patient with arthrogryposis multiplex congenita affecting all. 4 extremities, who Accepted Jun 1, ; Epub ahead of print XXX?, Download PDF As scoliosis in arthrogryposis multiplex congenita (AMC) is unusual and the number of cases reviewed in previous studies is. Six cases (3 males, 3 females; mean age at surgery years) with arthrogryposis multiplex congenita associated with the characteristic.
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Prenatal Sonographic Detection of Multiple Congenital Anomalies: A Case of epub for Prenatal Sonographic Detection of Multiple Congenital Anomalies: Article Information, PDF download for Prenatal Sonographic Detection of Multiple Arthrogryposis multiplex congenita (AMC) is a syndrome that is. Epub Oct 9. OBJECTIVE: Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of newborns. congenita (AMC) is a descriptor for the clinical finding of congenital fixation of multiple joints. We present a consanguineo 6MB Sizes 0 Downloads 18 Views.
One of the typical examples of such pathology is arthrogryposis multiplex congenita AMC. Arthrogryposis is one of the most serious congenital malformations of the musculoskeletal system. It is characterized by the presence of two or more major joint contractures, muscle damage, and motoneuronal dysfunction in the anterior horns of the spinal cord. One of the main problems that determines the limitation or even impossibility of self-care of patients suffering from arthrogryposis is the lack of active movements in the upper limb joints, which can be restored by autotransplantation of the muscles of various donor areas Hall, ; Bamshad et al. A major limiting factor for the adequate self-care in patients with this pathology is a lack of the active elbow flexion due to the fibro-fatty degeneration of the flexors of the forearm. Such deficits significantly affect the quality of life because many vital functions are associated with the elbow movements, for example, bringing food to the mouth. Thus, for these patients it is important to secure functional recovery of the biceps brachii muscle, which is performed by non-free with preservation of the vascular-muscular bundle autotransplantation of the muscles surrounding the shoulder joint commonly by the pectoralis major or the latissimus dorsi muscles Oishi et al.
Since arthrogryposis includes many different types, the treatment varies between patients depending on the symptoms.
These surgeries are explained below. Passive enhancement[ edit ] There are a number of passive devices for enhancing limb movement, intended to be worn to aid movement and encourage muscular development.
For example, the Wilmington Robotic Exoskeleton is a potential assistive device built on a back brace, shadowing the upper arm and forearm. It can be difficult to fit and heavy and awkward to wear. The garment looks like normal clothing but contains bundled steel wires under the arms, which help to push the arms toward a lifted position while allowing the wearer to move freely from that position.
On the dorsal side, at the level of the mid carpus , a wedge osteotomy is made. Sufficient bone is resected to at least be able to put the wrist in a neutral position. If the wrist is also ulnarly deviated, more bone can be taken from the radial side to correct this abnormality. This position is held into place with two cross K-wires.
In addition, a tendon transfer of the extensor carpi ulnaris to the extensor carpi radialis brevis may be performed to correct ulnar deviation or wrist extension weakness, or both. This tendon transfer is only used if the extensor carpi ulnaris appears to be functional enough.
There is often an appearance of increased skin at the base of the index finger that is part of the deformity. This tissue can be used to resurface the thumb-index web after a comprehensive release of all the tight structures to allow for a larger range of motion of the thumb. Foot deformities, such as cavovarus, can indicate the presence of an underlying neural axis abnormality.
The presence of asymmetric abdominal reflexes should prompt the clinician to consider a magnetic resonance imaging MRI scan to rule out a syringomyelia. Other red flags include severe pain night pain , untoward stiffness, deviation to one side during the forward bend test known a list , sudden rapid progression in a previously stable curve, extensive progression in a patient after skeletal maturity and abnormal neurologic findings.
The most typical presentation of AIS is a right-sided thoracic curve in a female patient, which is pain less, without any abnormal neurological findings. Curves that are greater than 90 degrees are rare, but associated with pain and decreased self-image [ 21 ].
A standardized lateral radiograph to appreciate any sagittal abnormality Fig. Obtain bending films to assess the flexibility of the curve Fig. The Cobb method of measuring the degree of scoliosis. Choose the most tilted vertebrae above and below the apex of the curve.
The angle between intersecting line drawn perpendicular to the superior endplate of the top vertebrae and the inferior endplate of the bottom verterbrae is the Cobb angle.
Bending radiographs performed here to assess the stiffness of the curve. The degree of correction is a measure of curve flexibility. This assists in planning the level of surgery required and is predictive of correction possibile with surgery. It is usually indicated to exclude a Chiari I malformation, a syrinx, tumour, neurofibromatosis, and cord tethering. MRI scan is mandatory in patients who present with a very rapid curve progression, back pain, neurologic deficiency, neck stiffness, and severe unexplained headaches.
Similarly when clinical findings such as ataxia or cavus feet are present, these patients should also be considered for MRI scan. Pulmonary function test can be considered in large curves [ 22 ]. It adds extra detail on the curvature and anatomy of the scoliosis, which subsequently helps with classification, pre-op planning and monitoring progression [ 22 ]. The selection of the best treatment is based on the maturity of the patient age, menarchal status, Risser grading of Iliac apophysis , location, severity and risk of progression of the curvature [ 23 ].
A common protocol used to guide treatment is: to observe patients with curves of less than 25 degrees, to brace patients between degrees, and to consider surgery on patients with curves of greater than 45 degrees [ 23 ]. Observation When the curvature is less than 25 degrees, patient can be observed on a 6 to 12 monthly basis with clinical and radiological follow up.
These patients are provided with appropriate information and directed to the Scoliosis Research Society website [ 24 ]. When discussing surgery with patients, the natural history of AIS needs to be taken into account. A recent literature review looked at studies concerning long-term outcome in patients with AIS that had received no treatment [ 25 ]. It concluded that most individuals with AIS and moderate curve size around maturity function well and lead an acceptable life in terms of work and family.
Some patients with larger curves greater than have pulmonary problems, but this does not result in increased mortality [ 25 ]. Bracing For curves between 25 and 45 degrees below the level of T8 in general, and there is risk of curve progression.
Bracing should be considered, so that the curve does not progress with time. In past braces were uncomfortable and embarrassing. Now thoracolumbar braces come in a variety of shapes, size and padding Milwaukee brace, Boston brace and the Charleston brace.
A meta-analysis by Row et al. Although bracing has been shown to be effective, compliance is poor and it is associated with psychological stress [ 27 ]. It is important to counsel adolescents and their parents that bracing does not correct scoliosis but may prevent significant progression of the spinal curvature. Use of a brace is continued until the patient reaches Risser grade 4 or 5.
Although bracing is moderately successful, its efficacy is not fully proven due to lack of strong evidence [ 28 ]. Surgical Treatment Surgical treatment is indicated to halt curve progression especially curves beyond and improve cosmetic appearance. The main goal of surgery is to achieve correction of deformity including rotation, a fusion of the structural deformity of the spine, which will prevent further progression.
This subsequently aims to improve spinal alignment and balance. The selection of specific approach to surgery therefore depends on the curvature and location of the spinal curve.
A thoracic curve with minimal lumbar curve is treated with a posterior thoracic fusion using instrumentation See Fig.
There are several approaches that can be used for AIS surgery. Open Anterior surgery has the advantage of preventing crankshaft effect in skeletally immature patients. There is increased flexibility and allows for correction of very rigid curves.
It reduces the number of vertebrae needed for fusion hence preserves spinal mobility [ 29 ]. However, with anterior approach the impact of chest wall violation on pulmonary function is well documented [ 29 ]. Postoperative posterio-anterior and lateral radiographs demonstrating a satisfactory coronal plane correction compare to pre-operative radiographs in Fig.
However, it is associated with a high risk of instrument pull-out and pseudoarthrosis and pulmonary complications. Izatt et al. The patients reported good post-operative patient reported outcome scores [ 30 ]. Newton et al. However, they did report 3 patients with rod failure and 3 patients required a surgical revision with posterior spinal instrumentation and fusion [ 31 ].
Anterior release followed by posterior instrumented fusion allows better correction of severe AIS, but these patients still have the associated risks of anterior approach along with the morbidity of having to undergo 2 procedures.
The use of anterior only or combined anterior and posterior approaches for large thoracic curves has declined the last 10 years. The anterior approach led to postoperative complications especially diminished pulmonary function.
Since the advent of thoracic pedicle screw fixation, the posterior only approach is widely used and is associated with better correction rates and decreased complications [ 8 ].
Several studies have examined the efficacy of posterior-only fusion for the treatment of severe thoracic AIS. Luhmann and Lenke [ 29 ] compared combined treatment anterior and posterior fusion with posterior fusion only in severe AIS. They concluded that the patients treated with pedicle screw-only instrumentation presented similar results to those who underwent combined treatment A similar study by Dobbs et al.
The treatment of structural double curves i. Costoplasty may be employed to correct any residual rib humps. Postoperatively patients normally stay inpatient for up to 2 weeks requiring analgesia and physiotherapy. Surgical complications are minimised with modern instrumentations and by perioperative spinal cord monitoring [ 32 ].
With constant development in newer techniques and instrumentation, again there is lack of long-term results [ 32 ]. There are results from a twenty-one year follow up study of patients with Harringtion instrumentation and arthrodesis. Twenty-one years after the operation, the patients were functioning quite well compared with the control subjects [ 32 ].
A randomized controlled trial RCT is long overdue to see the unknown long-term effects of surgery. Due to the presence of evidence to support conservative treatments, a plan to compose a RCT for conservative treatment options seems unethical [ 33 ].
This condition results in higher incidence of back pain and discontent with body image. Curves greater than 50 degrees in thoracic region and greater than 30 degrees in lumbar region progress at a rate of 0. Curves greater than 60 degrees can lead to pulmonary functional deficit.