• 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, 1 st 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, 4/5 4+/5 ADD, ABD • Elbows – FEX, EXT 4/5 4+/5 Wrist - FEX, EXT 4/5 4+/5 Handgrip 60% 90% Hip - FLEX, EXT, ADD, 4+/5 4+/5 ABD Knees- FEX, EXT 4+/5 4+/5 Ankles- FEX, EXT 4+/5 4+/5 EHL 4+/5 4+/5
DTR BJ TJ SJ Hoff FFJ KJ AJ clonu man 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 of 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.
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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 of 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 objects. 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 of 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 Kabuki make-up syndrome • • Marfan's syndrome Lowe syndrome • • Pierre Robin syndrome Lujan-Fryns syndrome • • Turner's syndrome Marfan's syndrome • • Noonan syndrome Metaphyseal chondrodysplasia, Jansen type • Pseudoxanthoma elasticum • Noonan's syndrome • Lowe syndrome • Orofaciodigital syndrome type 4 • Friedrich's ataxia • Pseudoxanthoma elasticum dominant • Muenke syndrome type 2 • Pfieffer syndrome • Rubinstein-Taybi syndrome • Cardiofaciocutaneous syndrome • Saethre-Chotzen syndrome • Cerebrohepatorenal syndrome • Spondyloepiphyseal dysplasia • Cystathionine beta-synthase deficiency congenita • Fetal akinesia-hypokinesia sequence • Turner's syndrome • Fetal aminopterin-like syndrome • Friedreich's ataxia
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 4 th V outlet opens, fluid is drained to sub arachnoid space and decompresses ventricular system During embryonic life, overactive choroid plexus pulsations→ Herniation → obstruction of 4 th Vent. outlet → CSF pushed to central Canal through patent obex → 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. Neurosurgery. 37, 214-218.(1995 ) Acta Neurochir (Wien). 144, 165-171.(2002) 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 J Neuropathol Exp Neurol. 25, 654 – 666. Kinking of medulla is also against traction theory. Does not explain the associated anomalies Why only tonsills descend?
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. Speer et al (2000). Neurosurg Focus. 8, E12. Tubbs et al(2008) J Neurosurg Pediatrics. 1, 21-24. • Reports of AD and AR transmission exist. • Linkage analysis show regions 15q21.1-22.3 and 9q21.33-33.1 linked to Chiari 1. Boyle et al, (2006).Am J Med Genet A. 140, 2776-2785. • 12% of patients with symptomatic CM 1 had at least 1 close relative with CM 1 or related conditions 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 obstruction results in resolution of syrinx • But no communication identified in most of cases
• Stoody et al: Brain res. 1996; 707; 155-64 Systolic expansion of arteries pushes fluid out of 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: Lancet 1972; 2; 799-801 Sub arachnoid fluid dissects into spinal cord parenchyma along the Virchow Robin space when tonsillar impaction prevented upward escape of CSF.
• 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 12 th 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 occasionally 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 on 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
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