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Case Study: Lesch Nyhan Syndrome

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Ena Ankutse

on 30 June 2014

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Transcript of Case Study: Lesch Nyhan Syndrome

- 2 year old boy

- Referred to Moor Lane March 2003

- Uneventful pregnancy.

- He was delivered by C-section following previous still birth.

- Parents noticed he was developing slower than expected.

- Initially had the diagnosis of CP, which was later confirmed to be LNS.
Problem List
Initial problem list (2013):
- Fluctuating tone - high in UL.
- Unable to roll independently.
- Poor head control
- Decreased core stability and poor posture
- Unable to sit unsupported

AIMS score:
- Well below the 5th percentile
Current Management
Physio Tools Programme:
- 13 yr old boy

- Uneventful birth.

- Noticed developmental delay at 4 months.
- Diagnosed with LNS at 1.

- At 6 years on had deep brain stimulation device fitted in Mumbai which he later had adjusted.

- Had Physio until school age and was then placed in mainstream school where therapy stopped.

- Came to England when he was 9.

Problem List
Initial problem list (2009):
- Poor selective head control
- Erratic UL control and movement.
- Unable to sit independently.
- Unable to 4 pt kneel.
- Unable to reciprocally kick and maintain stillness in water.
- Difficulty weight bearing through L and R UL.

Current Management
Bedelsford Case
Moor Lane Case
Options for Management
- None have been evaluated in a controlled clinical trial.
- Frequently used medications include baclofen, diazepam, and clonazepam.

The main goal is to reduce the muscle stiffness and improve mobility.
Lesch Nyhan Syndrome
Why is physiotherapy needed?
Clinical Picture
- Developmental delay
- Neuromotor disability
- Behavioural problems
Dyskinteic movements
- Learning disabilities
- Self Injurious behaviour
- Crystals and stones (hyperuricemia)
Joints between bones
Cause irritation (Gout).

Therefore our role is....
- To help manage and reduce the severity of secondary complications caused by developmental delay, neuromotor disability and self injurious behaviour.

What is Lesch Nyhan Syndrome?
How is it caused?
How common?
X linked genetic disease, males have the disease and females are carriers.
If a mother is a carrier, there is a 50/50 chance that her male offspring will have the disease and 50/50 chance that her daughters will be carriers.
Two documented cases of females having the disease.
LND appears to be distributed evenly among races and geographic locations.
Occurs as frequently as one in every 380,000 births (Crawhall, 1972).
However, tabulations of the actual number of cases suggest that it is even more rare.
Norway: Population 4½ million, 3 cases.
New York City: Population 8 million, 7 cases.
Most commonly inherited
Can occur via spontaneous genetic mutation.
1/3 of the cases result from spontaneous mutation.
A rare X-linked recessive disorder involving a complete absence of activity of the enzyme hypoxanthine-phosphoribosyltransferase (HPRT).
The lack of HPRT activity results in an extreme overproduction of uric acid and related symptoms of gout and renal dysfunction.
- Prevent certain types of unwanted movements.
- Most common ones are attached to the arms to prevent bending of the elbow and finger biting.
Deep Brain Stimulation
Behaviour Therapy
Must be specially designed for safety.
All sharp corners and objects within hand reach must be covered with soft padding.
The head rest must be high to prevent injuring his neck.
Straps for chest, arms and legs.
Other equipiment: Standing frames.
- The goal is to focus attention on good behaviours while ignoring bad behaviours
- Identify the situations that cause problem behaviours, and then try to avoid these situations
Symptoms noticed between 3-12 months (developmental delay).

Involuntary movements start between 6 – 18 months.

‘Orange sand in nappies’ - build-up of uric acid.

Behavioural disorders and self-injury not usually present until after the 2nd birthday (rarely, not until 10 yrs)

Death is usual in 20s of 30s with few reaching their 40th birthday.

Usually by aspiration pneumonia.

Deep brain stimulation (DBS)
is a neurosurgical procedure involving the implantation of a brain pacemaker, which sends electrical impulses, through implanted electrodes, to specific parts of the brain (brain nucleus) for the
treatment of movement and affective disorders.
directly changes brain activity in a controlled manner
, its effects are reversible (unlike those of lesioning techniques).
For dystonia and symptoms associated with Parkinson's disease, the lead may be placed in the
globus pallidus internus

Globus Pallidus
The globus pallidus is involved in the
regulation of voluntary movement
. It is part of the basal ganglia, which, among other things, regulates movements that occur on the subconscious level.

If the globus pallidus is damaged, it can cause
movement disorders, as its regulatory function will be impaired.

The globus pallidus has a
primarily inhibitory action
that balances the excitatory action of the cerebellum.

Taira (2003)

Performed bilateral chronic stimulation on a 19 year old LNS sufferer.

After 2.5 years follow up:
- His self-mutilating behaviour disappeared after chronic stimulation.

- Findings indicated that neurobehavioural features of this syndrome are either mediated in the basal ganglia pathways or secondary to dystonia.

Cif & Biolsi (2007)

Antero-ventral internal pallidum stimulation to the limbic and motor regions.

After 28 month follow up:
- Found that the injurious complusions disappeared
- Dystonia and dyskinesia were decreased.

Deon (2012)
Management of a 10yr old LNS sufferer who was treated with DBS to reduce hypertonia
As well as orthotics and oral/intramuscular medications (intrathecal baclofen).

2.5 years follow up:
- Remission of self-injurious behaviors
- Improvements in dystonia

'Our experience suggests that pallidal deep-brain stimulation can be used for control of self-injurious behavior in Lesch-Nyhan syndrome patients as young as 7 years old'
Potential Side effects
Tingling sensation (Paresthesia).
Worsening of symptoms.
Speech problems (Dysarthria, Dysphasia ).
Dizziness or lightheadedness (Disequilibrium).
Facial and limb muscle weakness or partial paralysis (paresis).
Abnormal, involuntary muscle contractions (Dystonia, Dyskinesia).
Movement problems or reduced coordination.
Jolting or shocking sensation.
Numbness (Hypoesthesia).
Thank you for listening!
Current problems (2014):
- Shoulder protraction
- Flexed posture
- Beginning to pronate with UL when propping.
- Walking in water
- Controlled movements (although has improved in general)
- Kyphosed posture in sitting

Aims of Physiotherapy:
- Maintain and protect joints
- Normalise Tone
- Monitor posture
- Aid function
- Build confidence and self esteem
Goals (2013):
- Independently consistently roll into prone and stay in position of neck extension for 10 mins.
- Equally weight bear through LLs in a fully supported standing position for 15 mins using standing frame.

Current goals (2014):
- To be able to four point kneel independently
- To be able to sit unsupported for 1 minute whilst demonstrating saving reactions.
Cif L, Biolsi B (2007) 'Antero-ventral internal pallidium stimulation improves behavioural disorders in Lesch-Nyhan disease', Movement disorder society, 22(14), pp2126-2129.
Deon L, Kalichman M , Booth C, (2012). 'Pallidal Deep-Brain Stimulation Associated With Complete Remission of Self-injurious Behaviors in a Patient With Lesch-Nyhan Syndrome',
Journal of child neurology
, 27(1), pp117- 120.

Taira T, Kobayashi T (2003) 'Disappearance of self-mutilation in a patient with Lesch-Nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus',
Journal of neurosurgery
, 98(2), pp414-416.

Lesch-Nyhan syndrome is a complex disease to manage due to the various symptoms that occur.
As physiotherapists there is a lot we can provide to lessen the severity of these symptoms.
There is evidence to suggest that DBS and medication can help reduce behavioural problems and dystonia.
Full transcript