Diagnosis of Marfan syndrome
Marfan syndrome Diagnosis: Book Excerpts
Tests and diagnosis discussion for Marfan syndrome:
There is no specific laboratory test, such as a blood test
or skin biopsy, to diagnose Marfan syndrome. The doctor and/or
geneticist (a doctor with special knowledge about inherited diseases)
relies on observation and a complete medical history, including
- information about any family members who may have the disorder or
who had an early, unexplained heart-related death
- a thorough physical examination, including an evaluation of the
skeletal frame for the ratio of arm/leg size to trunk size
- an eye examination, including a "slit lamp" evaluation
- heart tests such as an echocardiogram (a test that uses ultrasound
waves to examine the heart and aorta).
The doctor may diagnose Marfan syndrome if the patient has
a family history of the disease and there are specific problems in at
least two of the body systems known to be affected. For a patient with
no family history of the disease, at least three body systems must be
affected before a diagnosis is made. Moreover, two of the systems must
show clear signs that are relatively specific for Marfan syndrome.
In some cases, a genetic analysis may be useful, but such
analyses are often time consuming and may not provide any additional
helpful information. Family members of a person diagnosed with Marfan
syndrome should not assume they are not affected if there is no
knowledge that the disorder existed in previous generations of the
family. After a clinical diagnosis of a family member, a genetic study
might identify the specific mutation for which a test can be performed
to determine if other family members are affected.
(Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)
Diagnostic Tests for Marfan syndrome: Online Medical Books
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CHEST DEFORMITY:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
Plain films of the chest, thoracic spine, and ribs will usually be diagnostic of chest deformities. Sputum culture and sensitivity, pleural fluid analysis, culture, and CT scans will be helpful in confusing cases. Referral to a pulmonologist will also help clear up the confusion.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
SCOLIOSIS:
Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Is there a history of trauma? Patients with scoliosis and a history of trauma should be suspected of having a thoracic or lumbosacral sprain, fracture, or herniated disk.
- Is the neurologic examination abnormal? Abnormal neurologic findings should suggest poliomyelitis, muscular dystrophy, multiple sclerosis, syringomyelia, Friedreich's ataxia, and many other disorders.
- If the neurologic examination is abnormal, are there motor findings only or both sensory and motor findings? Abnormal motor findings would suggest poliomyelitis or muscular dystrophy, whereas abnormal sensory and motor findings would suggest multiple sclerosis, syringomyelia, and Friedreich's ataxia, among other disorders.
- Does x-ray show bone disease? Diseases of the bone that may cause scoliosis are Paget's disease, osteoporosis, destructive disease of the vertebrae such as tuberculosis, osteogenesis imperfecta, rickets, congenital hemivertebra, and Klippel-Feil syndrome.
- If x-ray shows bone disease, is the patient a child or an adult? Children with scoliosis and bone disease may have rickets, osteogenesis imperfecta, congenital hemivertebra, and Klippel-Feil syndrome. Adults with x-ray changes of bone diseases may have Paget's disease, osteoporosis, destructive disease of the vertebrae, and other disorders.
- Is one leg shorter than the other? A short leg would suggest congenital or acquired short-leg syndrome.
DIAGNOSTIC WORKUP
The vast majority of mild cases of scoliosis require only x-rays and watchful expectancy or referral to an orthopedic surgeon. Routine diagnostic workup may include a CBC, sedimentation rate, urinalysis, chemistry panel, arthritis panel with ANA and HLA B27 antigen, tuberculin test, and a spinal survey including both recumbent and upright views. A bone survey may need to be done also. A bone scan may be necessary to detect subtle bone disease. If these tests are negative, the patient should be referred to an orthopedic surgeon. EMG examinations, nerve conduction velocity studies, CT scans, and MRIs may be necessary. Remember, scoliosis is rarely the cause of back pain unless the spinal angulation exceeds 40 degrees.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
Scoliosis & Kyphosis:
Differential Diagnosis
(In a Page: Signs and Symptoms)
Scoliosis
- Idiopathic (75–80% of cases) scoliosis usually occurs in otherwise healthy patients; pain and neurologic deficits are rare; right thoracic curve is most common, then double curve (right thoracic and left lumbar); named by convex side
–Infantile (birth to 3 years): Rare in the U.S.
–Juvenile (4–10 years): Uncommon
–Adolescent (11 years to skeletal maturity):
Occurs mostly in females
-
Neuromuscular scoliosis
–Common with paralytic disorders
–More severe, almost always progressive
-
Congenital scoliosis
–Failure of formation or segmentation
Kyphosis
-
Postural roundback
-
Scheuermann's disease
–Second most common pediatric spinal deformity
–Cannot voluntarily correct
–Angulation in mid- to low-thoracic spine
-
Congenital kyphosis
Less common etiologies (“zebras”)
-
Post-thoracotomy
-
Marfan's syndrome
-
Neurofibromatosis
-
Achondroplasia
-
Diastrophic dwarfism
-
Specific neuromuscular disorders (e.g., cerebral palsy, syringomyelia, polio, muscular dystrophy, cord tumor/trauma)
Workup and Diagnosis
-
History and physical examination, including peripheral neurologic exam
–Scoliosis: Inspect the back, shoulders, and pelvis for scapular prominence; rib prominence (especially with Adams forward bend test), shoulders, or pelvis not level; “rib hump” measured with scoliometer on bending; assess decompensation by using plumb bob to measure location of C7 with respect to gluteal cleft
–Kyphosis: Inspect the spine for curve greater than normal of 25–45° in the thoracic spine; assess patient's ability to extend to correct curvature
- A/P and lateral X-rays of entire spine with extra long cassette (scoliosis series)
- Scoliosis: Curve is measured by Cobb method (angle between the axes of the inferior and superior vertebrae with maximal tilt)
–Stagnara view for severe curves: A/P X-ray of vertebral bodies
–Bending versus traction views if surgery is contemplated
–MRI or CT if abnormal neurologic exam, unusual curves, rapid progression, or congenital
–Pulmonary function tests are indicated in severe disease to evaluate for pulmonary dysfunction due to decreased rib cage space - Kyphosis: Supine hyperextension films
» READ BOOK EXCERPT ONLINE »
Source: In a Page: Signs and Symptoms, 2004
Scoliosis:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
-
Idiopathic scoliosis
–Lateral deviation or curvature of either the
thoracic or lumbar spine greater than 10°
–Right thoracic curves are most common
–Usually presents in early adolescence
–Girls > boys
-
Risk factors for progression
–Curve >20°
–Age less than 12
–Skeletal maturity, Risser stage 0–1
-
Infantile idiopathic scoliosis
–Presents at 0–3 years old
–Left thoracic curve more common
–Boys > girls
–85% spontaneously resolve
–Must rule out spinal cord disease or
congenital cause of scoliosis
-
Juvenile idiopathic scoliosis presents at 3–10 years old and is similar to adolescent (idiopathic) scoliosis
- Neuromuscular scoliosis
–Related to cerebral palsy, muscular dystrophy, myotonic myopathy, and spinal muscular atrophy
–Tends to progress more rapidly and even continues after maturity, as compared to idiopathic scoliosis
–Pulmonary complications seen with severe curves >90°
-
Congenital scoliosis
–Failure of formation or segmentation of spinal vertebra
–Rapid progression and worse prognosis is associated with unilateral unsegmented bar with contralateral hemivertebra
-
Other causes
–Tumor, infection, neurofibromatosis, metabolic bone disorders, and Marfan syndrome
Workup and Diagnosis
-
Generally patients are referred after either school screening for scoliosis or well-child check
-
History
–Painful symptoms in the history should be a red flag to
rule out infection, tumor, or spinal cord anomaly
–There is often a positive family history
- Clinical examination
–Careful neurologic examination
–Moderate to severe curves demonstrate shoulder and waist asymmetry, trunk shift, and limb length inequality
–Forward bending test: Examiner stands behind patient while patient bends forward from the waist, hands hanging down, feet together and knees straight, evaluating for rib hump or depression or asymmetric paravertebral muscles
–Scoliometer may be used to measure rotational deformity (>7° requires radiographic evaluation)
- Radiographic studies
–X-ray: Standing AP and lateral radiographs allow measurement of curves by Cobb method (Cobb angle is made by line drawn along superior endplate of uppermost tilted vertebra and a line drawn along inferior endplate of lowest vertebra in curve)
–MRI indicated for neurologic compromise, excessive kyphosis, onset of scoliosis after age 11 years, rapid curve progression, structural abnormalities noted on plain X-ray, and left thoracic or thoracolumbar curves
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Asymmetric Limbs:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
-
Physiologic: Left leg is often longer than right, and right arm is longer than left, though it is usually not noticeable
-
Disturbances of bone
–Increased blood flow such as occurs in arthritis (infectious, inflammatory), neoplasms, or AVM
–Premature closure of epiphysis occurs with infection, fracture, radiation therapy, JRA
–Fracture may also result in malposition or
malunion
–Diaphyseal operations (bone grafts,
osteotomy)
–Developmental dysplasia of the hip
–Coxa vara, tibia vara (Blount disease)
–Hypoplastic bones (short femur)
–Legg-Calvé-Perthes disease
–SCFE
–Syndromes such as Albright; Ollier disease;
neurofibromatosis
–Rickets
- Hemihypertrophy
–Idiopathic: May be associated with other anomalies involving GU tract, hemangiomas, mental retardation, and pigmented skin lesions
–Associated with tumors: Wilms, adrenocortical, hepatoblastoma
–Associated with dysmorphogenic syndromes: Beckwith-Wiedemann, Russell-Silver,
Proteus
–Associated with soft tissue abnormalities: Lymphedema, Klippel-Trenaunay-Weber syndrome
-
Neuromuscular disorders
–Cerebral palsy
–Poliomyelitis
–Myelomeningocele
–Peripheral neuropathy
–Focal cerebral lesions (Sturge-Weber
syndrome)
–Stroke (due to coagulopathies, sickle cell disease)
-
Hemophilia (bleeding into a joint)
-
Reflex sympathetic dystrophy (RSD)
-
Congenital syphilis
-
Absence or hypoplasia of thumb and radius (Holt-Oram syndrome, TAR syndrome)
Workup and Diagnosis
- History
–Past medical and surgical history
–Constitutional symptoms (fever, fatigue, weight loss)
–Family history of similar disorder
- Physical exam
–Joint exam should include erythema, warmth, swelling, hyperflexibility, decreased range of motion, tenderness including pain localized to bone
–Leg-length discrepancy can be measured from symphysis pubis to lateral malleoli while patient is supine or by putting blocks of various thickness under the short leg until pelvis is leveled
–Dysmorpic features, skin lesions
–Neurologic exam for muscle weakness, decreased tone, reflexes, mental status
- Labs
–Infectious and inflammatory markers such as CBC, ESR, CRP, viral or bacterial titers and/or cultures; tumor markers; chromosomal analysis and genetic markers
–Radiologic evaluation as indicated by history and physical exam to find abnormalities in any part of musculoskeletal system (lytic lesions, soft tissue and joint swelling)
–Bone age
–Leg lengths measured by teleoroentgenogram,
orthoradiograph, scanogram, or CT
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Marfan syndrome:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Because no specific test confirms Marfan syndrome, diagnosis is based on typical clinical features (particularly skeletal deformities and ectopia lentis) and a history of the disease in close relatives. Useful supplementary procedures, though not definitive for diagnosis, include X-rays for skeletal abnormalities and an echocardiogram to detect aortic root dilation.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Scoliosis:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
CONFIRMING DIAGNOSIS Anterior, posterior, and lateral spinal X-rays, taken with the patient standing upright and bending, confirm scoliosis and determine the degree of curvature (Cobb method) and flexibility of the spine.
A scoliometer can also be used to measure the angle of trunk rotation. Physical examination reveals unequal shoulder heights, elbow levels, and heights of the iliac crests. Muscles on the convex side of the curve may be rounded; those on the concave side, flattened, producing asymmetry of paraspinal muscles.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Salivation, increased [Polysialia, ptyalism]:
History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))
A patient who complains of increased salivation may have overproductive salivary glands or difficulty swallowing. To distinguish these, first test for a gag reflex and observe the patient’s ability to swallow and chew. Is he drooling? Is his chewing uncoordinated? An impaired gag reflex, drooling, and chewing incoordination suggest difficulty swallowing. Does he have related signs and symptoms, such as fatigue, fever, headache, or a sore throat? Ask about exposure to industrial toxins, such as mercury. Is the patient taking any medications? Note especially use of iodides, cholinergics, and miotics.
Inspect the mouth and mucous membranes for lesions. If present, are they painful? Put on gloves and palpate the lesions, which may be suppurative or infectious. Describe them in your notes. Next, inspect the uvula, gingivae, and pharynx. Palpate the lymph nodes, and determine if the parotid glands are swollen or sore.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
Scoliosis:
Diagnosis
(Handbook of Diseases)
Anterior, posterior, and lateral spinal X-rays, taken with the patient standing upright and bending, confirm scoliosis and determine the degree of curvature (Cobb method) and flexibility of the spine. (See Cobb method for measuring angle of curvature.) A scoliometer can also be used to measure the angle of trunk rotation.
A physical examination reveals unequal shoulder heights, elbow levels, and heights of the iliac crests. Muscles on the convex side of the curve may be rounded; those on the concave side, flattened, producing asymmetry of paraspinal muscles.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Salivation, increased:
History
(Signs & Symptoms: A 2-in-1 Reference for Nurses)
Ask the patient about related signs and symptoms, such as fatigue, fever, headache, or a sore throat. Also ask about exposure to industrial toxins such as mercury. Is the patient taking any medications? Note especially use of iodides, cholinergics, and miotics.
» READ BOOK EXCERPT ONLINE »
Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007
SCOLIOSIS:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Most causes of scoliosis will require only an x-ray of the spine to
clarify the diagnosis. An orthopedic consult should be obtained before any
further workup. Be sure to measure the leg length. If there are objective
neurologic signs, a neurologist should be consulted. A bone scan, MRI, or
computed tomography (CT) scan may be necessary in difficult diagnostic
problems.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
Teething:
Teething - DIAGNOSIS
(The 5-Minute Pediatric Consult)
The overall goal is to determine if the infant has any other signs or symptoms of another illness that would require additional investigation (e.g., fever 38.8°C [102°F], diarrhea, or irritability); avoid overdiagnosing teething, which might delay diagnosis of a more serious illness.
- Phase 1: Careful history and physical
- Phase 2: Workup of specific signs or symptoms that are not consistent with teething
- Phase 3: Provide relief of discomfort for the child who is teething.
» READ BOOK EXCERPT ONLINE »
Source: The 5-Minute Pediatric Consult, 2008
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