Pott s disease

Definition Pott s disease is a presentation of extrapulmonary tuberculosis that affects the spine, a kind of tuberculous arthritis of the intervertebral joints. It is named after Percivall Pott (1714-1788), a London surgeon who trained at Barts. Scientifically, it is called tuberculous spondylitis and it is most commonly localized in the thoracic portion of the spine. AKA: Pott's syndrome, Pott's caries, Pott's curvature, angular kyphosis, kyphosis secondary to tuberculosis, tuberculosis of the spine, tuberculous spondylitis and David's disease
Physical exam: The exam may show localized tenderness over the spine; pain may precede x-ray changes by weeks to months.
As the disease progresses, abnormal curvature in the spine may develop. Deformities may include a humpback (kyphoscoliosis) or a side-to-side curvature (scoliosis).

Risk/ Predisposing factors Manifestation: back pain fever night sweating anorexia weight loss Spinal mass, sometimes associated with numbness, tingling, or muscle weakness of the legs Race Data from Los Angeles and New York show that musculoskeletal tuberculosis primarily affects African Americans, Hispanic Americans, Asian Americans, and foreign-born individuals. As with other forms of tuberculosis, the frequency of Pott Disease is related to socioeconomic factors and historical exposure to the infection. Sex Although some series have found that Pott disease does not have a sexual predilection, the disease is more common in males (male-to-female ratio of 1.5-2:1). Age In the United States and other developed countries, Pott disease occurs primarily in adults. In countries with higher rates of Pott disease, involvement in young adults and older children predominates. Type/ Stage/ Classification Bone/Spinal Disease Non-Communicable Disease

Pathophysiology Pott s disease is usually secondary to an extraspinal source of infection. The basic lesion involved in Pott s disease is a combination of osteomyelitis and arthritis that usually involves more than one vertebra. The anterior aspect of the vertebral body adjacent to the subchondral plate is area usually affected. Tuberculosis may spread from that area to adjacent intervertebral disks. In adults, disk disease is secondary to the spread of infection from the vertebral body. In children, because the disk is vascularized, it can be a primary site. Progressive bone destruction leads to vertebral collapse and kyphosis. The spinal canal can be narrowed by abscesses, granulation tissue, or direct dural invasion, leading to spinal cord compression and neurologic deficits. The kyphotic deformity is caused by collapse in the anterior spine. Lesions in the thoracic spine are more likely to lead to kyphosis than those in the lumbar spine. A cold abscess can occur if the infection extends to adjacent ligaments and soft tissues. Abscesses in the lumbar region may descend down the sheath of the psoas to the femoral trigone region and eventually erode into the skin.

Pulmonary tuberculosis

Spread of mycobacterium tuberculosis from other Extrapulmomary tuberculosis The infection spreads from two adjacent vertebrae into the adjoining disc space

Back pain, Fever, Night sweats, Anorexia, Weight loss, and easy fatigability.
One vertebra is affected, the disc is normal Two are involved; the avascular intervertebral disc cannot receive nutrients and collapse Disk tissue dies and broken down by caseation

Vertebral narrowing

Vertebral collapse

Spinal damage

POTTS DISEASE Kyphosis, paraplegia, bowel and urinary incontinenece Surgery: evacuation of pus, Anterior decompression spinal fusion

Diagnostic Studies Laboratory Studies Tuberculin skin test (purified protein derivative [PPD]) results are positive in 84-95% of patients with Pott disease who are not infected with HIV.

The erythrocyte sedimentation rate (ESR) may be markedly elevated (>100 mm/h). Microbiology studies are used to confirm diagnosis. Bone tissue or abscess samples are obtained to stain for acid-fast bacilli (AFB), and organisms are isolated for culture and susceptibility. CT-guided procedures can be used to guide percutaneous sampling of affected bone or soft-tissue structures. These study findings are positive in only about 50% of the cases. Imaging Studies Radiography Radiographic changes associated with Pott disease present relatively late. The following are radiographic changes characteristic of spinal tuberculosis on plain radiography:13 Lytic destruction of anterior portion of vertebral body Increased anterior wedging Collapse of vertebral body Reactive sclerosis on a progressive lytic process Enlarged psoas shadow with or without calcification Additional radiographic findings may include the following: Vertebral end plates are osteoporotic. Intervertebral disks may be shrunk or destroyed. Vertebral bodies show variable degrees of destruction. Fusiform paravertebral shadows suggest abscess formation. Bone lesions may occur at more than one level. CT scanning14 CT scanning provides much better bony detail of irregular lytic lesions, sclerosis, disk collapse, and disruption of bone circumference. Low-contrast resolution provides a better assessment of soft tissue, particularly in epidural and paraspinal areas. CT scanning reveals early lesions and is more effective for defining the shape and calcification of soft-tissue abscesses. In contrast to pyogenic disease, calcification is common in tuberculous lesions. MRI MRI is the criterion standard for evaluating disk-space infection and osteomyelitis of the spine and is most effective for demonstrating the extension of disease into soft tissues and the spread of tuberculous debris under the anterior and posterior longitudinal ligaments. MRI is also the most effective imaging study for demonstrating neural compression. MRI findings useful to differentiate tuberculous spondylitis from pyogenic spondylitis include thin and smooth enhancement of the abscess wall and well-defined paraspinal abnormal signal, whereas thick and irregular enhancement of abscess wall and ill-defined paraspinal abnormal signal suggest pyogenic spondylitis. Thus, contrast-enhanced MRI appears to be important in the differentiation of these two types of spondylitis. Other Tests Radionuclide scanning findings are not specific for Pott disease. Gallium and Tc-bone scans yield high false-negative rates (70% and up to 35%, respectively). Management

Medical Care Before the advent of effective antituberculosis chemotherapy, Pott disease was treated with immobilization using prolonged bed rest or a body cast. At the time, Pott disease carried a mortality rate of 20%, and relapse was common (30%). The duration of treatment, surgical indications, and inpatient care have since evolved. Studies performed by the British Medical Research Council indicate that tuberculous spondylitis of the thoracolumbar spine should be treated with combination chemotherapy for 6-9 months. According to the most recent recommendations issued in 2003 by the US Centers for Disease Control and Prevention, the Infectious Diseases Society of America, and the American Thoracic Society, a 4-drug regimen should be used empirically to treat Pott disease. Isoniazid and rifampin should be administered during the whole course of therapy. Additional drugs are administered during the first 2 months of therapy. These are generally chosen among the first-line drugs, which include pyrazinamide, ethambutol, and streptomycin. The use of second-line drugs is indicated in cases of drug resistance. Regarding the duration of therapy, the British Medical Research Council studies did not include patients with multiple vertebral involvement, cervical lesions, or major neurologic involvement. Because of these limitations, many experts still recommend chemotherapy for 9-12 months. Opinions differ regarding whether the treatment of choice should be conservative chemotherapy or a combination of chemotherapy and surgery. The treatment decision should be individualized for each patient. Routine surgery does not to seem to be indicated. Most common indications for surgical procedures are discussed below. Surgical Care Indications for surgical treatment of Pott disease generally include the following: Neurologic deficit (acute neurologic deterioration, paraparesis, paraplegia) Spinal deformity with instability or pain No response to medical therapy (continuing progression of kyphosis or instability) Large paraspinal abscess Nondiagnostic percutaneous needle biopsy sample Resources and experience are key factors in the decision to use a surgical approach. The lesion site, extent of vertebral destruction, and presence of cord compression or spinal deformity determine the specific operative approach (kyphosis, paraplegia, tuberculous abscess). Vertebral damage is considered significant if more than 50% of the vertebral body is collapsed or destroyed or a spinal deformity of more than 5 exists. The most conventional approaches include anterior radical focal debridement and posterior stabilization with instrumentation. In Pott disease that involves the cervical spine, the following factors justify early surgical intervention: High frequency and severity of neurologic deficits Severe abscess compression that may induce dysphagia or asphyxia Instability of the cervical spine Contraindications: Vertebral collapse of a lesser magnitude is not considered an indication for surgery because, with appropriate treatment and therapy compliance, it is less likely to progress to a severe deformity.

Nursing Diagnosis Acute pain related to inflammatory process Disturbed body image related to trauma/injury to spinal cord Self bathing hygiene deficit related to musculoskeletal impairment Impaired physical mobility related to therapeutic restriction of movement Imbalance nutrition related to inadequate food intake Nursing Responsibilities Drug treatment is generally sufficient for Pott s disease, with spinal immobilization if required. Surgery is required if there is spinal deformity or neurological signs of spinal cord compression. Standard antituberculosis treatment is required. Duration of antituberculosis treatment: If debridement and fusion with bone grafting are performed, treatment can be for six months. If debridement and fusion with bone grafting are NOT performed a minimum of 12 months treatment is required. It may also be necessary to immobilize the area of the spine affected by the disease, or the person may need to undergo surgery in order to drain any abscesses that may have formed or to stabilize the spine. Other interventions include application of knight/ taylor brace, head halter traction. Surgery includes ADSF (Anterior decompression Spinal fusion).

Illustration: Internet http://www.patient.co.uk/showdoc/40001278/ http://emedicine.medscape.com/article/226141 http://www.scribd.com Book Medical Surgical Nursing by Suzanne Smeltzer and Brenda Bare, 10th Edition, Musculoskeletal Medical Surgical Nursing by Joyce Black Chapter 68-

Marfan syndrome is an inherited condition that affects connective tissue the fibers that provide the framework and support for your body. The defective connective tissue affects many body systems, including the skeleton, eyes, cardiovascular system, nervous system and skin. Damage from Marfan syndrome can range from mild to severe. It was first described by Antonin Marfan in 1896, and is one of the most common connective tissue disorders, affecting approximately one in every 10,000 Americans. Although there is no cure for Marfan syndrome, with proper treatment most people with the disease can lead full, active lives. Marfan syndrome is caused by a defect in the gene responsible for the structure of fibrillin 1, a protein that helps lend elasticity to connective tissue. Although you are born with the disorder, symptoms may not become apparent and you may not be diagnosed until later in life. The defective gene expresses itself in different ways in different people, so the disorder will produce different symptoms in different families and in individuals within families. People with Marfan syndrome have abnormalities in multiple organs and tissues. Some people have only mild symptoms, whereas others are more severely affected. In most cases, symptoms progress with age. Skeleton Features Tall stature Slender build Abnormal body proportions: long arm span and long legs compared with the torso Long fingers and toes Sternum abnormalities: breastbone either protrudes or is indented Scoliosis: abnormal vertebral column curvature Loose joints Long, narrow, flat feet: cannot withstand ordinary stresses, leading to chronic foot pain Long, narrow face Crowded teeth: caused by arched palate Arthritis: People with Marfan syndrome may be predisposed to develop degenerative arthritis in middle age. Osteoporosis: People with Marfan syndrome may be predisposed to develop osteoporosis in middle age. Spondylolisthesis: one vertebrae slips forward over another, leading to back pain and stiffness Eye Symptoms Myopia: extreme nearsightedness Lens dislocation: lenses of the eye may be high, low or shifted off to one side Glaucoma: high pressure within the eye Cardiovascular System Symptoms o Aortic dilatation and dissection: The walls of the large artery that carries blood from the heart to the rest of the body are weak. The artery walls may stretch and eventually tear. This is the main cause of death in people with Marfan syndrome. Women are at increased risk during pregnancy. o Mitral valve prolapse: The valve that separates the two chambers on the left side of the heart

may not work properly. The valve may allow blood to flow in the wrong direction (mitral valve regurgitation). Nervous System Symptoms Dural ectasia: The dura (membrane enclosing fluid that surrounds the brain and spinal cord) may weaken and stretch, eventually causing mild aching in the lower back, abdominal pain, headache, or pain and numbness in the legs. Skin Symptoms Stretch marks: may occur anywhere on the body without weight change. Diagnosis is based primarily on clinical features and the autosomal dominant inheritance pattern. The doctor or a geneticist relies on a complete medical history, a detailed physical exam and a few tests, including Information about any family members who may have the disorder or who had an early, unexplained heart-related death. A physical examination that includes an evaluation of your arm and leg length in relation to trunk size. An eye examination: a slit lamp evaluation would be done to look at the lens as well as other structures of the eye that can be affected in Marfans. Other tests may be conducted to check for glaucoma as well. An echocardiogram: a test that uses ultrasound to evaluate the heart and aorta Most likely a variety of doctors will be involved in your care, including: Primary care physician: may coordinate care of the specialists Cardiologist: heart and circulatory system specialist Ophthalmologist: eye specialist Orthopedic surgeon: musculoskeletal system specialist Medical geneticist: inherited disease specialist There is no cure for Marfan syndrome, so treatment focuses on easing the symptoms and preventing complications. Cardiovascular system Echocardiograms: Having your aorta and mitral valve evaluated regularly can alert your cardiologist to a developing problem. Beta blockers: These medications cause your heart to beat more slowly and with less force, lowering your risk of aorta dilatation and dissection. Surgery: If your aorta becomes very enlarged or is a significant risk of rupturing, you may need to have it surgically replaced. Likewise, if your mitral valve allows too much backflow, replacement may be necessary. Skeletal system Annual checkups: Regular evaluations are necessary, especially during times of rapid growth. Bracing: If spine curvature (scoliosis) is significant, bracing can prevent worsening but cannot straighten the spine. Surgery: Spine-straighten ing surgery may be necessary if scoliosis is impairing heart or lung function. Surgery is the only treatment option if a concave chest affects breathing. Eyes

Annual eye exams: Regular evaluation help identify problems early. Glasses or contact lenses: Corrective lenses usually are effective at treating dislocated lenses in younger children. Surgery: Intraocular lens implants may be necessary for some people with dislocated lenses. Glaucoma treatment: Eye drops, oral medications and surgical procedures can prevent or slow damage. Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. It is hereditary. The majority of children with marfan inherit the disorder from a parent; however, 25 percent develop the disease due to a spontaneous mutation that takes place in the sperm or egg before conception. A person with marfan has a 50 percent chance of passing the disorder on the each of his or her children.

prevalance The Marfan syndrome is an autosomal dominant disorder of the connective tissue with mutations on the fibrillin-1 gene encoding for fibrillin, a major component of the extracellular microfibrils. The prevalence of the syndrome is 7-17/100,000 Etiology
The etiology of marfan syndrome would be the mutations in the protein FBN1 in the gene chromosome 15.