum of congenital bony and soft tissue abnormalities, which includes Chiari 1.5 malformation, medullary kinking, retroflexed odontoid, abnormal clival-cervical angle (CXA), occipitalization of the atlas, basilar invagination, syringomyelia, and scoliosis. CCM usually manifests in the pediatric age group and is a challenging entity to ... Read more >>

Asian J Neurosurg (Asian journal of neurosurgery)
[2020, 15(1):132-135]

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C1 Stenosis - An Easily Missed Cause for Cervical Myelopathy.

Andrei Fernandes Joaquim, Griffin Baum, Lee A Tan, K Daniel Riew,

C1 stenosis is often an easily missed cause for cervical myelopathy. The vast majority of cervical myelopathy occurs in the subaxial cervical spine. The cervical canal is generally largest at C1/2, explaining the relatively rare incidence of neurological deficits in patients with odontoid fractures. However, some subjects have anatomical anomalies ... Read more >>

Neurospine (Neurospine)
[2019, 16(3):456-461]

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Anterior decompression through transoral axis slide and rotation osteotomy for salvage of failed posterior occipitocervical fusion: a novel technique note.

Aimin Wu, Haiming Jin, Haicheng Dou, Xiangxiang Pan, Sunren Sheng, Chongan Huang, Xiangyang Wang,

Atlantoaxial dislocation could be caused by odontoid fractures or Os odontoideum. The previous surgical techniques in treatment of atlantoaxial dislocation were based on arch remove decompression or anterior atlantoaxial release and atlantoaxial (occipital-cervical) screw fixation-based reduction and fusion. However, for some clinical situations, all of above techniques cannot be applied. ... Read more >>

Ann Transl Med (Annals of translational medicine)
[2020, 8(4):129]

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Occipitocervical or C1-C2 fusion using allograft bone in pediatric patients with Down syndrome 8 years of age or younger.

Kei Ando, Kazuyoshi Kobayashi, Kenyu Ito, Mikito Tsushima, Masayoshi Morozumi, Satoshi Tanaka, Masaaki Machino, Kyotaro Ota, Naoki Ishiguro, Shiro Imagama,

Sufficient internal fixation for occipitocervical (OC) or C1-C2 instability in pediatric patients with Down syndrome is difficult owing to small osseous structures, congenital deformities, and immature ossification. The purpose of this study was to evaluate the clinical outcomes of patients aged 8 years or younger with Down syndrome who underwent ... Read more >>

J Pediatr Orthop B (Journal of pediatric orthopedics. Part B)
[2019, 28(4):405-410]

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Surgical, clinical, and radiological outcomes of occipitocervical fusion using the plate-screw-rod system with allograft in craniocervical instability.

Mihir Upadhyaya, Sanyam Jain, Neilakuo Kire, Zahir Merchant, Vishal Kundnani, Ankit Patel,

Objective:We evaluated surgical, clinical, and radiological outcomes of posterior occipitocervical fusion (OCF) using plate-rod-screw construct supplemented with allograft in cases of occipitocervical instability. Study Design:This was a retrospective analysis of prospective collected data. Methods:Data of 52 patients who underwent posterior OCF using plate-screw-rod construct supplemented with allograft at a single ... Read more >>

J Craniovertebr Junction Spine (Journal of craniovertebral junction & spine)
[2019, 10(4):216-223]

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Bilateral Synovial Cysts as a Rare Cause of Myelopathy in a 38-year-old Woman.

Martina L Mustroph, Christian D Cerecedo-Lopez, Michael Groff, Hasan A Zaidi,

Synovial cysts are rare, and they occur even more rarely bilaterally or in the cervical spine. A 38-year-old previously healthy female presented with acute onset of numbness and tingling down her arms and weakness in her legs, which progressed steadily over 2-3 weeks to include significant gait disturbance. She denied bowel ... Read more >>

Cureus (Cureus)
[2019, 11(8):e5377]

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Torticollis and rotatory atlantoaxial dislocation: A clinical review.

Atul Goel,

Rotatory atlantoaxial instability can manifest as an acute episode following subtle or minor injury or even following a gentle tap on head in young children and can manifest as a painless deformity of the head. Goel technique of direct surgical opening of the atlantoaxial facet joint, manual manipulation of the ... Read more >>

J Craniovertebr Junction Spine (Journal of craniovertebral junction & spine)
[2019, 10(2):77-87]

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Cervical vertebral malformations in 9 dogs: radiological findings, treatment options and outcomes.

Ricardo Fernandes, Noel Fitzpatrick, Clare Rusbridge, Jeremy Rose, Colin J Driver,

Background:Disregarding atlantoaxial instability in toy breed dogs associated with dens malformation and cervical spondylomyelopathy; cervical vertebral malformations are rare and poorly characterised in veterinary medicine and consequently treatment strategies and clinical outcome are sparsely documented. Results:Electronic clinical records at our veterinary referral hospital between April 2009 and November 2018 were ... Read more >>

Ir Vet J (Irish veterinary journal)
[2019, 72:2]

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Outcomes of Surgical Correction of Atlantoaxial Instability in Patients with Down Syndrome: Systematic Review and Meta-Analysis.

Ryan C Hofler, Nathan Pecoraro, G Alexander Jones,

BACKGROUND:Atlantoaxial instability (AAI) is a common cause of neurologic dysfunction and pain in patients with Down syndrome (DS), frequently requiring instrumented fusion of the upper cervical spine. Despite this, optimal treatment strategy is controversial. METHODS:A systematic review of the literature was performed according to the Preferred Reporting Items for Systemic ... Read more >>

World Neurosurg (World neurosurgery)
[2019, 126:e125-e135]

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A 360-Degree Surgical Approach for Correction of Cervical Kyphosis and Atlantoaxial Dislocation in the Case of Larsen Syndrome.

Harsh Deora, Suyash Singh, Jayesh Sardhara, Sanjay Behari,

Larsen syndrome is chronic debilitating disease that presents with multiple joint dislocations and severely affects the cervical spine in the form of cervical kyphosis and atlantoaxial dislocation. Children usually present in early with a myriad of deficits, compressive myelopathy being the most common. In addition to a bony compression, there ... Read more >>

J Neurosci Rural Pract (Journal of neurosciences in rural practice)
[2020, 11(1):196-201]

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Spontaneous atlanto-axial dislocation and trisomy 21: causal factors and management.

Fah Bouaré, Mohamed Lmejjati, Davis Mpando,

Spontaneous atlanto-axial (C1-C2) dislocation is an atlanto-axial instability, found in 10 to 30% of trisomy 21 patients, the majority of whom is asymptomatic. We report a case of a 21 years-old woman, with trisomy 21, admitted in our department presenting a spinal cord compression syndrome with right hemiparesis associated with ... Read more >>

Pan Afr Med J (The Pan African medical journal)
[2019, 33:3]

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Dynamic MRI in the Evaluation of Atlantoaxial Stability in Pediatric Down Syndrome Patients.

Albert Tu, Edward Melamed, Mark D Krieger,

BACKGROUND/AIMS:Down syndrome is the most common inherited disorder. Some patients develop atlantoaxial instability. Existing screening guidelines were developed prior to availability of MRI. We present predictors for deficit using dynamic MRI of the craniocervical junction. METHODS:A retrospective review of Down syndrome patients from 2001 to 2015 was carried out. Patients ... Read more >>

Pediatr Neurosurg (Pediatric neurosurgery)
[2019, 54(1):12-20]

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A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.

Akari Nakamura-Utsunomiya, Toshio Nakamae, Reiko Kagawa, Shuhei Karakawa, Sonoko Sakata, Fumiaki Sakura, Chihiro Tani, Yoshiko Matsubara, Takashi Ishino, Go Tajima, Satoshi Okada,

BACKGROUND:Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the GALNS gene. This disorder results in marked abnormalities in bones and connective tissues, and affects multiple organs. Here, we describe the clinical course of ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(3):]

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Problems in Instrumentation of Syndromic Craniovertebral Junction Anomalies - Case Reports.

Natarajan Muthukumar,

The aim of this study is to highlight the complications of instrumentation in the setting of syndromic craniovertebral junction (CVJ) anomalies. The records of patients with syndromic CVJ anomalies treated by this author during the period of 2012-2017 were retrospectively reviewed. Patients in whom intraoperative difficulties and complications were encountered ... Read more >>

Neurospine (Neurospine)
[2019, 16(2):277-285]

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Rotational vertebral artery syndrome treated via an anterior approach and selective decompression only.

Jung Hoon Kang, Soo Bin Im, Je Hoon Jeong, Dong-Seong Shin,

We present the case of a 38-year-old male who complained of repeated dizziness and syncope. Rotational vertebral artery syndrome (RVAS) was diagnosed via videonystagmoraphy (VNG), computed tomography angiography (CTA) and three-position digital subtraction angiography (DSA). In the neutral position, CTA and DSA revealed left vertebral artery (VA) stenosis at the ... Read more >>

J Cerebrovasc Endovasc Neurosurg (Journal of cerebrovascular and endovascular neurosurgery)
[2019, 21(3):158-162]

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Independent Correlation of the C1-2 Cobb Angle With Patient-Reported Outcomes After Correcting Chronic Atlantoaxial Instability.

Zhimin Pan, Yanhai Xi, Wei Huang, Keung Nyun Kim, Seong Yi, Dong Ah Shin, Kai Huang, Yu Chen, Zhongren Huang, Da He, Yoon Ha,

OBJECTIVE:To investigate three-planar radiographic results and patient-reported outcomes (PROs) after correcting chronic atlantoaxial instability (AAI) by translaminar screw (TLS) and pedicle screw (PS) fixation, and to explore the potential association of atlantoaxial realignment with PRO improvements. METHODS:Twenty-three patients who underwent C1 lateral mass screw (LMS)-C2 TLS and 29 who underwent ... Read more >>

Neurospine (Neurospine)
[2019, 16(2):267-276]

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Atlantoaxial instability management in down syndrome.

Alfio Spina, Aleandro Rocca, Nicola Boari, Filippo Gagliardi, Michele Bailo, Pietro Mortini,

J Neurosurg Sci (Journal of neurosurgical sciences)
[2020, 64(2):230-231]

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The Craniovertebral Junction in Rheumatoid Arthritis: State of the Art.

Angelo Ferrante, Francesco Ciccia, Giuseppe Roberto Giammalva, Domenico Gerardo Iacopino, Massimiliano Visocchi, Federica Macaluso, Rosario Maugeri,

Rheumatoid arthritis (RA) is a chronic inflammatory disorder, characterized by polyarticular inflammation causing progressive joint damage and disability. The mechanisms underlying its pathogenesis involve activation of innate and adaptive immunity, microvascular endothelial cell activation, and inflammatory infiltration of lymphocytes and monocytes into the synovium. Spinal involvement in RA is not ... Read more >>

Acta Neurochir. Suppl. (Acta neurochirurgica. Supplement)
[2019, 125:79-86]

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Anterior atlantoaxial subluxation with Down syndrome and arthritis: case report.

Carlos Andres Ferreira Prada, Maria Gabriela Sanchez Paez, Andreina Martinez Amado,

Down syndrome (DS) occurs when an individual has a full or partial extra copy of chromosome 21 and is the most common of all malformation syndromes. Associating with numerous pathologies like anterior atlantoaxial subluxation (AAAS) which is an increase in the space between the anterior arch of the first cervical ... Read more >>

J Spine Surg (Journal of spine surgery (Hong Kong))
[2018, 4(4):803-809]

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