Neuropathic Joint Research Articles

A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V

A boy with recurrent pyrexial episodes from early life sustained a painless ankle injury and was found to have a calcaneus fracture and, later, neuropathic joint degeneration of the tarsus. Examination revealed distal loss of pain and temperature sensation and widespread anhidrosis. Sural nerve biopsy demonstrated severe reduction in small-caliber myelinated fiber density but only modest reduction in unmyelinated axons, the pattern of type V hereditary sensory and autonomic neuropathy (HSAN V). DNA analysis showed that he was homozygous for a mutation in the NTRK1/high-affinity nerve growth factor (TrkA) gene, his parents being heterozygous. Mutations in this gene are known to be responsible for HSAN IV (congenital insensitivity to pain with anhidrosis). The two disorders are therefore likely to be allelic.

Nonspinal Orthopaedic Problems in Familial Dysautonomia (Riley–Day Syndrome)

Familial dysautonomia (FD) is a rare autosomal recessive disease occurring in Ashkenazi Jews. It affects the autonomic, central, and peripheral nervous systems. The purpose of this study was to assess the prevalence and characteristics of orthopedic deformities, other than spinal deformities, in this population. A retrospective review of the medical records and radiographs of 182 patients was made. Three main groups of orthopaedic conditions were evaluated: (a) Fractures: 60% of the patients had one or more fractures; the average fracture rate was 1.4/patient. (b) Neuropathic joints: 11% of the cases had one or more neuropathic joints, the knee being the most common. (c) Other musculoskeletal deformities: 26% of the patients had one or more deformities. Lower extremity rotational problems and foot anomalies accounted for most of these deformities. Patients with FD have a higher prevalence of fractures and neuropathic joints than do their peers. The fracture pattern also is different, with a higher incidence of proximal femoral fractures.

THE DIABETIC FOOT

Foot complications in diabetics often lead to amputation. Ulceration is the most common complication in the diabetic forefoot and underlies more than 90% of cases of pedal osteomyelitis. The diagnosis of osteomyelitis is, nevertheless, difficult, and imaging is an important part of the work‐up. Plain radiographs, although useful for anatomical information, are neither sensitive nor specific. Three‐phase bone scintigraphy is sensitive but not specific. Labeled leucocyte scintigraphy and MRI are both useful and are complementary to one another. Labeled leucocyte scintigraphy is valuable for diagnosis as well as follow‐up of pedal osteomyelitis. MRI offers exquisite anatomical detail, which is invaluable for guiding surgical management. The principal complication in the mid and hind foot is the neuropathic or Charcot joint. Although infection of the neuropathic joint is infrequent, its diagnosis is difficult. The extensive bony changes that accompany this disorder severely diminish the value of radiography and bone scintigraphy. It is not always possible to distinguish the marrow oedema of neuropathy from that of osteomyelitis and the role of MRI in the evaluation of this entity is still uncertain. Uptake of labeled leucocytes in the absence of infection may occur and is owing, at least in part, to haematopoietically active marrow. Combined leucocyte/marrow scintigraphy holds considerable promise for identifying the infected Charcot joint.

Arthrodesis of the knee: Experience with intramedullary nailing

Knee arthrodesis using an intramedullary nail has gained acceptance as treatment in difficult cases such as infection after total knee arthroplasty (TKA), neuropathic joint, and obesity. A retrospective review of 22 cases treated at our institution using an intramedullary nail for knee arthrodesis was performed. Deep infection after primary (11) or revision (6) TKA was the most common indication for this procedure. A long intramedullary nail was used in 3 cases, a long nail with a proximal interlocking screw was used in 6 cases, and a customized nail with a valgus bend and a proximal interlocking screw was used in 11 cases. A modular knee fusion nail was used in 1 case. Successful fusion occurred in all cases, although 4 patients required additional surgery. Average operative blood loss was 748 mL, and average time to union was 7 months. Shortening of the extremity averaged 3.2 cm. Tibiofemoral alignment was improved by using a customized valgus nail (average, 3.1 valgus; range, 1-5) when compared with a straight nail (average, 0.2 valgus; range, 3 varus to 3 valgus). No patient developed infection in the hip or ankle region as a result of the long intramedullary nail. Intramedullary nailing is an excellent technique for knee arthrodesis in difficult cases. A customized proximal interlocking nail with 5° to 7° of valgus and 5° of anterior angulation improves tibiofemoral alignment and is straightforward to insert or extract should it be necessary. Stability and pain relief are rapid, and the fusion rate is maximized.

Neuropathic osteoarthropathy: diagnostic dilemmas and differential diagnosis.

The purpose of this pictorial essay is to illustrate the radiologic spectrum of imaging findings of neuropathic osteoarthropathy. Typical findings include joint destruction, disorganization, and effusion with osseous debris. A variety of other imaging findings related to neuropathic osteoarthropathy such as resorption of the ends of tubular bones and neuropathic fracture are shown. The two prevailing theories for the pathophysiology of neuropathic bone and joint disease, the neurovascular and neurotraumatic theories, are briefly described. Examples of osteoarthropathy from diverse causes are presented including syringomyelia, spinal cord injury, meningomyelocele, diabetes mellitus, congenital insensitivity to pain, steroid injections, syphilis, leprosy, and others. The discussion focuses on key imaging features with emphasis on disease patterns and differential diagnosis, which vary by skeletal location.

Knee arthrodesis using the Ilizarov technique

Arthrodesis of the knee without or with simultaneous lengthening. Severe degenerative osteoarthritis in younger patients. Neuropathic joint with bone loss and/or ligamentous instability. Failed total knee arthroplasty. Absolute: extensive osteomyelitis. Relative: severe bone deficiency. In elderly patients a simultaneous limb lengthening constitutes a relative contraindication. For primary arthrodesis: resection of articular cartilage and subchondral bone. For aseptic loosening: removal of components and alignment of bone ends. For infected total joint: 2-stage procedure. In all instances obtain a slight flexion at the arthrodesis. Temporary fixation with crossed Kirschner wires. Application of Ilizarov frame and compression. For lengthening: Ilizarov distraction method. Between 1993 and 1996, 11 patients underwent an Ilizarov knee arthrodesis with an average follow-up interval of 35 months. Indications included: severe osteoarthritis, 2: ligament instability in spina bifida patient, 1; and failed total knee arthroplasty, 8. Three patients developed a pseudarthrosis, all were noted to have a severe bone loss. Two of these patients were fitted with an orthosis and the 3rd underwent a successful AO double plate fixation. Removal of wires on account of infection was needed twice. Average time to union was 4.5 months.

The diabetic foot.

Foot complications in diabetics often lead to amputation. Ulceration is the most common complication in the diabetic forefoot and underlies more than 90% of cases of pedal osteomyelitis. The diagnosis of osteomyelitis is, nevertheless, difficult, and imaging is an important part of the work-up. Plain radiographs, although useful for anatomical information, are neither sensitive nor specific. Three-phase bone scintigraphy is sensitive but not specific. Labelled leucocyte scintigraphy and MRI are both useful and are complementary to one another. Labelled leucocyte scintigraphy is valuable for diagnosis as well as follow-up of pedal osteomyelitis. MRI offers exquisite anatomical detail, which is invaluable for guiding surgical management. The principal complication in the mid and hind foot is the neuropathic or Charcot joint. Although infection of the neuropathic joint is infrequent, its diagnosis is difficult. The extensive bony changes that accompany this disorder severely diminish the value of radiography and bone scintigraphy. It is not always possible to distinguish the marrow oedema of neuropathy from that of osteomyelitis and the role of MRI in the evaluation of this entity is still uncertain. Uptake of labelled leucocytes in the absence of infection may occur and is owing, at least in part, to haematopoietically active marrow. Combined leucocyte/marrow scintigraphy holds considerable promise for identifying the infected Charcot joint.

Popliteal Arterial Hemorrhage in a Chronic Renal Failure Patient with Destructive Arthropathy

Popliteal arterial hemorrhage is a rare but potentially devastating complication of markedly deformed joints. This report describes a 57-year-old Filipino man with chronic renal failure and destructive arthropathy caused by crystal deposition and /or a neuropathic joint, who presented with the complication of acute popliteal arterial hemorrhage. The case illustrates a rare combination of articular diseases underlying a completely altered joint structure and biomechanics, resulting in an acute popliteal arterial tear and hemorrhage.

Diabetic Foot and Neuroarthropathy

Neuropathic osteoarthropathy occurs commonly in patients with long-standing diabetes mellitus and is one of the leading causes of debilitating complications of the foot. In this article, the pathologic and radiologic features of neuropathic joint disease are reviewed, with an emphasis on MRI.

Radionuclide imaging in orthopedic infections

In otherwise normal bone, Three Phase Bone Scintigraphy is sensitive and specific for osteomyelitis. In patients with underlying osseous abnormalities the specificity of the study is decreased. The four phase bone scan, bone/gallium scintigraphy, leukocyte imaging, leukocyte/bone and leukocyte/marrow studies have all been reported to increase specificity. The techniques, strategies, and limitations are discussed. No single study is equally useful in all situations. Labeled leukocyte imaging is of little value in vertebral osteomyelitis because this entity often presents as a nonspecific photopenic defect. The preferred technique for the spine is bone/gallium imaging. Intense uptake, on bone scintigraphy, in two adjacent vertebrae with loss of the disc space is highly suggestive of spinal osteomyelitis. Gallium not only enhances the specificity of the diagnosis but provides information about surrounding soft tissue infection. In the diabetic foot, labeled leukocyte imaging alone is sufficient to determine the presence of osteomyelitis in the fore--foot. In the midfoot and hindfoot it may be necessary to combine leukocyte scintigraphy with bone scintigraphy to precisely localize the infection. Labeled leukocytes accumulate in the uninfected neuropathic joint and preliminary data suggest that leukocyte/marrow imaging may be useful to determine the significance of such uptake. For the painful joint replacement, if infection is the primary concern, leukocyte/marrow scintigraphy should be performed initially. If any postoperative complication, regardless of type, is the concern, it is reasonable to begin with bone scintigraphy because a normal study rules strongly against any complication. An abnormal bone scan will require additional studies to more precisely determine the cause of that abnormality.

Time-dependent changes of insufficiency fractures of the sacrum: intraosseous vacuum phenomenon as an early sign.

Sacral insufficiency fractures develop over a period of time and show time-dependent changes. We report on 15 CT examinations of 5 patients with early-stage insufficiency fractures of the sacrum. In 4 patients only irregular sclerosis without distinct fracture lines was present in 7 of 8 fractures. Of these 4 patients; 3 exhibited intraosseous gas inclusions in a ventral part of a lateral mass; 5 of 8 fractures disclosed a ventral cortical break. When distinct fracture lines had developed in 1 patient, intraosseous vacuum phenomenon had disappeared. Fracture lines evolve over weeks to months and show central bone absorption. The fractures can heal as demonstrated in 4 of 6 fractures in 3 patients, can persist over 1 year without significant changes or can progress to pseudoarthrosis with bone destruction similar to neuropathic joint disease. Intraosseous vacuum phenomena can persist to this stage. Intraosseous vacuum phenomenon is recognized as a potential finding in the early stage of sacral insufficiency fracture, which also is true for irregular sclerosis and ventral cortical disruption.

Exclusion of p75 NGFR and other candidate genes in a family with hereditary sensory neuropathy Type II

Hereditary sensory neuropathy Type II (HSN II) is an autosomal recessive disorder characterized by the loss of peripheral sensory modalities in individuals with otherwise normal development. Patients with HSN II often have chronic ulceration of the fingers and toes, autoamputation of the distal phalanges, and neuropathic joint degeneration associated with loss of pain sensation. Recent descriptions of a similar phenotype in mice carrying a targeted mutation in the low affinity nerve growth factor receptor, p75 NGFR, suggested the possibility that mutations in this gene or other members of the nerve growth factor (NGF) family of genes and their receptors might be responsible for this human disorder. In this study candidate genes were evaluated by their inheritance pattern in two sisters affected with HSN II, their unaffected sister and mother in a consanguineous family. The segregation of polymorphic alleles at and around loci for p75 NGFR, TRKA, TRKB, BDNF, and familial dysautonomia (another hereditary sensory neuropathy having features in common with HSN II) virtually excluded these genes as the cause of HSN II in this family. Further evaluation of loci for other neurotrophic factors and their receptors, which will be possible when mapping information on their loci becomes available, may permit the identification of the gene responsible for HSN II.

Single Plane and Biplane External Fixators for Knee Arthrodesis

Thirty-six knee arthrodeses performed using an external fixator with an average followup of 48 months were reviewed retrospectively. A single plane fixator was used in 19 cases and a biplane fixator in 17 cases. The reasons for fusion included an infected total knee arthroplasty (21 cases), aseptic loosening of a total knee arthroplasty (9 cases), posttraumatic osteoarthritis (3 cases), and a neuropathic joint, an infected unicondylar knee arthroplasty, and a tuberculous joint (1 case each). A fusion was obtained after the initial procedure in 22 patients (61%). With additional procedures, a fusion was obtained eventually in 27 patients (75%). The fusion rate decreased with an increasing number of prior knee procedures. Single and biplane external fixator designs had similar initial fusion rates (single 58%, biplane 65%). Complications included 14 nonunions (5 fused with additional procedures), 6 pin tract infections, 5 delayed unions, 1 stress fracture through a pin site, and 1 persistent infection resulting in an above-knee amputation. Despite biomechanical advances in external fixator design, knee arthrodesis remains difficult to achieve in patients who have had multiple previous procedures, a failed total knee arthroplasty, or an infected total knee arthroplasty with significant bone loss.

TREATMENT OF THE NEUROPATHIC KNEE BY ARTHROPLASTY

The neuropathic joint is one of the most difficult management problems in orthopaedic practice. The surgeon is often referred the patient late in the course of the disease, when there has been marked joint destruction so that non-operative measures are not suitable. We report a case of a severely deformed neuropathic knee joint, for which an uncemented total knee replacement was performed. The rationale for use of this procedure instead of arthrodesis, and discussion of the condition follow.

Imaging of dissecting neuropathic joints

Imaging of dissecting neuropathic joints

Tibiocalcaneal Arthrodesis for Nonbraceable Neuropathic Ankle Deformity

Seven patients with nonbraceable, neuropathic ankle joints have been successfully treated by tibiocalcaneal arthrodesis utilizing an adolescent condylar blade plate, large cannulated AO screws, and a special cancellous allograft mixture. All patients had fragmentation and partial resorption of the talus. This procedure was considered as an alternative to below-knee amputation. Goals were limb salvage and limited community ambulation. Criteria for proceeding with the fusion were a commitment by the patient to 6 to 8 months of nonweightbearing ambulation, a biopsy and culture of the talus revealing no evidence of infection, and a nonbraceable deformity of the foot and ankle that would otherwise require amputation. A toe-level Doppler index or a transcutaneous oxygen index of greater than 0.45 was required. All patients were treated initially in a total contact cast or bivalved total contact ankle-foot orthosis (AFO) until wounds and swelling were controlled and there was no erythema. Presence of an ulcer did not preclude surgery. The arthrodesis used a combination of 7.0-mm AO cannulated screws and an adolescent condylar blade plate. A special preparation of fresh-frozen, irradiated, cancellous allograft mixed with tobramycin and vancomycin powder was used. All ankles fused solidly in an average of 5.2 months. No infectious complications were encountered. Two patients developed a stress fracture of the tibia at the proximal aspect of the blade plate before use of a bivalved AFO. These healed with nonoperative treatment in 6 weeks. All patients were satisfied with their result at their latest follow-up (average 26.9 months).(ABSTRACT TRUNCATED AT 250 WORDS)

Case report: Rapidly progressive neuropathic arthropathy in syringohydromyelia — Radiographic and magnetic resonance imaging findings

A rapidly progressive neuropathic shoulder joint in a patient with syringohydromyelia is presented. He developed marked destruction of the shoulder joint over 5 weeks. The MRI findings in the pre- and post-resorptive phases of the arthropathy are presented for the first time. Low signal intensity areas are observed in the medullary cavity of the bone on both T1- and T2-weighted spin-echo images even before the actual resorptive process starts. Additional major findings are the joint effusion and synovial thickening.

Acute Neuropathic Joint in Diabetic Foot: Plain Radiographic Findings

Acute Neuropathic Joint in Diabetic Foot: Plain Radiographic Findings

Osteomyelitis in the Foot and Ankle Associated With Diabetes Mellitus

Osteomyelitis in a foot or ankle is a common complication in patients with diabetes mellitus. Although acute osteomyelitis can be a surgical emergency, this presentation is uncommon. Chronic bone infection in most patients is associated with either vascular impairment or neuropathic skin breakdown or both. Neuropathic joints and stress fractures have to be differentiated from radiographic abnormalities caused by infection.

The Classic

Jean-Martin Charcot (Fig. 1) was born in Paris, where his father was a carriage builder. He was educated in Paris and, after deciding to become a doctor, entered medical school at the age of 19. At that time, Paris was the world center of medical thought and activity; Charcot was exposed to some of the best teachers available. As he progressed through his training, he continued to develop his skills at drawing. His doctoral thesis, illustrated by his own drawings, dealt with the differential diagnosis of gout and other forms of acute rheumatism. Moving up the academic ladder, Charcot, in 1862, was appointed chief physician of l'Hospice de la Salpêtrière, an ancient hospital that contained 5000 chronically ill patients of all types. It was from this voluminous material that he described various conditions that established his reputation as the founder of the specialty of neurology. Perhaps his greatest contribution was the recognition that “locomotor ataxia,” a frequent cause of disability, was caused by tabes dorsalis, a form of neurosyphilis. Charcot was a great teacher, whose clinics became world famous. His relationship with Duchenne was very productive and his students, Jules Dejerine, Pierre Marie, and J. Babinski, carried on his great tradition. The following description of neuropathic joint disease is contained in one of his lectures on the subject of locomotor ataxia. It is interesting to note that he did not associate diabetes in any way with the development of this condition, relating it only to locomotor ataxia. LEONARD F. PELTIER, M.D., PH.D.