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Frontiers in Genetics 2018Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy. Approximately 30-40%...
Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy. Approximately 30-40% of patients have other associated congenital anomalies; in particular, facial anomalies, such as cleft palate, are part of about 10% of the DBA clinical presentations. Pierre Robin sequence (PRS) is a heterogeneous condition, defined by the presence of the triad of glossoptosis, micrognathia and cleft palate; it occurs in 1/8500 to 1/14,000 births. Klippel Feil (KF) syndrome is a complex of both osseous and visceral anomalies, characterized mainly by congenital development defects of the cervical spine. We describe the case of a 22-years-old woman affected by DBA, carrying a deletion about 500 Kb-long at 12q13.2-q13.3 that included and, at least, others 25 flanking genes. The patient showed craniofacial anomalies due to PRS and suffered for KF deformities (type II). Computed Tomography study of cranio-cervical junction (CCJ) drew out severe bone malformations and congenital anomalies as atlanto-occipital assimilation (AOA), arcuate foramen and occipito-condylar hyperplasia. Foramen magnum was severely reduced. Atlanto-axial instability (AAI) was linked to atlanto-occipital assimilation, congenital vertebral fusion and occipito-condyle bone hyperplasia. Basilar invagination and platybasia were ruled out on CT and Magnetic Resonance Imaging (MRI) studies. Furthermore, the temporal Bone CT study showed anomalies of external auditory canals, absent mastoid pneumatization, chronic middle ear otitis and abnormal course of the facial nerve bones canal. The described phenotype might be related to the peculiar deletion affecting the patient, highlighting that genes involved in the in the breakdown of extracellular matrix (), in cell cycle regulation (, vesicular trafficking (, in ribonucleoprotein complexes formation () and muscles function ( and ) could be potentially related to bone-developmental disorders. Moreover, it points out that multiple associated ribosomal deficits might play a role in DBA-related phenotypes, considering the simultaneous deletion of three of them in the index case ( and , and it confirms the association among functional disruption and severe myopia. This report highlights the need for a careful genetic evaluation and a detailed phenotype-genotype correlation in each complex malformative syndrome.
PubMed: 30524470
DOI: 10.3389/fgene.2018.00549 -
Neurology India 2018
Topics: Arnold-Chiari Malformation; Atlanto-Axial Joint; Decompression, Surgical; Humans; Joint Instability; Platybasia; Syringomyelia
PubMed: 30038072
DOI: 10.4103/0028-3886.236992 -
BMC Musculoskeletal Disorders Jan 2016Neck pain is one of the most common musculoskeletal disorders in clinical practice. However neck pain may mask more serious pathology. Although uncommon in most...
BACKGROUND
Neck pain is one of the most common musculoskeletal disorders in clinical practice. However neck pain may mask more serious pathology. Although uncommon in most musculoskeletal physiotherapy practices, it is possible to encounter rare and extremely life-threatening conditions, such as craniovertebral congenital anomalies. Basilar invagination is an abnormality where the odontoid peg projects above the foramen magnum and is the commonest malformation of the craniocervical junction. Its prevalence in the general population is estimated to be 1%. Furthermore, it is a well-recognised cause of neck pain insomuch as it can be easily overlooked and mistaken for a musculoskeletal disorder. Diagnosis is based on the patient's symptoms in conjunction with magnetic resonance imaging (MRI). If life-threatening symptoms, or pressure on the spinal cord are present, the recommended treatment is typically surgical correction.
CASE PRESENTATION
This case report describes the history, relevant examination findings, and clinical reasoning used for a 37 year old male who had the chief complaint of neck pain and occipital headache. After the history and the physical examination, there were several key indicators in the patient's presentation that appeared to warrant further investigation with diagnostic imaging: (1) the drop attack after a triggering event (i.e., heading a football), (2) several episodes of facial numbness immediately and shortly after the trauma, (3) the poorly defined muscle upper extremity muscle weakness, and (4) the modification of symptoms during the modified Sharp-Purser test. Therefore, the decision was made to contact the referring neurosurgeon to discuss the patient's history and his physical examination. The physician requested immediate cervical spine MRI, which revealed a "basilar impression".
CONCLUSION
This case report highlights the need for more research into a number of issues surrounding the prevalence, diagnosis, and the central role of primary care clinicians such as physiotherapists. Furthermore it underlines the importance of including Basilar invagination in the differential diagnosis. Physiotherapists working within a direct access environment must take a comprehensive history and be capable of screening for non-musculoskeletal medical conditions (on a systems, not diagnosis level) in order to avoid providing potentially harmful musculoskeletal treatments (e.g., cervical mobilization or manipulation, stretching, exercise) to patients with sinister medical pathologies, not benign musculoskeletal disorders.
Topics: Adult; Diagnosis, Differential; Humans; Male; Neck Pain; Platybasia; Radiography
PubMed: 26754441
DOI: 10.1186/s12891-015-0847-0 -
Medicine Apr 2018Rod breakage after occipitocervical fusion (OCF) has never been described in a patient who has undergone surgery for basilar invagination (BI) and atlantoaxial...
RATIONALE
Rod breakage after occipitocervical fusion (OCF) has never been described in a patient who has undergone surgery for basilar invagination (BI) and atlantoaxial dislocation (AAD). Here, we present an unusual but significant case of revision surgery to correct this complication.
PATIENT CONCERNS
A 32-year-old female presented with neck pain, unstable leg motion in walking, and also BI with AAD. Her first surgery was planned to correct these conditions and for fusion at the occipital junction (C3-4) using a screw-rod system. At the 31-month follow-up after her first operation, the patient complained of severe neck pain and limitation of motion, suggesting rod breakage.
DIAGNOSES
Rod breakage after occipitocervical fusion for BI and AAD.
INTERVENTIONS
The patient underwent reoperation for replacement of the broken rods, adjustment of the occipitocervical angle, maintenance of the bone graft bed, and fusion.
OUTCOMES
At follow-up, the hardware was found to be in good condition, with no significant loss of cervical lordosis. At the 37-month follow-up after her second operation, the patient was doing better and continuing to recover.
LESSONS
We concluded that nonideal choice of occipitocervical angle may play an important role in rod breakage; however, an inadequate bone graft and poor postoperative fusion may also contribute to implant failure.
Topics: Adult; Atlanto-Axial Joint; Bone Transplantation; Cervical Vertebrae; Equipment Failure; Female; Follow-Up Studies; Humans; Imaging, Three-Dimensional; Joint Dislocations; Kyphosis; Occipital Bone; Odontoid Process; Platybasia; Postoperative Complications; Reoperation; Spinal Fusion; Tomography, X-Ray Computed
PubMed: 29642217
DOI: 10.1097/MD.0000000000010441 -
Acta Neurochirurgica Nov 2020
Topics: Arnold-Chiari Malformation; Humans; Joint Instability; Platybasia
PubMed: 32895771
DOI: 10.1007/s00701-020-04557-6 -
Neurology India 2021Vertebral artery (VA) may run an anomalous course in congenital craniovertebral junction anomalies. Anomalous VA, though rare, is challenging to handle. An anomalous VA...
INTRODUCTION
Vertebral artery (VA) may run an anomalous course in congenital craniovertebral junction anomalies. Anomalous VA, though rare, is challenging to handle. An anomalous VA can get injured during exposure of craniovertebral junction, even in the experienced hands.
OBJECTIVE
The objective of this article was to describe the technique of repairing the VA in case of its damage during exposure in the craniovertebral junction (atlantoaxial dislocation [AAD] with basilar invagination [BI]).
PROCEDURE
The authors describe a case of VA artery injury in a case of severe BI & AAD, which was anomalous and coursing over the joints. Following the repair of injured VA, we proceeded with the surgery (distraction, compression, extension, and reduction [DCER]).
CONCLUSION
To avoid injury, it is important to always perform a CT 3-D angiogram, perform meticulous dissection under the microscope while exposing the joints, use variable impedance bipolar to control venous bleeding and always expose the side with non-dominant VA first.
Topics: Atlanto-Axial Joint; Cervical Vertebrae; Humans; Joint Dislocations; Platybasia; Spinal Fusion; Vertebral Artery
PubMed: 33904442
DOI: 10.4103/0028-3886.314543 -
Surgical Neurology International 2015Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to...
BACKGROUND
Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to differentiate between these types of CVJM is desirable. The Chamberlain's line violation (CLV) is the most common method to identify BI. The authors sought to clarify the real importance of CLV in the spectrum of craniovertebral junction malformations (CVJM) and to identify possible pathophysiological relationships.
METHODS
We evaluated the CLV in a sample of CVJM, BI, CM patients and a control group of normal subjects and correlated their data with craniocervical angular craniometry.
RESULTS
A total of 97 subjects were studied: 32 normal subjects, 41 CM patients, 9 basilar invagination type 1 (BI1) patients, and 15 basilar invagination type 2 (BI2) patients. The mean CLV violation in the groups were: The control group, 0.16 ± 0.45 cm; the CM group, 0.32 ± 0.48 cm; the BI1 group, 1.35 ± 0.5 cm; and the BI2 group, 1.98 ± 0.18 cm. There was strong correlation between CLV and Boogard's angle (R = 0.82, P = 0.000) and the clivus canal angle (R = 0.7, P = 0.000).
CONCLUSIONS
CM's CLV is discrete and similar to the normal subjects. BI1 and BI2 presented with at least of 0.95 cm CLV and these violations were strongly correlated with a primary cranial angulation (clivus horizontalization) and an acute clivus canal angle (a secondary craniocervical angle).
PubMed: 26229733
DOI: 10.4103/2152-7806.160322 -
Arquivos de Neuro-psiquiatria Sep 2014A retrospective case-control study based on craniometrical evaluation was performed to evaluate the incidence of basilar invagination (BI). Patients with symptomatic...
A retrospective case-control study based on craniometrical evaluation was performed to evaluate the incidence of basilar invagination (BI). Patients with symptomatic tonsillar herniation treated surgically had craniometrical parameters evaluated based on CT scan reconstructions before surgery. BI was diagnosed when the tip of the odontoid trespassed the Chamberlain's line in three different thresholds found in the literature: 2, 5 or 6.6 mm. In the surgical group (SU), the mean distance of the tip of the odontoid process above the Chamberlain's line was 12 mm versus 1.2 mm in the control (CO) group (p<0.0001). The number of patients with BI according to the threshold used (2, 5 or 6.6 mm) in the SU group was respectively 19 (95%), 16 (80%) and 15 (75%) and in the CO group it was 15 (37%), 4 (10%) and 2 (5%).
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Case-Control Studies; Cephalometry; Encephalocele; Female; Humans; Male; Middle Aged; Occipital Bone; Odontoid Process; Platybasia; Reference Values; Retrospective Studies; Skull Base; Tomography, X-Ray Computed; Young Adult
PubMed: 25252235
DOI: 10.1590/0004-282x20140113 -
Surgical Neurology International 2020Atlanto-occipital dislocation (AOD) is a rare, highly morbid, and highly lethal injury that results from high-energy trauma and almost universally requires operative...
Successful non-operative management for atlanto-occipital dislocation resulting in spinal cord contusion in a patient with atlanto-occipital assimilation and severe Chiari I malformation.
BACKGROUND
Atlanto-occipital dislocation (AOD) is a rare, highly morbid, and highly lethal injury that results from high-energy trauma and almost universally requires operative management for satisfactory outcomes. It can be difficult to identify the severity of injury at the time of presentation, and when diagnosis is delayed outcomes worsen significantly. Anatomic anomalies of the craniovertebral junction may further complicate its detection. When such anomalies are present either singly or in combination, they are known to cause space constraints which may increase the likelihood of spinal cord injury. Given that such anomalies and AOD are rare, few examples of patients with both are reported in the literature. Furthermore, it is not clear in what way patient management may be impacted in this context.
CASE DESCRIPTION
We will present a unique case of an 18-year-old patient with traumatic AOD and an intact neurologic examination who was found to have atlanto-occipital assimilation (AOA), platybasia, basilar invagination, and severe Chiari I malformation, who was treated effectively with non-operative management.
CONCLUSION
Our case demonstrates the successful application of a non-operative treatment strategy in a carefully selected patient with AOD in the context of AOA.
PubMed: 33194272
DOI: 10.25259/SNI_419_2020 -
Cureus Mar 2024A Chiari I malformation is a frequently encountered anomaly of the posterior fossa, occurring in a notable percentage of the population. It often coexists with various...
Revealing an Uncommon Presentation of Chiari I Malformation With Diverse Craniovertebral Anomalies in the Absence of Syringomyelia and Atlanto-Occipital Subluxation: A Case Report.
A Chiari I malformation is a frequently encountered anomaly of the posterior fossa, occurring in a notable percentage of the population. It often coexists with various other craniovertebral junction abnormalities, albeit less frequently with Klippel-Feil syndrome. Interestingly, the majority of individuals with Chiari I malformation do not exhibit any symptoms. We present a rare case of a 25-year-old male with chronic neck and occipital pain, along with progressive weakness and sensory disturbances in all four limbs, urinary urgency, and elevated left shoulder. Examination unveiled spasticity, weakness, and brisk reflexes. On extensive radiological evaluation (X-ray, CT, and MRI), findings revealed various anomalies in the craniovertebral junction, including complete atlanto-occipital assimilation, basilar invagination, and platybasia. Furthermore, cervical segmentation abnormalities indicative of Klippel-Feil syndrome were observed, along with Sprengel's deformity. MRI confirmed Chiari I malformation with tonsillar herniation and myelomalacia, as well as compression at the cervico-medullary junction. This patient underwent a surgical procedure that included transoral odontoidectomy combined with occipito-cervical fixation, after which a good clinical response was observed. It emphasizes the necessity of radiological imaging for the diagnosis of Chiari and other associated abnormalities in the craniovertebral junction.
PubMed: 38559543
DOI: 10.7759/cureus.55332