differential diagnosis i.neck ii.back iii.extremities iv.floppy infant syndrome

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Differential diagnosis I. Neck II.Back III.Extremities IV. Floppy infant syndrome

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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

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

Trauma

II. Back pain

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

Trauma

II. Back pain

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

Trauma

II. Back pain

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

Trauma

II. Back pain

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

Trauma

II. Back pain

Myalgias

Muscle pain may be associated with a multitude of viral and bacterial infections

Aches not limited to paravertebral muscles

Infections

Urinary tract infection

Back pain may be the primary complaint

A urine culture should be done

II. Back pain

Referred pain

Other infections must be considered in addition to urinary tract infections including:

• pneumonia

• appendicitis

• pancreatitis

• cholecystitis

Infections

Urinary tract infection

Back pain may be the primary complaint

A urine culture should be done

II. Back pain

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

Infections

II. Back pain

Osteomyelitis of vertebra

Localized tenderness present at a specific level

Spine held rigid because of muscle spasm

Systemic signs often absent

Infections

Iliac osteomyelitis, sacroiliac joint infection

Frequently confused with appendicitis or septic arthritis of hip

II. Back pain

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

Infections

II. Back pain

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

Infections

II. Back pain

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

Infections

II. Back pain

Brucellosis

Small abscesses may develop in vertebrae

Generally associated with widespread lymphadenopathy

Infections

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

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

Neoplastic disorders – Benign tumors

II. Back pain

Benign osteoblastoma

Symptoms similar to those of osteoid osteoma, but larger lesion and less adjacent bone density seen on radiograph films

Neoplastic disorders – Benign tumors

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

Aneurysmal bone cyst

Cystic expansile lesion in a vertebra may cause neurologic symptoms

Neoplastic disorders – Benign tumors

Neuroenteric cysts

Signs of cord dysfunction present

II. Back pain

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 bowel dysfunction, localized tenderness and scoliosis

Deformity of foot such as cavus or cavovarus – frequent presenting complaint

Neoplastic disorders – Malignant tumors

II. Back pain

Ewing sarcoma Osteogenic sarcoma

Neoplastic disorders – Malignant 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

Neoplastic disorders – Metastatic 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

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

Neuropathies

II. Scoliosis – Structural causes Neuromuscular origin

Myelomeningocele Lesion may be obvious or occult May be present:

Overlying skin defects Lower extremity weakness Neurologic changes Bladder and bowel difficulties

Neuropathies

II. Scoliosis – Structural causes Neuromuscular origin

Spinal cord injury Scoliosis will develop in almost 50% of patients

Neuropathies

Syringomyelia Scoliosis may be a presenting sign before sensory changes are

noted

II. Scoliosis – Structural causes Neuromuscular origin

Diastematomyelia May be cutaneous defects or changes over the site of the bony

abnormality

Neuropathies

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

Charcot-Marie-Tooth disease Atrophy of peroneal muscles gives a stork leg appearance Progressive weakness affects lower and, later, the upper

extremities

Neuropathies

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

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

II. Kyphosis and lordosis

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

Kyphosis

Myelomeningocele

Kyphotic defects may be present at birth secondary to vertebral disruption

May develop later associated with muscle weakness

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

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 - Skeletal dysplasias

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

Kyphosis

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