Case Presentation 31/01/2015 Chief Complaints 18 year old boy, - - PowerPoint PPT Presentation

Case Presentation

31/01/2015

Chief Complaints

18 year old boy, student in 12th std, right handed

• H/O sub-occipital headache with neck pain -

5years.

• Jerky movements of both eyes - 5years.
• Tingling and paresthesia's in all 4 limbs - 3 years
• Weakness and Thinning of bilateral upper limbs

right>left - 18months.

• Painless burns on upper limbs - 18months.
• Difficulty maintaining balance while walking

with stiffness of bilateral lower limbs - 1year.

• Nasal regurgitation of liquids with nasal

intonation of speech - 6months

History of presenting illness

• Localized sub-occipital pain – 5years
• Continues

localized sub-occipital region

• ccasionally radiating upward.
• Aggravation on coughing ,straining for stools
• Neck pain on looking either side or turning head

to either side.

• Difficulty in rotating his neck – 5years

• Jerky up and down movement of eyes -

5years

• Tingling sensation with burning sensation

upper limbs and lower limbs - 3years.

• Started over the shoulders spread

proximal to distal.

• Difficulty

in maintaining balance with tendency to fall and giddiness on closing eyes

• 3years.
• Has cotton wool sensation on his feet while

walking.

• Not able to sense the position of the limbs

while lying on the bed.

• Difficulty in lifting heavy weights - 18months.
• Difficulty in writing, mixing food, eating chapathi, buttoning

and unbuttoning.

• Thinning of his right arm and then forearm- 18months.
• Hands thinner and bony prominences at his wrist and hand

prominent and hollowing of right palm.

• Spontaneous twitching in his arms and chest regions more so
• n the right side.
• Right hand fingers are kept flexed and stiff - 6month

• Deep-seated constant burning pain bilateral upper

limbs worsened by coughing - 18months.

• Decreased sensation of hot and cold in bilateral

upper limbs and upper chest until nipples.

• Painless burn - 6months back
• No pain even on pricking with pins over his upper

limbs.

• Stiffness and tightness of both lower limbs - 1year.
• Difficulty in getting up from squatting position.
• Lower abdomen has become stiff and tight.
• Urinary urgency and frequency - 6 months.

• Hoarseness of voice and nasal intonation of the

speech - 6 months

• Nasal regurgitation of liquids and cough while having

food.

• Drooping of right shoulder and deviation of neck

towards the left side with chin pointing towards right

• 6 months
• Neck tilt with head leaning to left side.

Negative history

• No h/o drop attacks or sudden giddiness while turning head.
• No h/o thinning or twitching of lower limbs.
• No h/o headache, seizure, loss of consciousness,

disorientation or behavioral disturbances.

• No h/o blurring of vision, field cuts, double vision, drooping of

eyelids or protrusion of eyes.

• No h/o facial sensory loss, deviation of jaw, difficulty in

chewing food, redness or dryness of eyes.

• No h/o facial asymmetry, drooling of saliva or difficulty in

closing eyes completely.

• No h/o tinnitus or hearing loss.
• No h/o deviation or thinning of tongue.
• No h/o fever, TB or contact with TB.
• No h/o skin patches or swelling in any part of the body.

• Family history: no similar illness in any of the family

members.

• Past history: Patient born to non-consanguinously

marrried parents by FTND without any perinatal insults, had normal motor, social and language development in childhood.

• Personal history: No significant past medical or

surgical illnesses. Non smoker, non alcoholic Diet is mixed with normal appetite.

Analyzing history :

• Sub-occipital headache with cough headache * 5years
• Neck pain with restriction * 5years
• Burning paresthesia with loss of position sense in both

UL and LL * 3years

• Weakness and wasting of both upper limbs RT>Lt * 1 ½

years

• Bilateral UL funicular pain with loss of pain and

temperature sense and painless burns * 1 ½ years

• Stiffness and tightness of both LL * 1year
• Urinary urgency and frequency * 6months
• Nasal regurgitation of liquids with hoarse voice *

6months

• Drooping of right shoulder and deviation of neck *

6months

Sub-occipital cough headache: The most common causes

• Chiari type I malformation(65%)
• Posterior fossa lesions(15%)
• Obstructive hydrocephalus
• spontaneous low cerebrospinal fluid pressure

(CSF). Pathophysiology: occlusion of CSF flow across FM with sudden rise of ICP

Neck pain with restriction of neck movements : Extradural pathology

• Congenital
• Degenerative
• Infectious
• Traumatic
• Malignant
• With the abovementioned associated history

tonsillar herniation/foramen magnum lesions.

Nystagmus

• Downbeat nystagmus
• Downbeat nystagmus may be present in primary

position, usually accentuated in downgaze (especially downgaze to either side). Alexanders law

• Localization- cervical-medullary junction.

Downbeat nystagmus (differential diagnosis)

• 1. Arnold-Chiari type I malformation(most

common)

• 2. tumors (meningioma, cerebellar

hemangioblastoma) at the foramen magnum

• 3. cranial trauma
• 4. platybasia
• 5. basilar impression
• 6. syrinx of the brainstem or upper cervical

spinal cord

• 7. idiopathic

Burning paresthesia with loss of position sense:

• Indicating Posterior column involvement

Other causes paresthesia's

• From neuropathies to thalamic and functional

syndromes

Weakness and wasting in upper limbs:

• Proximal to distal.
• LMN wasting with fasciculation from C5 to T4 region.

Suggestive intramedullary localization.

Bilateral UL funicular pain with loss of temperature and pain sense in UL along with painless burns:

• Suggesting tract pain (dysesthetic)
• Spinothalamic tract involvement.

Stiffness and tightness of bilateral lower limbs

• Difficulty in getting up from squatting, slipping of

slippers, stiff and tight lower limbs with difficulty maintaining balance while walking and tendency to fall forwards

• Hypertonia
• CST involvement in lower limbs above L1
• Intramedullary- proximal to distal

Urinary urgency and frequency

• associated with other UMN findings in

lower limbs

• No features suggestive of urinary tract

infection.

Nasal regurgitation, hoarseness with nasal intonation of voice + drooping of right shoulder – LCN involvement.

• nerve vs nuclear
• Nuclear associated with facial sensory loss if

intramedullary.

• Nerve involvement possible

Substrates involved

• Cervical Posterior column
• LMN/ anterior horn cells in cervical cord (upper cervical to

mid dorsal).

• Spinothalamic involvement - upper cervical to mid

thoracic.

• CST involvement of lower limbs below mid dorsal above L1.
• LCN involvement IX X and CN XI
• Autonomic fibres
• Mechanical restriction , Cervico-medullary compression

(downbeat nystagmus)

• Location: High cervical with lower medulla.
• Upper extent lower brainstem.
• Lower extent atleast upto upper thoracic

(fasciculations).

• Plane of lesion: ?Intramedullary (odd point –

pain, delayed bladder)

• Possibility –
• 1. ACM with syrinx with CVJ bone anomaly.
• 2. foramen magnum lesions(?Posteriorly

located) associated syrinx/edema.

• 3. Intramedullary from lower brainstem to mid

thoracic (odd- pain)

On examination

• Middle aged male patient, moderately built and

nourished, afebrile

• Pulse 84/min, regular with normal volume, bilaterally

symmetrical.

• BP 130/90 mm of Hg, in sitting and 126/90 standing(

to r/o orthostatic hypotension).

• CVS, RS, P/A – Within normal limits

• SBC 14
• Height 159 cm
• Weight 70 kg
• Neck-height ratio 15.5:1 – short neck.
• High arched palate +
• Low set ears
• Low hairline
• No skin patches or appendages.
• No subcutaneous nodules or other

neurocutaneous markers.

Higher Mental Functions

• Patient conscious, alert, with normal attention

span

• Oriented to time, place and person
• Normal immediate recent and remote memory
• Normal intelligence and insight
• No behavioral changes
• Speech normal- rrrc
• Signs of meningeal irritation not checked due to

doubtful CVJ pathology.

Cranial Nerve examination

• I - Olfaction normal bilaterally.
• II - V/A 6/9 bilaterally with normal fundus and field

examination.

• III, IV, VI - Pupils bilaterally equal and reactive on both

direct and indirect.

• No ptosis.
• Extra-occular movements are bilaterally in full range in all

cardinal gazes.

• Primary gaze: Downbeat nystagmus present, which gets

exaggerated on looking downwards.

• V – bilateral onion peel sensory loss to pain and

temperature, Right>left. Central sparing. Cornel reflex normal. No deviation of jaw or wasting of temporalis and normal touch sensation. Jaw jerk normal.

• VII – Normal facial contour without asymmetry of

forehead or face. Normal forehead furrows and nasolabial fold. Normal burying of eyelashes on forceful closure. taste- normal

• VIII – AC>BC b/l. with normal Rinnes, Webers and
• ABC. Local examination of ear and mastoid normal.

• IX,X – uvula is central, sagging and reduced

movements on telling “Ah”.

• Nasal intonation of speech present.
• No swelling near the pharyngeal pillars or

pooling of saliva.

• Gag reflex both pharyngeal and palatal -

impaired.

• XI – There is sagging of right shoulder

compared to left with flattening of shoulder contour.

• Sternocleidomastoid normal.
• Shrugging of shoulders normal. Forceful neck

movements not attempted.

• XII – Tongue central, symmetrical without

wasting or deviation.

Motor system:

• Deformities and wasting : right shoulder lower level ,

flattening of shoulder contour , hollowing of supraclavicular space and in suprascapular/paraspinal areas.

• Suboccipital muscle wasting present on either sides

right>left.

• Wasting and thinning in the shoulder, arm forearm and

hand muscles. clawing of all fingers.

• Fasciculation in chest and arm
• Healed wound over right forearm and waist due to burn

injury 6months back.

• Bulk:
• Difference of 3cm in bulk in arm and 2cm in forearm.
• Wasting of inter-metacatpal spaces, 1st interdigital webspace

and hollowing and flattening of both thenar and hypothenar

• eminences. Fasciculations present in arm forearm and over

the chest on right side.

• Tone-
• normal in upper limbs
• Increased in lower limbs
• No clonus

• POWER

Right Left Shoulders- FLEX, EXT, ADD, ABD 4/5 4+/5 Elbows – FEX, EXT 4/5 4+/5 Wrist - FEX, EXT 4/5 4+/5 Handgrip 60% 90% Hip - FLEX, EXT, ADD, ABD 4+/5 4+/5 Knees- FEX, EXT 4+/5 4+/5 Ankles- FEX, EXT 4+/5 4+/5 EHL 4+/5 4+/5

DTR

BJ TJ SJ Hoff man FFJ KJ AJ clonu s Right

• 3+

3+ Nil left

• 3+

3+ Nil

Sensory

• Loss of pain and temperature from C2 to D7 bilaterally,

right > left. Sparing of touch sensation in the same region.

• Vibration sense impaired from upto elbow, all

spines(preserved above lower cervical) and in lower limb.

• Joint position sense impaired in both UL and LL(upto

knee and elbow).

• Romberg’s test positive.

Superficial Reflexes

• Abdominal reflex absent in all quadrants
• Bilateral Cremasteric absent
• Bilateral Plantars extensor

Cerebellar

• FNF, FF impaired. Not conclusive(weakness,

posterior column).

• HSK test could not be tested.
• Nystagmus present – Downbeating.
• Speech- nasal intonation. No slurring.
• Stance slightly broad based
• Gait spastic ataxic gait.

Positive findings at the end of examination are

• Multiple congenital neck anamolies.
• Decreases SBC (high cervical compression).
• Onion peel sensory loss in face(sensory tract
• f trigeminal nerve).
• Involvement of LCN and XI th nerves.

• Dissociative sensory loss (spinothalamic) from C2 to D7

region(temperature and pain).

• Posterior column sensory loss.
• Wasting and weakness from C2 to D7 region with

hyporeflxia in UL (LMN) .

• Pyramidal signs in both lower limbs with hyperreflexia

and upgoing plantars(CST above L1).

• Downbeat nystagmus(cervicomedullary compression).

Additional points after examination

• Onion peel sensory loss (Feature of

IM)

• No horners syndrome.

Localization:

Remains the same

• Posteriorly located cervicomedullary

compression causing cervicomedullary syrinx.

• Cervicomedullary tumor (odd point is cough

headache and neck pain)

• Plane of lesion

INTRAMEDULLARY

Pathological possibilities

• ACM with cervicodorsal syrinx +/- synringobulbia.
• CVJ bony anamoly with soft tissue involvement.
• others
• Foramen magnum lesion coausing posterior

compression with syrinx/oedema

• Cervicomedullary Intramedullary lesion with

exophytic component causing neck pain and cough headache(odd long history, no early bladder).

Investigations required

• MRI Craniovertebral junction with MRI of whole

spine, MRI brain with CSF flow studies(cardiac gated phase contrast imaging).

• Xray CVJ lateral view with flexion and extension.
• CT CVJ.

Skull base angle:Angle formed by:

• line joining the nasion with the centre of the pituitary fossa.
• line joining the anterior border of foramen magnum with centre of the pituitary fossa.

normal: 125°-143° platybasia: > 143° basilar kyphosis: < 125°

20150005995

Diagnosis: Arnold-chiari malformation with cervicodorsal syrinx, associated with platybasia and basilar invagination, C2C3 klippel-fiel anamoly.

THANK YOU

Nystagmus is classified in multiple ways: Pendular(both phases of equal amplitude and velocity) versus jerk (a fast phase and a slow phase); central versus peripheral; induced versus spontaneous; and physiologic versus pathologic. Further characterizations include rapid/slow, coarse/fine, manifest/latent, sensory/motor, and horizontal/vertical. Pendular nystagmus is classified by its plane of movement, usually horizontal. Pendular nystagmus only rarely signifies neurologic disease. Jerk nystagmus is classified by the direction

• f the fast phase.

Grades of Nystagmus

First-degree nystagmus: only with eccentric gaze (e.g., right-beating nystagmus on right gaze). Second-degree nystagmus : in primary gaze and increases in intensity with gaze in the direction of the fast component (e.g.right beating nystagmus in primary gaze increasing with gaze to the right). Third-degree nystagmus : the fast component continues to beat even with gaze in the direction of the slow component (e.g., right beating nystagmus persisting even with gaze to the left). Dissociated nystagmus is different in the two eyes (e.g., the nystagmus in the abducting eye in INO).

Distal weakness in the upper limbs - opening jars, holding tightly to a pencil, typing, fingering a musical instrument, buttoning a shirt, or tying shoelaces. Proximal weakness in upper - difficulty in raising the arms or reaching for high

• bjects.

Weakness of lower limb muscles - walking, climbing stairs, walking on uneven surfaces, and stumbling over small objects. Muscle twitching (fasciculations) - anterior horn cells or proximal roots are involved. Sensory symptoms (eg pain, numbness, tingling or burning sensation) suggest involvement of roots, plexi, or peripheral nerves. Trophic changes - when small fibers of the peripheral nerve are involved or a defect in pain, temperature, or joint-position sensation is noted. Geographic preponderances of monomelic amyotrophy, polio, and leprous neuropathy. A history of affected family members may suggest genetic disorders such as spinal muscle atrophy (SMA) or a familial clustering due to infectious disease or environmental mechanisms. Past history of polio, trauma, radiation, electrical injury, malignancy, or lymphoma. Occupational exposure to toxins may lead to FMA

Findings on Sensory Examination That Are Strongly Suggestive of a Lesion of the Spinal Cord

• Loss of position and vibratory sensation in the feet with preserved ankle

jerks (dorsal cord syndrome)

• Bilateral loss of position and vibratory sensation in the feet with a definite

level of pinprick loss on the abdomen or chest (thoracic cord lesion)

• Bilateral segmental sensory loss (i.e., sensory loss in the hands and

forearms), not in a peripheral nerve distribution, with normal sensation in the legs and trunk and in the upper arms and neck (central cord syndrome, syringomyelia)

• Loss of pinprick sensation on one side of the body with loss of position

and vibration sensation on the other (Brown-Séquard syndrome)

• Loss of pinprick sensation over the legs and trunk with normal sensation in

the perianal area (intramedullary lesion or anterior extramedullary compression)

• Loss of pinprick sensation in the perianal area and in the upper part of

both posterior thighs (conus medullaris or L5–S1 cauda equina lesion)

• Loss of pinprick sensation on the legs and trunk with normal position and

vibration sense in the toes and fingers (anterior cord syndrome)

Urgency and urge incontinence

1. Uninhibited neurogenic bladder - loss of the cortical inhibition of reflex voiding, while bladder tone remains normal. Bladder distention causes contraction in response to the stretch reflex. There is frequency, urgency, and incontinence that are not associated with

• dysuria. Hesitancy may precede urgency. Bladder sensation is usually
• normal. There is no residual urine.

2. Reflex neurogenic bladder occurs with severe myelopathy or extensive brain lesions causing interruption of both the descending autonomic tracts to the bladder and the ascending sensory pathways above the sacral segments of the cord. The bladder capacity is small, and micturition is reflex and involuntary. The residual urine volume is variable. 3. Autonomous bladder (without external innervation). (neoplastic, traumatic, inflammatory, and other lesions of the sacral spinal cord, conus medullaris or cauda equina, S2-S4 motor or sensory roots, or the peripheral nerves, and with congenital anomalies such as spina bifida)

• There is destruction of the parasympathetic supply. Sensation is

absent and there is no reflex or voluntary control of the bladder; contractions occur as the result of stimulation of the intrinsic neural plexuses within the bladder wall. The amount of residual urine is large, but the bladder capacity is not greatly increased. 3. Sensory paralytic bladder (lesions that involve the posterior roots or posterior root ganglia of the sacral nerves, or the posterior columns

• f the spinal cord) Sensation is absent, and there is no desire to void.

There may be distention, dribbling, and difficulty both in initiating micturition and in emptying the bladder. There is a large amount of residual urine. 4. Motor paralytic bladder (motor nerve supply to the bladder is interrupted) The bladder distends and decompensates, but sensation is normal. The residual urine and bladder capacity vary.

Short neck(>13:1)

• Downs syndrome
• Turners syndrome
• Klippel fiel syndrome
• Mucoplysaccharidosis
• Sprengel deformity
• Congenital hypothyroidism

High arched palate

• Normal variant
• Marfan's syndrome
• Pierre Robin syndrome
• Turner's syndrome
• Noonan syndrome
• Pseudoxanthoma elasticum
• Lowe syndrome
• Friedrich's ataxia
• Muenke syndrome
• Pfieffer syndrome
• Cardiofaciocutaneous syndrome
• Cerebrohepatorenal syndrome
• Cystathionine beta-synthase deficiency
• Fetal akinesia-hypokinesia sequence
• Fetal aminopterin-like syndrome
• Friedreich's ataxia
• Kabuki make-up syndrome
• Lowe syndrome
• Lujan-Fryns syndrome
• Marfan's syndrome
• Metaphyseal chondrodysplasia, Jansen

type

• Noonan's syndrome
• Orofaciodigital syndrome type 4
• Pseudoxanthoma elasticum dominant

type 2

• Rubinstein-Taybi syndrome
• Saethre-Chotzen syndrome
• Spondyloepiphyseal dysplasia

congenita

• Turner's syndrome

Low set ears

• Down's syndrome
• Turner Syndrome
• Noonan syndrome
• Patau syndrome
• DiGeorge syndrome
• Cri du chat syndrome
• Edwards syndrome
• It is usually bilateral, but can be unilateral in

Goldenhar syndrome.

Neck tilt

• Temporary (swollen lymph nodes, an ear infection, cold, injury to the

head and neck that causes swelling)

• Fixed Torticollis ( also called acute torticollis or permanent torticollis. It is

usually due to a problem with muscle or bone structure)

• Muscular Torticollis
• Klippel-Feil Syndrome
• Cervical Dystonia

HYDRODYNAMIC THEORY Hans Chiari(1891): Hydrocephalus → pressure gradient → herniation Gardner(1965): Hydrocephalus and hydromyelia normal in early embryonic life When 4th V outlet opens, fluid is drained to sub arachnoid space and decompresses ventricular system During embryonic life, overactive choroid plexus pulsations→ Herniation → obstruction of 4th Vent.

• utlet → CSF pushed to central Canal through patent
• bex → syrigomyelia

SMALL POST. FOSSA / HINDBRAIN OUTGROWTH THEORY.

• One of the earliest proposed mechanisms
• When the growth of post. Fossa is inadequate

to contain the growing hindbrain contents herniation occurs.

• MRI volumetry of the post fossa demonstrated

smaller vol in patients.

• Reduction in height of post fossa is the most

sriking feature compared to other dimensions.

Acta Neurochir (Wien). 144, 165-171.(2002)

• Neurosurgery. 37, 214-218.(1995)

J Neurosurg. 99, 291-296. (2003)

CAUDAL TRACTION THEORY

• Penfield & Cobim(1938) and Lichenstein (1942)

proposed this.

• Explains only cases with tethering of cord.
• Distal fixation and tethering → Traction on developing

rhombencephalon → elongation & herniation.

• Shortcomings:

Distal traction on cord s dissipated over 3-4 segments Kinking of medulla is also against traction theory. Does not explain the associated anomalies Why only tonsills descend?

J Neuropathol Exp Neurol. 25, 654–666.

The hindbrain dysgenesis and developmental arrest theory abnormal neural tissues plays the major role in pathogenesis and that the mechanical forces are not

• determinant. Keens T.G., Ward S.L.D.: (2000) Sleep and breathing in children: a

developmental approach; Marcel Dekker, New York 2000, pp, 532-535.

UNIFIED THEORY (McLONE AND KNIPPER)

• Spinal canal temporarily closes prior to closure of

neural tube →distension of ventricles → development of neuro -epithelium and surrounding mesenchyme.

• If neural tube fails to close, opening of canal →

escape of CSF → lack of ventricular distension → small posterior fossa, herniation and other defects.

• Explains only Chiari 2 as open neural tube is a pre-

requisite.

• Supported by reversal of herniation in intra-uterine

repair of myelomeningocele.

• Pediatr. Neurosci .15, 1-12.

GENETIC HYPOTHESIS

• Familial clustering and association with

syndromes points to a genetic origin.

• Reports of AD and AR transmission exist.
• Linkage analysis show regions 15q21.1-22.3

and 9q21.33-33.1 linked to Chiari 1.

• 12% of patients with symptomatic CM 1 had

at least 1 close relative with CM 1 or related conditions

Boyle et al, (2006).Am J Med Genet A. 140, 2776-2785. Speer et al (2000). Neurosurg Focus. 8, E12. Tubbs et al(2008) J Neurosurg Pediatrics. 1, 21-24. Milhort et al,Neurosurgery,vol 44(5),May 1999, pp 1005-1017

SYRINGOMYELIA

• Williams(1969): Cranio-spinal pressure dissociation

& venous pressure changes are responsible. Valsalva manure →engorgement of epidural veins → CSF pushed intracranialy → Ball valve like action prevents return of fluid → Fluid sucked in through patent obex → syrinx

• blockage and unidirectional flow demonstrated by
• MRI. Decompression aimed at preventing the
• bstruction results in resolution of syrinx
• But no communication identified in most of cases

• Stoody et al:

Systolic expansion of arteries pushes fluid out

• f basement membrane. During diastole, fluid

is sucked in. Pulsations in sub arachnoid space transmitted through peri vascular spaces acts as impetus to flow

• Ball and Dayan:

Sub arachnoid fluid dissects into spinal cord parenchyma along the Virchow Robin space when tonsillar impaction prevented upward escape of CSF.

Brain res. 1996; 707; 155-64 Lancet 1972; 2; 799-801

• Oldfield(1994): It is currently a widely

accepted theory.

• Brain expands in systole → Tonsils pushed to

spinal canal → ↑ spinal sub arachnoid pressure → CSF forced through peri vascular and interstitial spaces to canal→ Propulsion of syrinx fluid up and down → origin and propagation of syrinx.

Oldfield EH et al, J Neurosurg 80:3–15, 1994.

UNANSWERED QUESTIONS

• Why some patients with significant tonsillar

herniation remain asymptomatic?

• Late development of syrinx and symptoms-

can be partially explained by adhesions Stevens et al (1993) demonstrated that syringomyelia is

more commen in patients with moderate degrees of herniation (9-14 mm) compared to those with mild and severe forms. This further complicates the understanding. Explained by low lying obex.

J Neurol. Neurosurg.Psychiatry; 1993; 56;1072-77

Case Presentation

31/01/2015

Chief Complaints

18 year old boy, student in 12th std, right handed

• H/O sub-occipital headache with neck pain -

5years.

• Jerky movements of both eyes - 5years.
• Tingling and paresthesia's in all 4 limbs - 3 years
• Weakness and Thinning of bilateral upper limbs

right>left - 18months.

• Painless burns on upper limbs - 18months.
• Difficulty maintaining balance while walking

with stiffness of bilateral lower limbs - 1year.

• Nasal regurgitation of liquids with nasal

intonation of speech - 6months

History of presenting illness

• Localized sub-occipital pain – 5years
• Continues

localized sub-occipital region

• ccasionally radiating upward.
• Aggravation on coughing ,straining for stools
• Neck pain on looking either side or turning head

to either side.

• Difficulty in rotating his neck – 5years

• Jerky up and down movement of eyes -

5years

• Tingling sensation with burning sensation

upper limbs and lower limbs - 3years.

• Started over the shoulders spread

proximal to distal.

• Difficulty

in maintaining balance with tendency to fall and giddiness on closing eyes

• 3years.
• Has cotton wool sensation on his feet while

walking.

• Not able to sense the position of the limbs

while lying on the bed.

• Difficulty in lifting heavy weights - 18months.
• Difficulty in writing, mixing food, eating chapathi, buttoning

and unbuttoning.

• Thinning of his right arm and then forearm- 18months.
• Hands thinner and bony prominences at his wrist and hand

prominent and hollowing of right palm.

• Spontaneous twitching in his arms and chest regions more so
• n the right side.
• Right hand fingers are kept flexed and stiff - 6month

• Deep-seated constant burning pain bilateral upper

limbs worsened by coughing - 18months.

• Decreased sensation of hot and cold in bilateral

upper limbs and upper chest until nipples.

• Painless burn - 6months back
• No pain even on pricking with pins over his upper

limbs.

• Stiffness and tightness of both lower limbs - 1year.
• Difficulty in getting up from squatting position.
• Lower abdomen has become stiff and tight.
• Urinary urgency and frequency - 6 months.

• Hoarseness of voice and nasal intonation of the

speech - 6 months

• Nasal regurgitation of liquids and cough while having

food.

• Drooping of right shoulder and deviation of neck

towards the left side with chin pointing towards right

• 6 months
• Neck tilt with head leaning to left side.

Negative history

• No h/o drop attacks or sudden giddiness while turning head.
• No h/o thinning or twitching of lower limbs.
• No h/o headache, seizure, loss of consciousness,

disorientation or behavioral disturbances.

• No h/o blurring of vision, field cuts, double vision, drooping of

eyelids or protrusion of eyes.

• No h/o facial sensory loss, deviation of jaw, difficulty in

chewing food, redness or dryness of eyes.

• No h/o facial asymmetry, drooling of saliva or difficulty in

closing eyes completely.

• No h/o tinnitus or hearing loss.
• No h/o deviation or thinning of tongue.
• No h/o fever, TB or contact with TB.
• No h/o skin patches or swelling in any part of the body.

• Family history: no similar illness in any of the family

members.

• Past history: Patient born to non-consanguinously

marrried parents by FTND without any perinatal insults, had normal motor, social and language development in childhood.

• Personal history: No significant past medical or

surgical illnesses. Non smoker, non alcoholic Diet is mixed with normal appetite.

Analyzing history :

• Sub-occipital headache with cough headache * 5years
• Neck pain with restriction * 5years
• Burning paresthesia with loss of position sense in both

UL and LL * 3years

• Weakness and wasting of both upper limbs RT>Lt * 1 ½

years

• Bilateral UL funicular pain with loss of pain and

temperature sense and painless burns * 1 ½ years

• Stiffness and tightness of both LL * 1year
• Urinary urgency and frequency * 6months
• Nasal regurgitation of liquids with hoarse voice *

6months

• Drooping of right shoulder and deviation of neck *

6months

Sub-occipital cough headache: The most common causes

• Chiari type I malformation(65%)
• Posterior fossa lesions(15%)
• Obstructive hydrocephalus
• spontaneous low cerebrospinal fluid pressure

(CSF). Pathophysiology: occlusion of CSF flow across FM with sudden rise of ICP

Neck pain with restriction of neck movements : Extradural pathology

• Congenital
• Degenerative
• Infectious
• Traumatic
• Malignant
• With the abovementioned associated history

tonsillar herniation/foramen magnum lesions.

Nystagmus

• Downbeat nystagmus
• Downbeat nystagmus may be present in primary

position, usually accentuated in downgaze (especially downgaze to either side). Alexanders law

• Localization- cervical-medullary junction.

Downbeat nystagmus (differential diagnosis)

• 1. Arnold-Chiari type I malformation(most

common)

• 2. tumors (meningioma, cerebellar

hemangioblastoma) at the foramen magnum

• 3. cranial trauma
• 4. platybasia
• 5. basilar impression
• 6. syrinx of the brainstem or upper cervical

spinal cord

• 7. idiopathic

Burning paresthesia with loss of position sense:

• Indicating Posterior column involvement

Other causes paresthesia's

• From neuropathies to thalamic and functional

syndromes

Weakness and wasting in upper limbs:

• Proximal to distal.
• LMN wasting with fasciculation from C5 to T4 region.

Suggestive intramedullary localization.

Bilateral UL funicular pain with loss of temperature and pain sense in UL along with painless burns:

• Suggesting tract pain (dysesthetic)
• Spinothalamic tract involvement.

Stiffness and tightness of bilateral lower limbs

• Difficulty in getting up from squatting, slipping of

slippers, stiff and tight lower limbs with difficulty maintaining balance while walking and tendency to fall forwards

• Hypertonia
• CST involvement in lower limbs above L1
• Intramedullary- proximal to distal

Urinary urgency and frequency

• associated with other UMN findings in

lower limbs

• No features suggestive of urinary tract

infection.

Nasal regurgitation, hoarseness with nasal intonation of voice + drooping of right shoulder – LCN involvement.

• nerve vs nuclear
• Nuclear associated with facial sensory loss if

intramedullary.

• Nerve involvement possible

Substrates involved

• Cervical Posterior column
• LMN/ anterior horn cells in cervical cord (upper cervical to

mid dorsal).

• Spinothalamic involvement - upper cervical to mid

thoracic.

• CST involvement of lower limbs below mid dorsal above L1.
• LCN involvement IX X and CN XI
• Autonomic fibres
• Mechanical restriction , Cervico-medullary compression

(downbeat nystagmus)

• Location: High cervical with lower medulla.
• Upper extent lower brainstem.
• Lower extent atleast upto upper thoracic

(fasciculations).

• Plane of lesion: ?Intramedullary (odd point –

pain, delayed bladder)

• Possibility –
• 1. ACM with syrinx with CVJ bone anomaly.
• 2. foramen magnum lesions(?Posteriorly

located) associated syrinx/edema.

• 3. Intramedullary from lower brainstem to mid

thoracic (odd- pain)

On examination

• Middle aged male patient, moderately built and

nourished, afebrile

• Pulse 84/min, regular with normal volume, bilaterally

symmetrical.

• BP 130/90 mm of Hg, in sitting and 126/90 standing(

to r/o orthostatic hypotension).

• CVS, RS, P/A – Within normal limits

• SBC 14
• Height 159 cm
• Weight 70 kg
• Neck-height ratio 15.5:1 – short neck.
• High arched palate +
• Low set ears
• Low hairline
• No skin patches or appendages.
• No subcutaneous nodules or other

neurocutaneous markers.

Higher Mental Functions

• Patient conscious, alert, with normal attention

span

• Oriented to time, place and person
• Normal immediate recent and remote memory
• Normal intelligence and insight
• No behavioral changes
• Speech normal- rrrc
• Signs of meningeal irritation not checked due to

doubtful CVJ pathology.

Cranial Nerve examination

• I - Olfaction normal bilaterally.
• II - V/A 6/9 bilaterally with normal fundus and field

examination.

• III, IV, VI - Pupils bilaterally equal and reactive on both

direct and indirect.

• No ptosis.
• Extra-occular movements are bilaterally in full range in all

cardinal gazes.

• Primary gaze: Downbeat nystagmus present, which gets

exaggerated on looking downwards.

• V – bilateral onion peel sensory loss to pain and

temperature, Right>left. Central sparing. Cornel reflex normal. No deviation of jaw or wasting of temporalis and normal touch sensation. Jaw jerk normal.

• VII – Normal facial contour without asymmetry of

forehead or face. Normal forehead furrows and nasolabial fold. Normal burying of eyelashes on forceful closure. taste- normal

• VIII – AC>BC b/l. with normal Rinnes, Webers and
• ABC. Local examination of ear and mastoid normal.

• IX,X – uvula is central, sagging and reduced

movements on telling “Ah”.

• Nasal intonation of speech present.
• No swelling near the pharyngeal pillars or

pooling of saliva.

• Gag reflex both pharyngeal and palatal -

impaired.

• XI – There is sagging of right shoulder

compared to left with flattening of shoulder contour.

• Sternocleidomastoid normal.
• Shrugging of shoulders normal. Forceful neck

movements not attempted.

• XII – Tongue central, symmetrical without

wasting or deviation.

Motor system:

• Deformities and wasting : right shoulder lower level ,

flattening of shoulder contour , hollowing of supraclavicular space and in suprascapular/paraspinal areas.

• Suboccipital muscle wasting present on either sides

right>left.

• Wasting and thinning in the shoulder, arm forearm and

hand muscles. clawing of all fingers.

• Fasciculation in chest and arm
• Healed wound over right forearm and waist due to burn

injury 6months back.

• Bulk:
• Difference of 3cm in bulk in arm and 2cm in forearm.
• Wasting of inter-metacatpal spaces, 1st interdigital webspace

and hollowing and flattening of both thenar and hypothenar

• eminences. Fasciculations present in arm forearm and over

the chest on right side.

• Tone-
• normal in upper limbs
• Increased in lower limbs
• No clonus

• POWER

Right Left Shoulders- FLEX, EXT, ADD, ABD 4/5 4+/5 Elbows – FEX, EXT 4/5 4+/5 Wrist - FEX, EXT 4/5 4+/5 Handgrip 60% 90% Hip - FLEX, EXT, ADD, ABD 4+/5 4+/5 Knees- FEX, EXT 4+/5 4+/5 Ankles- FEX, EXT 4+/5 4+/5 EHL 4+/5 4+/5

DTR

BJ TJ SJ Hoff man FFJ KJ AJ clonu s Right

• 3+

3+ Nil left

• 3+

3+ Nil

Sensory

• Loss of pain and temperature from C2 to D7 bilaterally,

right > left. Sparing of touch sensation in the same region.

• Vibration sense impaired from upto elbow, all

spines(preserved above lower cervical) and in lower limb.

• Joint position sense impaired in both UL and LL(upto

knee and elbow).

• Romberg’s test positive.

Superficial Reflexes

• Abdominal reflex absent in all quadrants
• Bilateral Cremasteric absent
• Bilateral Plantars extensor

Cerebellar

• FNF, FF impaired. Not conclusive(weakness,

posterior column).

• HSK test could not be tested.
• Nystagmus present – Downbeating.
• Speech- nasal intonation. No slurring.
• Stance slightly broad based
• Gait spastic ataxic gait.

Positive findings at the end of examination are

• Multiple congenital neck anamolies.
• Decreases SBC (high cervical compression).
• Onion peel sensory loss in face(sensory tract
• f trigeminal nerve).
• Involvement of LCN and XI th nerves.

• Dissociative sensory loss (spinothalamic) from C2 to D7

region(temperature and pain).

• Posterior column sensory loss.
• Wasting and weakness from C2 to D7 region with

hyporeflxia in UL (LMN) .

• Pyramidal signs in both lower limbs with hyperreflexia

and upgoing plantars(CST above L1).

• Downbeat nystagmus(cervicomedullary compression).

Additional points after examination

• Onion peel sensory loss (Feature of

IM)

• No horners syndrome.

Localization:

Remains the same

• Posteriorly located cervicomedullary

compression causing cervicomedullary syrinx.

• Cervicomedullary tumor (odd point is cough

headache and neck pain)

• Plane of lesion

INTRAMEDULLARY

Pathological possibilities

• ACM with cervicodorsal syrinx +/- synringobulbia.
• CVJ bony anamoly with soft tissue involvement.
• others
• Foramen magnum lesion coausing posterior

compression with syrinx/oedema

• Cervicomedullary Intramedullary lesion with

exophytic component causing neck pain and cough headache(odd long history, no early bladder).

Investigations required

• MRI Craniovertebral junction with MRI of whole

spine, MRI brain with CSF flow studies(cardiac gated phase contrast imaging).

• Xray CVJ lateral view with flexion and extension.
• CT CVJ.

Skull base angle:Angle formed by:

• line joining the nasion with the centre of the pituitary fossa.
• line joining the anterior border of foramen magnum with centre of the pituitary fossa.

normal: 125°-143° platybasia: > 143° basilar kyphosis: < 125°

20150005995

Diagnosis: Arnold-chiari malformation with cervicodorsal syrinx, associated with platybasia and basilar invagination, C2C3 klippel-fiel anamoly.

THANK YOU