Differential diagnosis
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Transcript Differential diagnosis
Differential diagnosis
I.
Neck
II. Back
III. Extremities
IV. Floppy infant syndrome
II. Back pain
requires careful evaluation if lasts more than 1 to 2 weeks (in
child)
usually the result of a serious underlying disorder including
psychogenic back pain which is often difficult to manage
II. Back pain
in the past, unlike adults, children were thought to
uncommonly have back pain related to psychogenic causes
children with acute or short-lived back pain: more likely to
have muscle and ligamentous strain or pain associated with
systemic viral infection
II. Back pain
History should include:
location
duration
radiation
character of pain
illness or activity preceding its onset
Interference with normal daily & recreational activities should
be determined
II. Back pain
Examination should seek other signs such as :
abnormalities in gait
configuration of the back (subtle changes in contour may
offer localizing clues)
tenderness on palpation
II. Back pain
Skin overlying spine should be carefully inspected for:
dimples
tufts of hair
hemangiomas
other cutaneous changes
Any cutaneous changes may denote developmental defects
II. Back pain
Lesions causing back pain may also produce neurologic
changes in extremities or bladder or bowel dysfunction
Signs of neuromuscular disease should also be sought
II. Back pain – Most common causes
Hyperlordotic mechanical back pain
Ligamentous or muscle strain
Spondylolisthesis
Myalgias
Psychogenic
Spondylolysis
Scheuermann disease
II. Back pain – Causes not to forget
Herniated disc
Spinal dysraphism
Urinary tract infection
Spinal cord tumors
Diskitis
II. Back pain
Trauma
Lordotic mechanical back pain
Reputed to be a common cause in adolescent athletes
Pain:
• only in lumbar area
• variable hyperextension or hyperflexion testing
• inability to fully flex the spine forward
II. Back pain
Trauma
Lordotic mechanical back pain
Kyphosis of thoracic spine present in compensation for
decreased forward mobility of lumbar spine
Some have suggested contractures at the facet joints as site of
pain
II. Back pain
Trauma
Ligamentous or muscle strain
History of fall, unusual exercise or other forms of trauma
should be sought
There may be localized tenderness and paravertebral muscle
spasm
Strain – probably the most common cause of back pain but it
should be short-lived
II. Back pain
Trauma
Prolapse of intervertebral disc
Uncommon lesion in children
Almost always a history of injury
Lower lumbar area – usually involved
Pain may be local or radiate to the legs
Abnormal straight-leg-raising test – most common physical
finding
II. Back pain
Trauma
Slipped vertebral apophysis
May occur after strenuous activity or heavy lifting
Signs of a herniated disc
A small bone fragment, edge of ring apophysis, may be seen
within spinal canal on imaging studies
Lower lumbar spine – most common site
II. Back pain
Infections
Myalgias
Muscle pain may be associated with a multitude of viral and
bacterial infections
Aches not limited to paravertebral muscles
Urinary tract infection
Back pain may be the primary complaint
A urine culture should be done
II. Back pain
Infections
Referred pain
Other infections must be considered in addition to urinary tract
infections including:
• pneumonia
• appendicitis
Urinary tract
infection
• pancreatitis
Back pain may
be the primary complaint
• cholecystitis
A urine culture
should be done
II. Back pain
Infections
Diskitis
Aching pain in lower back radiates to flanks, abdomen and
lower extremities
Young child may refuse to walk
Illness may be associated with low-grade fever, irritability and
lethargy
Limited back motion
II. Back pain
Infections
Osteomyelitis of vertebra
Localized tenderness present at a specific level
Spine held rigid because of muscle spasm
Systemic signs often absent
Iliac osteomyelitis, sacroiliac joint infection
Frequently confused with appendicitis or septic arthritis of hip
II. Back pain
Infections
Tuberculosis
Less common cause of back pain today
Dull local pain present over involved vertebrae
There may be a localized swelling
Destruction of vertebrae may cause pressure on spinal nerves
Stiff gait
Back held rigid
II. Back pain
Infections
Tuberculosis
Less common cause of back pain today
Dull local pain present over involved vertebrae
There may be a localized swelling
Destruction of vertebrae may cause pressure on spinal nerves
Stiff gait
Back held rigid
II. Back pain
Infections
Spinal epidural abscess
Generally exquisite pain and tenderness on palpation over the
site of abscess
Rapidly developing signs of spinal cord dysfunction such as
paraparesis, loss of bladder and bowel control and sensory
changes
II. Back pain
Infections
Brucellosis
Small abscesses may develop in vertebrae
Generally associated with widespread lymphadenopathy
Acute transverse myelopathy
Rare disorder
Preceded by upper respiratory infection
Back pain may be an early sign
Progressive weakness develops in 2 or 2 days
II. Back pain
Neoplastic disorders – Benign tumors
Osteoid osteoma
Gradual onset
Worse at night
Often relieved by aspirin
Palpation discloses localized tenderness
Radiographs reveal a small translucent area with surrounding
dense bone
II. Back pain
Neoplastic disorders – Benign tumors
Benign osteoblastoma
Symptoms similar to those of osteoid osteoma, but larger
lesion and less adjacent bone density seen on radiograph films
Eosinophilic granuloma
Usually only one vertebra involved with collapse
Intervertebral disc spaces maintained
Condition may be asymptomatic
May be backache and postural change
II. Back pain
Neoplastic disorders – Benign tumors
Aneurysmal bone cyst
Cystic expansile lesion in a vertebra may cause neurologic
symptoms
Neuroenteric cysts
Signs of cord dysfunction present
II. Back pain
Neoplastic disorders – Malignant tumors
Spinal cord tumors
Symptoms may be subacute or chronic
Most common: gliomas, neurofibromas, teratomas, lipomas
Developmental defects may be associated with cutaneous changes
Signs of cord compression with changes in gait, bladder and bowe
dysfunction, localized tenderness and scoliosis
Deformity of foot such as cavus or cavovarus – frequent
presenting complaint
II. Back pain
Neoplastic disorders – Malignant tumors
Ewing sarcoma
Osteogenic sarcoma
Neoplastic disorders – Metastatic tumors
Neuroblastoma
Wilms’ tumor
Leukemia and lymphoma
Pain not localized and may be fleeting
Rarely, spinal cord compression may occur producing typical
signs of spinal cord tumors
II. Back pain
Bone abnormalities
Scheuermann disease (vertebral osteochondrosis)
Produces a round-back deformity
Several vertebrae may be wedged anteriorly
Pathophysiologic mechanism thought to be prolapse of
nucleus pulposis into the vertebrae body, possibly due to
osteoporosis
Pain – common, usually located over the apex of kyphosis
II. Back pain
Bone abnormalities
Spondylolisthesis
Pain caused by anterior displacement of vertebrae
Usually L5 slides forward on S1
Sciatica, increased lumbar lordosis and tight hamstrings –
often present
II. Back pain
Bone abnormalities
Spondylolisthesis
Pain caused by anterior displacement of vertebrae
Usually L5 slides forward on S1
Sciatica, increased lumbar lordosis and tight hamstrings –
often present
II. Back pain
Bone abnormalities
Spondylolysis
Defect in pars interarticularis without vertebral slipping
Probably result of a stress fracture
Low-back pain – common, sometimes with radiation down
the leg
Pain increased by activity
II. Back pain
Bone abnormalities
Occult fractures
Trauma, sometimes minor, may result in fractures of pars
interarticularis or the transverse or spinous processes
May not be seen on plain radiographs
II. Back pain
Bone abnormalities
Osteoporosis
Fractures most likely to occur in osteoporotic bones present in
disorders such as Cushing synd., OI, homocystinuria, Turner
synd., malabsorption and immobilization
Idiopathic juvenile osteoporosis:
Onset between 8 and 14 years of age
Self-limited
II. Back pain
Bone abnormalities
Scoliosis
Almost always a painless disorder
When back pain present, underlying problem should be
sought such as infection, diskitis or tumor
II. Back pain
Psychogenic pain
Back pain may be associated with reaction to stressful
situations
Should always be considered if patient’s affect is
inconsistent with symptoms or if findings are
unexplainable
Careful history must be obtained
Psychogenic causes as cause of back pain seem to be on the
rise
II. Back pain
Miscellaneous causes
Sickle cell disease
Painful crises may be associated with back pain
Juvenile rheumatoid arthritis
Occasionally, cervical pain may be a presenting complaint
II. Back pain
Miscellaneous causes
Ankylosing spondylitis
Usually boys
Arthritis in hips or knees and loss of mobility of the back may
be found
Chronic hemolytic anemias
Signs of cord compression may result from extramedullary
hematopoiesis in extradural space
II. Back pain
Miscellaneous causes
Calcification of intervertebral discs
Localized back pain
Loss of mobility due to muscle spasm
Cause unknown
Fluffy calcification in the disc space on radiograph films may
not appear for 1 to 2 weeks following onset of pain
II. Back pain
Miscellaneous causes
Spinal dysraphism
Lesions such as fibrous bands, lipomas, etc., may cause a
tethered cord => back pain in addition to neurologic findings
in lower extremities and bladder problems
Clues to underlying problem should be sought by close
examination of the skin over spine for cutaneous
abnormalities
II. Back pain
Miscellaneous causes
Diastematomyelia
Developmental defect causes a cleft in the cord by bone,
cartilage or fibrous septum
Cutaneous abnormalities over affected area may be apparent
Low-back pain aggravated by cough or sneeze
Bladder dysfunction or slowly progressive weakness of legs –
earlier signs than back pain
II. Back pain
Miscellaneous causes
Arteriovenous malformation of cord
Symptoms usually slow to develop
Low-back pain – common, with progressive gait and bladder
or bowel dysfunction
May be a cutaneous angioma over the cord lesion
II. Back pain
Miscellaneous causes
Limb girdle dystrophy
Not a single disease entity but a group of dystrophies and
myopathies
Usually with autosomal recessive inheritance pattern
First symptoms usually appear during 2nd decade
Early sign: difficulty in climbing stairs or rising from the floor
- low-back pain may be the source of either complaint
Pseudohypertrophy sometimes present
Deep tendon reflexes difficult to elicit
II. Back pain
Miscellaneous causes
Paroxysmal cold hemoglobinuria
Most commonly seen after viral infections
After cold exposure, child experiences back or abdominal
pain, followed by chills, fever and hemoglobinuria
Multiple epiphyseal dysplasia
Most prominent symptom: painful joints – usually hips, knees
and ankles – with decreased mobility
Frequent back pain
Gait may be waddling
II. Scoliosis
Defined as a lateral curvature of the spine from its normal
straight position
Rotational deformity of spine present as well
Many children have an inconsequential curvature of less than
10° to 15 °
True scoliosis worrisome because of the possibility of
progression during growth to a degree that might affect
cardiopulmonary function
Described by the direction of convexity of the curve
Right thoracic and left lumbar scoliosis = most common
pattern in idiopathic scoliosis
II. Scoliosis
Prevalence of scoliosis with curves >10° in adolescents
estimated to be 2% to 3%
Idiopathic scoliosis comprises 60% to 80%of cases
Most children with idiopathic scoliosis require no therapy
Close follow-up recommended in order to detect undue
progression of curvature
Scoliosis in an adolescent is not necessarily idiopathic
May be a sign of an occult neuromuscular disorder or other
pathologic conditions
II. Scoliosis
Of importance in determining possible causes:
age at which scoliosis is noted
rapidity of development
Painful scoliosis should never be considered idiopathic in
adolescent
Adolescent with left thoracic kyphosis should be evaluated for
underlying pathology
Delayed developmental milestones may suggest
neuromuscular cause
II. Scoliosis – Most common causes
Idiopathic
Congenital vertebral defect
Leg length discrepancy
Neurofibromatosis
Neuromuscular disorder
II. Scoliosis – Nonstructural causes
Primary postural scoliosis
Condition most commonly seen in children between 10 and
15 years of age
Shoulders may be rounded
One hip may seem more prominent than the other
Apparent curvature disappears on forward flexion or on lying
down
II. Scoliosis – Nonstructural causes
Secondary postural scoliosis
Curvature = a result of other conditions, such as leg
discrepancy
Curve disappears on forward flexion
Hysterical scoliosis
Unusual type
Scoliosis not present on forward flexion
II. Scoliosis – Structural causes
Idiopathic scoliosis
Probably genetic cause in 90% of cases
Infantile scoliosis
Noted in the first 3 years of life
Rare in US
More common in boys than in girls
Curvature lessens with age in most cases
II. Scoliosis – Structural causes
Juvenile scoliosis
defined as scoliosis appearing in the 4- to 10-year-old age
group
Boys and girls equally affected
Adolescent scoliosis
Most common type occurring in children > 10 years of age
Girls outnumber boys ratio 5-7 : 1
Condition generally unnoticed until adolescent growth spurt
II. Scoliosis – Structural causes
Congenital scoliosis
May be associated with vertebral anomalies such as
hemivertebrae, wedge vertebrae, congenital bars or failure of
vertebrae segmentation
Other significant congenital defects may be present, such as
of the heart of genitourinary system or other bony
abnormalities
May be complicated by diastematomyelia, spinal lipomas, etc.
II. Scoliosis – Structural causes
Neurofibromatosis
Accounts for approx. 2% of cases of scoliosis
A slowly progressive curve similar to idiopathic variety
develops in half of these cases
Significant type: with a short, sharply angular curve in the
thoracic spine
Important cutaneous clues:
Café au lait spots
Axillary freckling
II. Scoliosis – Structural causes
Neuromuscular origin
Neuropathies
Cerebral palsy
Structural scoliosis occurs in 15% to 25% of children with CP
More commonly in the more severely affected, especially
those with spastic quadriplegia
II. Scoliosis – Structural causes
Neuromuscular origin
Neuropathies
Myelomeningocele
Lesion may be obvious or occult
May be present:
Overlying skin defects
Lower extremity weakness
Neurologic changes
Bladder and bowel difficulties
II. Scoliosis – Structural causes
Neuromuscular origin
Neuropathies
Spinal cord injury
Scoliosis will develop in almost 50% of patients
Syringomyelia
Scoliosis may be a presenting sign before sensory changes are
noted
II. Scoliosis – Structural causes
Neuromuscular origin
Neuropathies
Diastematomyelia
May be cutaneous defects or changes over the site of the bony
abnormality
Friedreich ataxia
Ataxia develops in 1st or 2nd decade
Hypoactive deep tendon reflexes
Pes cavus and kyphoscoliosis develop in almost all patients
II. Scoliosis – Structural causes
Neuromuscular origin
Neuropathies
Charcot-Marie-Tooth disease
Atrophy of peroneal muscles gives a stork leg appearance
Progressive weakness affects lower and, later, the upper
extremities
II. Scoliosis – Structural causes
Neuromuscular origin
Neuropathies
Juvenile spinal muscle atrophy
Onset of weakness ranges from early childhood to late
adolescence
Signs of this disorder often mistaken for muscular dystrophy
Poliomyelitis
Now an uncommon cause
Deformity occurs 1-2 years after the acute illness
II. Scoliosis – Structural causes
Neuromuscular origin
Myopathies
Duchenne-type muscular dystrophy
Scoliosis occurs later, particularly when patient is confined to
wheelchair
Nemaline myopathy
Limb-girdle muscular dystrophy
Onset of symptoms later than in the Duchenne type
Proximal muscle weakness > distal
II. Scoliosis – Structural causes
Neuromuscular origin
Myopathies
Arthrogryposis
Multiple contractures present at birth
Anterior horn cell loss may create muscle imbalance =>
leading to scoliosis
II. Scoliosis – Structural causes
Neuromuscular origin
Mesenchymal origin
Marfan syndrome
Almost 50% of affected children develop scoliosis in infancy
or early childhood
Features:
dislocated lens
spiderlike fingers and extremities
high arched palate
II. Scoliosis – Structural causes
Neuromuscular origin
Mesenchymal origin
Ehlers-Danlos syndrome
Hyperlaxity of joints and skin
Congenital laxity of joints
No skin hyperelasticity
II. Scoliosis – Structural causes
Neuromuscular origin
Trauma
Direct vertebral trauma
Fractures or wedging of vertebral bodies or nerve root
irritation may cause scoliosis
Irradiation
Destruction of the vertebral growth plates especially in
treatment of Wilms’ tumor, produces curvature later
Extravertebral trauma
Severe trunk burns or thoracic surgery may result in scoliosis
II. Scoliosis – Structural causes
Neuromuscular origin
Tumors
Intraspinal tumors
Various types of tumors may result in scoliosis
Sensory and motor changes in lower extremities and bladder
and bowel incontinence may also occur
Osteoid osteoma
Vertebral body tumors may cause paraspinal muscle spasm
and resultant scoliosis
Pain often worse at night and relieved by aspirin
II. Scoliosis – Structural causes
Neuromuscular origin
Miscellaneous causes
Vertebral body infection
Scoliosis may be associated with osteomyelitis, diskitis and
TB involvement of spine
Rickets
Scoliosis may develop late if condition untreated
Features: epiphyseal enlargement, bowing of long bones,
growth retardation, apathy, muscle weakness
II. Scoliosis – Structural causes
Miscellaneous causes
Osteogenesis imperfecta
Collapse of vertebrae following fractures may result in
scoliosis
Scheuermann disease
Causes adolescent round back deformity
Rarely causes scoliosis
II. Scoliosis – Structural causes
Miscellaneous causes
Achondroplasia
25% of affected children will develop scoliosis in late
childhood
Klippel-Feil syndrome
Short neck with decreased movement – typical
Cervicothoracic scoliosis may also be present
II. Scoliosis – Structural causes
Miscellaneous causes
Sprengel deformity
Congenital high scapula almost always associated with
cervical or thoracic spine abnormalities
Cleidocranial dyotosis
Features hypoplastic or absent clavicles, large head with
delayed closure of fontanel and a narrow chest
II. Scoliosis – Structural causes
Miscellaneous causes
Hyperphosphatasia
Condition characterized by fever, pain and bone fragility with
frequent fractures
Short stature
Thickened limb bones
Bluish sclerae
II. Scoliosis – Structural causes
Miscellaneous causes
Hypervitaminosis A
Features include dry skin, thickened bones
Often increased intracranial pressure
Hypothyroidism
Congenital indifference to pain
Juvenile rheumatoid arthritis`
II. Scoliosis – Structural causes
Miscellaneous causes
Mucopolysaccharidoses
In type VII progressive scoliosis may be the initial presenting
sign
Hepatosplenomegaly, short neck and cloudy corneae develop
gradually
Type VI (Maroteaux-Lamy) also has scoliosis as a clinical
feature
II. Scoliosis – Structural causes
Syndromes associated with scoliosis
Scoliosis has been described in a number of malformation
syndromes
Other features of these syndromes – more striking than
scoliosis
Syndromes associated with scoliosis
Aarskog synd.
Camptomelic dwarfism
Cohen synd.
Cri du Chat synd.
Fetal trimethadione synd.
Hallermann-Streiff synd.
Larsen synd.
Noonan synd.
Proteus synd.
Rubinstein-Taybi synd.
Stickler synd.
XXXXY karyotype
Basal cell nerve synd.
Coffin-Lowry synd.
Diastrophic dwarfism
Freeman-Sheldon synd.
Klinefelter synd.
Metaphyseal dysplasia (Pyle disease)
Prader-Willi Synd.
Rett synd.
Seckel synd.
(Bird-Headed dwarfism)
Turner synd.
XXY karyotype
II. Scoliosis – Transient structural
Inflammation
Lateral curvature can be produced by irritation from empyema
or a perinephric abscess
Torticollis
Sciatic scoliosis
Pressure of an intervertebral disk on nerve roots may produce
a scoliosis
II. Kyphosis and lordosis
II. Kyphosis and lordosis
Curvature of spine may occur in anterior (lordosis) & posterior
(kyphosis) directions
Most children with these conditions have postural deformities
Pathologic or fixed deformities may result from various
disorders
Lordosis – normal in young children, but should no longer be
present my mid-childhood
Kyphosis
Poor posture
Accounts for most cases of kyphosis, especially in
adolescence when concern about appearance is prevalent
Postural kyphosis – not fixed
Can be easily corrected by finding appropriate method of
encouragement or exercises
Kyphosis
Scheuermann disease (juvenile kyphosis)
Poorly understood disorder
Usually develops around puberty
Poor posture
Apparent round back deformity
Fatigue & discomfort in area of kyphosis – common, on
standing
Kyphosis
Scheuermann disease (juvenile kyphosis)
Full correction cannot voluntarily be obtained
On radiographs: wedged-shaped appearance of one or more
vertebrae due to diminished anterior height
Cause – unknown
Lumbar lordosis – often accentuated
Kyphosis
Congenital kyphosis
Noted in infancy
Usually progresses with age, especially when child begins to
walk & stand
Caused by a structural abnormality of spine apparent on
radiographic examination
Painless in childhood
May become painful during adolescence & adulthood
Compression of spinal cord may occur
Kyphosis
Neuromuscular problems
Almost any neuromuscular disorder may cause spinal
deformities in a growing child
CP, post traumatic paralysis, spinal muscular atrophy,
myotonic dystrophy, poliomyelitis
Myelomeningocele
Kyphotic defects may be present at birth secondary to
vertebral disruption
May develop later associated with muscle weakness
Kyphosis
Infection
Destruction of vertebrae from infectious causes may lead to
kyphosis
Spasm of paravertebral musculature may be responsible for
abnormality
Tuberculosis – archetypical cause, but much less common
today
Tuberculosis spondylitis (Pott disease) – often insidious in
onset
May affect any level of spine
Kyphosis
Skeletal dysplasias
A host of skeletal disorders may involve vertebral column &
produce kyphosis
Radiographic skeletal survey helps to differentiate various
types
Kyphosis - Skeletal dysplasias
Spondyloepiphyseal dysplasia
Mucopolysaccharidoses
• Kyphosis especially likely to be a finding in Hurler synd. (type
I), Morquio synd. (type IV), Maroteaux-Lamy synd. (type VI)
and type VII
Kyphosis - Skeletal dysplasias
Diastrophic dwarfism
Diaphyseal dysplasia (Engelmann disease)
Kniest dwarfism
Achondroplasia
Cleidocranial dysotosis
Cockayne syndrome
Neurofibromatosis
Noonan syndrome
Kyphosis
Metabolic & endocrine disorders
Hypothyroidism
Gaucher disease
Ehlers-Danlos syndrome
Marfan syndrome
Homocystinuria
O.I.
Juvenile osteoporosis
Kyphosis
Tumors
Kyphosis bay be caused by benign or malignant, either
primary or metastatic tumors
Intraspinal tumors must always be considered
Iatrogenic kyphosis
Radiation therapy
• damage to vertebral growth plates may follow, resulting in
kyphosis
Kyphosis
Iatrogenic kyphosis
Surgery
• Surgical removal of parts of vertebral column may lead to
kyphosis
Miscellaneous
Familial dysautonomia
• Scoliosis & kyphosis – common
• Other symptoms & signs predominate including unexplained
fever, aspiration, other signs of autonomic nervous system
dysfunction
Lordosis
Physiologic lordosis
Exaggerated lumbar lordosis – common in toddlers
Compensatory posture
Compensatory lumbar lordosis frequently accompanies
kyphotic disorders such as Scheuermann disease
Pes planus
Lordosis may be an adaptive mechanism for individuals with
flat feet to keep stable stance
Lordosis
Neuromuscular disorders
Lumbar lordosis - prominent & progressive in muscular
dystrophy
Often accompanies CP, spinal injuries with paralysis,
poliomyelitis
Lordosis
Spondylolisthesis
Slipping forward of vertebral column at lumbosacral junction
can be
• secondary to congenital sacral defects
• result of trauma
• caused by developmental or acquired bone defects
Poor posture & increased lumbar lordosis may be the only
complaints
Backache, often with radiation don the legs, occurs in 2nd & 3rd
decades
Lordosis
Bilateral flexion contractures of hips
Increased pelvic inclination – result of hip flexion contractures
– produces a compensatory lumbar lordosis
Flexion contractures may occur in juvenile rheumatoid arthritis,
other hip dysplasias and CP
Myelomeningocele
Lordosis – most common spinal deformity
Compensatory in nature
Lordosis
Inflammatory processes
Spasm of paravertebral muscles from inflammatory processes in
spine may cause accentuated lordosis
Common features in diskitis:
• Inflammation of intervertebral disc space
• Symptoms of backache
• Pain radiating to the legs
• Occasionally, lower extremity muscle weakness
Lordosis
Skeletal dysplasias
Achondroplasia
• Exaggerated lumbar lordosis because of fixed flexion of hips
and some thoracolumbar kyphosis
Cleidocranial dysostosis
• Major features include a large head with delayed closure of
anterior fontanel & hypoplastic clavicles
Spondyloepiphyseal dysplasias