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The left sketch depicts the physiological anatomy of the craniocervical junction in the sagittal plane. In the right sketch, the congenital malformation is shown with its AAD. The occipital bone slips closer to the odontoid process due to the hypogenetic posterior arch of the atlas. Furthermore, the odontoid process appears more cranial, indicating the basilar invagination. In conjunction with this scenario, the vertebral canal is narrower in its diameter than is physiologically normal, and becomes even narrower when the neck is flexed. 1a = C1 anterior arch, 1b = C1 posterior arch, 2a = odontoid process, 2b = C2 Processus spinosus, 3a = Os occipitate, Pars basilaris, 3b = Os occipitale, occiput.
Source publication
Instabilities of the craniocervical junction can be of rheumatic, traumatic, or congenital origin. The reported patient has a congenital malformation of the cervical spine, which is frequently observed in patients with Klippel–Feil syndrome. Her posterior arch of the atlas (C1) is hypoplastic and a chronic subluxation of the atlanto-axial joint wou...
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Abstract Background Surgical treatment is mainly used for atlantoaxial tuberculosis with neurological damage. However, the anatomic structure around the atlantoaxial joint is complex, and the position of vertebral body is deep, which increases the difficulty of the operation and it is challenging for the surgeon to develop surgical strategy. The pu...
Citations
... Al nacimiento se pueden apreciar características fenotípicas que lo distinguen, donde las dismorfias faciales, asociadas a un cuello pequeño, con limitación de la movilidad cervical son signos clínicos que permiten sospechar la presencia de la enfermedad. (1,2,3) Ahora bien, en 1919, André Feil propuso por primera vez una clasificación para este síndrome, donde quedaron incluidas las malformaciones de la columna cervical, torácica y lumbar. En el 2006, un grupo de investigadores propuso otra clasificación, que incluía las anomalías de la columna cervical y sus síntomas; además, plantearon las siguientes formas clínicas: tipo I (incluye la fusión masiva de vértebras cervicales con afectación de vértebras torácicas, hasta las superiores dorsales), tipo II (unión de uno o 2 espacios vertebrales, generalmente acompañadas de fusión occípitoatlantoidea y de hemivértebras, es la más común, pero tiene mínimas manifestaciones clínicas), tipo III (la fusión cervical se asocia a un trastorno similar a nivel dorsal o lumbar) y tipo IV (fusión cervical, torácica superior y dorsal inferior o lumbar). ...
... (1,2) Aunque se desconocen las causas de este síndrome malformativo, investigaciones realizadas (2,4,6) relacionan factores genéticos y ambientales, que pudieran ocasionar alteraciones en el desarrollo embrionario entre las 3 y 8 semanas de gestación, etapa crítica en la segmentación de las somitas que originan los cuerpos vertebrales. (4) Se exponen diferentes criterios, entre ellos el que plantea un cambio en la migración del tejido mesodérmico en el momento de la formación de los discos cervicales, entre las semanas tercera y cuarta del desarrollo embrionario, lo cual pudiera producir el Asimismo, se ha descrito la teoría de obstrucción vascular, donde hay secuencia de interrupción a nivel de la arteria subclavia, (3,5) esta es la posible causa que pudo ocasionar el síndrome de Klippel-Feil en el caso que se describe. ...
The case report of an 11 months infant is presented, who was referred to the Clinical Genetics Service of the Medical Genetics Provincial Center in Holguín province, due to facial dysmorphias associated with motor retardation, short neck and decreasing movements. Interrogation, exhaustive physical exam and radiological studies of cervical column were carried out that showed the fusion of cervical vertebras, which allowed to diagnose the Klippel-Feil syndrome. A qualification with exercises was projected to strengthen the paravertebral muscles and genetic advice to the family was provided.
Background:
Developmental atlantal stenosis with myelopathy (DASM) in adults is a rare disease that only sporadic cases have been reported over the years. C1 laminectomy (C1L) is one of the most common operations for its treatment. However, as an open surgery, it has shortcomings such as large trauma and slow postoperative rehabilitation, and minimally invasive spine surgery (MISS) offers alternative treatment options with advantages. MISS instruments expand the technical capabilities of surgeons, which allows safer and more effective therapeutics for difficult and complicated diseases. This case report presents a new minimally invasive approach; percutaneous full endoscopic C1 laminectomy (PFEC1L), for the treatment of DASM, and to consolidate the current literature on the condition to summarize its etiologies, clinical manifestations, diagnostic criteria, surgical management, and prognoses.
Case description:
The patient in Case 1 presented with neck pain and numbness and weakness in the limbs. The patient in Case 2 presented with numbness in the extremities and the patient in Case 3 presented with bilateral hand numbness and left lower limb weakness. They were all diagnosed with DASM and underwent PFEC1L treatment to maintain the enlargement and decompression of the atlantal canal, which achieved favorable outcomes without complications during the postoperative follow-up visit.
Conclusions:
DASM is rare but potentially dangerous. Its diagnosis is made based on clinical manifestations combined with radiological imaging examinations, especially computed tomography (CT) scan and magnetic resonance imaging (MRI). While C1L is the most common surgical method, PFEC1L is a new feasible and safe therapeutic option with comparable good outcomes and the advantage of being minimally-invasive. To our knowledge this is the first report that PFEC1L was applied for DASM treatment.
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Klippel-Feil syndrome (KFS) is a rare multisystem constellation of findings with congenital cervical fusion as the hallmark. The etiology is not fully understood.
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Recent studies have indicated that KFS is more prevalent than previously described.
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Hypermobility in the nonfused segments may lead to adjacent segment disease and potential disc herniation and myelopathy after minor trauma.
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Most patients with KFS are asymptomatic and can be managed nonoperatively. Surgical treatment is reserved for patients presenting with pain refractory to medical management, instability, myelopathy or radiculopathy, or severe adjacent segment disease.
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Patients with craniocervical abnormalities and upper cervical instability should avoid contact sports as they are at increased risk for spinal cord injury after minor trauma.
