Acase of Klippel feil syndrome

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AN INTERESTING CASE Dr. Panneer.A Unit Presenter: Dr.M.Ramesh Babu

Transcript of Acase of Klippel feil syndrome

Page 1: Acase of Klippel feil syndrome

AN INTERESTING CASEDr. Panneer.A Unit

Presenter: Dr.M.Ramesh Babu

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HISTORY

• Mr.X, 58 yrs old male.• C/O- Burning sensation over lateral aspect of the

RT. arm & Numbness over the LT. arm – 8 months.• Tightness/ Heaviness of all 4 limbs• No h/o Neck pain or Shoulder joint pain • H/o restriction of neck movements -since childhood• No h/o s/o HMF / cranial nerve involvement• No h/o s/o sensory or cerebellar involvement• No h/o bladder/ bowel involvement• No h/o LOC, seizures, fever• No h/o trauma• No significant past history / family history

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• O/E• Conscious and cooperative• Vitals stable , no pallor• Short stature – 152 cm , moderately nourished• Low hairline , Height neck ratio- 19:1• webbing of neck + , No Torticollis • No Neurocutaneous markers• Higher mental functions- Normal• Cranial nerve examinaton – Normal• Motor system-• wasting- dorsum small muscles of the LT. hand• Hypertonia all 4 limbs• No clonus• Muscle power –• Upper limbs – 5/ 5 B/L• Lower limbs – 5/ 5 B/L

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Reflexes – B/L DTR briskB/L plantar equivocal

Hoffman’s - + B/LSensory – graded sensory loss LT.arm 20-30% for touch, pain and temp.RT. arm - normalRomberg’s sign –NegativeCerebellum – normalNo involuntary movementsGait- normalNo signs of meningeal irritationFundus- normalSpine and cranium- movements of neck restrictedNeck & upper Thoracic - kyphosis & scoliosis +Other systems - Normal

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VIDEO

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• Provisional Diagnosis

• spastic quadriparesis

• Low hair line

• Short neck / web neck

• Restriction of neck movements

• CV Junction Anomaly

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Xray C spine

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Investigations

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MRI

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MRI

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Final diagnosis

• CV Junction Anomaly- Klippel feil syndrome

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KLIPPEL FEIL SYNDROME

• Congenital fusion of cervical vertebrae• Failure of normal segmentation of the cervical

vertebrae/somite between 3rd and 8th weeks of fetal development (rather than a secondary fusion)

• Maurice Klippel and Andre Feil – 1912• Incidence – 1 in 42,000 births ; more in females• Autosomal dominant inheritance – C2-C3 fusion.

Autosomal recessive – C5- C6 fusion• FEIL’S TRIAD :• Low posterior hair line• Short neck• Limitation of head and neck movements /

decreased range of motion in cervical spine

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CLASSIFICATION

Feil’s classification• Type I – massive fusion of many cervical and upper thoracic

vertebrae with synostosis• Type II – fusion of only 1 or 2 vertebrae (with hemivertebrae ,

scoliosis, occipito atlantoid fusion)• Type III – presence of lower thoracic and upper lumbar spine

anomalies with I/II• Type IV – sacral agenesisSamartzis’s classification (2006)To clarify prognosis• Type I – single congenitally fused cervical segment• Type II – multiple non-contiguous fused segments• Type III – multiple contiguous fused segments

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Clinical features

• Patients with upper cervical spine involvement tend to present at an earlier age than those whose with lower cervical spine involvement

• Rotational loss and lateral bending is usually more pronounced than loss of flexion and extension because latter movements take place mostly between occiput and atlas

• Scoliosis – some patients congenital due to involvement of thoracic spine , others scoliosis compensatory to cervical scoliosis

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• Webbing of soft tissues on each side of the neck (extending from mastoid process to acromion of shoulders)- ‘pterygium colli’

• Assocd torticollis due to contracture of sternocleidomastoid muscle or bony abnormalities

• Facial asymmetry

• Sprengel deformity/ high scapula

• Scoliosis and/or kyphosis

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• Musculoskeletal sys- cervical rib, congenital fusion of ribs,

abnormal costovertebral joints, syndactyly, hypoplastic

thumb, supernumerary digits, hypoplasia of pectoralis major,

hemiatrophy of upper or lower limbs, CTEV, sacral agenesis

• Urinary tract abnormalities – agenesis of kidney, horseshoe

kidney, hydronephrosis, tubular ectasia, renal ectopia,

double collecting system

• Cardiovascular- VSD, PDA, coarctation of aorta, patent

foramen ovale

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• Deafness (absence of auditory canal and microtia)

• Synkinesia- involuntary paired movements of the hand (

mirror movements)

• Neurologic deficit- facial nerve Palsy, rectus muscle palsy,

ptosis of eye, cleft palate, etc

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Radiological findings

• Cervical spine routine x-ray followed by flexion/extension lateral X-rays. These may show flattening and widening of vertebrae, hemivertebrae or block vertebrae, instability.

• MRI with head flexed and extended will most accurately access subluxation and cord compression along with cord anomalies.

• Wasp-waist sign- anterior concave indentation at the site of the absent or fused interspace between the fused vertebrae.

• In the young child (<5y) the fusion is more apparent in the posterior elements.

• X-rays of the T-spine because of extension of synostoses below the neck.

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Treatment

• MANAGEMENT OF REDUCIBLE DEFORMITIES

• Primary goal is stabilization

• reducing the compression on brainstem and spinal cord

• MANAGEMENT OF IRREDUCIBLE DEFORMITIES

• Decompression

• VENTRAL AND DORSAL APPROACHES WITH FIXATION IF NEEDED

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• Minimally involved patients lead normal lives with only minor restrictions.

• Should avoid contact sports that place neck at risk.

• For mechanical symptoms, cervical collar, analgesics, NSAIDS, or careful traction can be used.

• For neurologic compromise a thorough work-up to find the exact area of irritation, then fusion of the appropriate segments posteriorly. Decompression may be employed based on the site of the stenosis.

• Dislocations and basilar invagination are treated by careful traction followed by posterior fusion.

• Neurologic deficits and persistent pain are indications for surgery

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THANK YOU