A CASE OF SHORT NECK

PROF.S.TITO’S UNIT

Perumal a 45 yr old male admitted with c/o difficulty in using both lower limbs

-2 years duration

c/o giddiness on getting up -1 week

Presenting history

Onset was gradual in onset progressive in nature followed by unable to drive rickshaw

• No h/o motor,sensory,involuntary movts of upper limb

• h/o suggestive of proximal and distal muscle weakness of lower limb

• h/o tightness of all four limbs• No h/o wasting or fasciculations• No h/o involuntary movements

• No h/o diff in passing through narrow pathways• No h/o sensory disturbancces• h/o diff in walking in darkness,&face wash• No h/o olfactory, visual disturbances• No h/o motor and sensory abnormalities of face• h/o change of voice -3months• No h/o other cranial nerve disturbances• No h/o bladder,bowel and other autonomic

disturbances

• PAST HISTORY; No h/o DM,HT,TB h/0 trauma falling from height present treated as IP in hospital 2 months records not available at 2 yrs of age.

• Personal history; occ.smoker,alcoholic• Family history; no h/o any relevant illness

GENERAL EXAMINATION

• Pt conscious,oriented,not anaemic not jaundiced,no cyanosis,no clubbing ,no gla.

• Height:neck ratio 19:1• Webbing of neck• Low hair line• sprengel’s anomaly• Left hemiatrophy• Restricted neck movts on side to side• Prominent epiglottis on opening mouth• Mirror movements-synkinesia• Pulse 70/mt,BP102/66 mmhg

SHORT NECKLOW HAIRLINE

PROMINENT EPIGLOTTIS

LT.HEMIATROPHY

synkinesia

Mov02377.mpg

• HMF-NORMAL• Cranial nerves;1,2,3,4,,6,7-normal 5th nerve – lt side diminished cor reflex

dim. touch sensation with brisk jaw jerk8th nerve conductive deafness lt side 9&10 nerves gag reflex diminished 11th nerve normal 12th nerve normal

Motor systemRt side Lt.side

BULK NORMAL DECREASED

TONE SPASTICITY SPASTICITY

POWER -UPPER LIMB 4+ 4

LOWER LIMB 4+ 4

DEEP TENDON REFLEXES EXAGGERATED EXAGGERATED

PECTRALIS JERK BRISK BRISK

TRAPEZIUS JERK BRISK BRISK

PLANTAR EXTENSOR EXTENSOR

GAIT SPASTIC GAIT

Superficial reflexes –abdominal and cremasteric reflex present

Spastic gait

Sensory system

• Pain and temperarure-normal• Joint position and vibration sense diminished

in all four limbs incl.vertebral• Romberg’s sign positive

CEREBELLUM

• No nystagmus• Finger nose,figer-finger-nose defective Lt.side• No Dysdiaadokinesia,slurring of speech

present• Heel-shin test positive-lt side• Tandem walking-defective

INVESTIGATIONSCBCR NORMAL

BLOOD-UREA 21mg/dl

sugar 75mg/dl

creatinine 0.6mg/dl

URINE-routine normal

ECG normal

ECHO normal

USG-ABDOMEN normal

X-RAY CHEST normal

OPTHAL-FUNDUS normal

AUDIOMETRY LT SIDE-MIXED TYPE DEAFNESS RT.SIDE-MILD SENSORY DEAFNESS

Basilar Angle

Chamberlain`s line

CHAMBERLAIN’S LINE -joins posterior tip of hard palate to posterior rim of foramen magnum dense 3.6mm below it-Basillar invagination

Mcgregor`s Line

MCGREGOR’S LINE (Basal line)-Joins hard palate to lowest point of occipital boneTip of dens should not exceed 5 mm above this line

Height Index Of Klaus

HEIGHT INDEX OF KLAUS – dense to tuberculam line < 30basillar invagination

McRae`s Line

McRae’s LINEJoins anterior and posterior edges of foramen magnum: sagittal diameter of foramen magnum. (Avg – 35mm);dense below the line

foramen stenosis

Clivus Canal Line

MRI LS SPINE

DIAGNOSIS

KLIPPEL FEIL SYNDROME

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

CLASSIFICATIONFeil’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

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

FEIL’S TRIAD

1. Low posterior hair line2. Short neck3. Limitation of head and neck movements /

decreased range of motion in cervical spine

CLINICAL FEATURES

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

• torticollis due to contracture of sternocleidomastoid muscle or bony abnormalities

• Facial asymmetry• Sprengel deformity/ high scapula• Scoliosis and/or kyphosis

CLINICAL FEATURES CONTD..

• 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

CLINICAL FEATURES CONTD..

• 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

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.

TREATMENT

• Medical therapy depends on the congenital anomalies present in the syndrome.

• Referrals to• Nephrology• Urology• Cardiology• ENT may be needed because of the associated

anomalies• NEUROSURGEON

TREATMENT• 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

THANK YOU