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Dr.AjayDr.Ajay RaghavRaghav Joshi Joshi

Postgraduate, Postgraduate, SStanley medical college.tanley medical college.

Guide: Guide: Dr.SDr.S. . VelusamyVelusamy

Professor ,Professor ,PaediatricPaediatric Neurology Neurology

Stanley medical collegeStanley medical college

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™A 9 year old boy,3rd child for nonconsanguineousparents, born by normal delivery with mild motor developmental delay presented with involuntary head movement since 8 months of age.

™Movements increased since 3 years of age.

Case

–™Movements only on walking.

™ Side to side movements.

™ Absent during sitting / lying.

™Operated for squint at 6years of age.

™Using spectacles for hypermetropia.

Case contd…

–™ Social smile 3months

™Head control 8months

™ Sitting with support 10 month

™ Sitting without support 1 year

™ Standing with support 2 years

™ Standing without support 2 ½ years

™Good academic performance

Developmental history

–™ Left handed.™ Head circumference 51 cm.™ B/L polydactyly, no facial dysmorphism except for

squint.™ Intelligence,Speech,Cranialnerves,Spinal motor system

normal.™ No cerebellar signs.™ -Patient had side to side head movement present only on

walking , but absent at rest, on sitting, standing and on doing visually engaging tasks.

™ -Opthalmologic evaluation revealed hypermetropiawhich was corrected with glass.

On examination

–™ Image showing

preaxialpolydactyly and

squint

–™CBC, RFT, LFT – N

™Cardiac evaluation – N

™USG abdomen – N

™X RAY cervical spine - N

Investigations

–™MRI brain revealed absence of vermis with fusion

of cerebellar hemispheres (RES) and hydrocephalus(dilatation of lateral and 3rd ventricle).

Investigations

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–™ Rhombencephalosynapsis (RES) is a rare sporadic malformation

characterized by absence of vermis with fusion of cerebellar hemispheres resulting from disturbance of cerebellar development at 28 to 41 days of gestation .

™ Frequency in paediatric population is around 0.13% .Head shaking stereotypy is noted in many patients with RES.

Rhombencephalosynapsis

–™ Cause of RES is unknown. Deletion in chromosome 2q noted in a few

patients.

™ RES is often associated with hydrocephalus, callosal agenesis, polydactyly, abnormality involving urinary tract, skeletal and cardiovascular systems.

™ As developing cerebellum and trigeminal placodes develop in close proximity,a few cases of RES associated with parietal skin alopecia,trigeminaldistribution anaesthesia and masseter weakness(cerebellotrigeminal dermal dysplasia/gomez lopez hernandes syndrome)have been reported.

™ RES has been associated with VACTERL.

Discussion

–™ In Hannah M.Tulley et al series of 59 patients with RES,50

patients(85%)had headshaking stereotypies.

™ RES affects midline and paramidline cerebellar structures and dysfunction may occur at level of vestibulocerebellum.

™ Head shaking may be a nonvolitional means of gaining additional sensory information activating neck afferent and semicircular canal and therefore increases the output of a defective vestibular system.Alternatively,themovement may represent a rhythmic motor pattern that is ordinarily suppressed in presence of appropriate vestibular feedback.

Discussion contd…

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™ Patients with RES also exhibit other stereotypies,tics, and ADHD suggesting that they may be particularly predisposed to developing repetitive movement in general, which are associated with abnormality in network involving frontal cortex and basal ganglia.

™ These neurobehavioural features may be due to disrupted cerebellar modulation of frontal basal ganglia circuit.

Discussion contd…

–™ Side to side head movement especially when accompanied by motor delay/

squint should alert clinician to possible presence of a congenital hindbrain anomaly affecting vestibulocerebellum, particularly RES.

Conclusion

–Thank you

Dr.S.Velusamy

Email:drvelsneuro@gmail.com