Different Type of Syndrome

1. Rocker bottom foot

A rocker bottom foot (also known as a congenital vertical talus) is a congenital anomaly of the
foot. It is characterised by a prominent calcaneus/heel and a convex rounded sole.

Pathology

It results from a dorsal and lateral dislocation of the talonavicular joint.

Associations

 aneuploidic syndromic
o trisomy 13
o trisomy 18
o 18q deletion syndrome
 non-aneuploidic non-syndromic
o spina bifida
o arthrogryposis

Radiographic features

For assessment of the foot alignment abnormalities, it is important to perform weight bearing
images or an equivalent in neonates:

 fixed equinus: plantarflexion of the calcaneus

 vertical talus: plantarflexion of the talus (increased talocalcaneal angle)
 irreducible dorsal subluxation or dislocation of the navicular
 forefoot valgus: divergence of bases of the metatarsal heads on AP and superimposition
of the metatarsal bones on the lateral view
 long axis of the talus passes plantar to metatarsal axis on lateral view and medial to the
first metatarsal on AP view

The presence of a rocker bottom foot in an antenatal ultrasound scan is sometimes classified as a
soft sign for aneuploidic anomalies 3.

Differential diagnosis

In the antenatal/neonatal period consider clubfoot.

In the adult period consider acquired rocker bottom deformity occurring secondary to:

 underlying neuromuscular disorder(s)

 diabetic foot (Charcot joint) 2
Treatment

Type II should be managed conservatively whereas type I and Ia requires to be treated surgically.
Surgery involves four major steps:

 Development of the calcaneal part of the foot

 Repositioning of the navicular bone
 New adjustment of the ankle, and
 Various stabilization measures including the Grice operation and transposition of various
tendons.

References

 1. Mckie J, Radomisli T. Congenital vertical talus: a review. Clin Podiatr Med Surg.
2010;27 (1): 145-56. doi:10.1016/j.cpm.2009.08.008 - Pubmed citation
 2. Russell JM, Peterson JJ, Bancroft LW. MR imaging of the diabetic foot. Magn Reson
Imaging Clin N Am. 2008;16 (1): 59-70, vi. doi:10.1016/j.mric.2008.02.004 - Pubmed
citation
 3. www.rcogcourses.org.uk/topics/soft%20ultrasound%20markers.pdf

2. West syndrome (infantile spasms)

Infantile spasms are a type of epilepsy with a characteristic age of onset (typical age when
seizures start), pattern of seizures and electroencephalogram (EEG). This means that it is an
‘electroclinical epileptic syndrome’. The syndrome is called ‘West syndrome’ after Dr West,
who first described the condition in his 4-month-old son in 1841. This type of epilepsy occurs in
about one in 2,500-3,000 children. Every year in the UK about 350-400 children will develop
West syndrome.

Symptoms

In 9 out of 10 children with the condition, infantile spasms occur in the first year of life, typically
between 3 and 8 months old. To begin with, the attacks are usually brief and infrequent and do
not occur in clusters. Therefore it is quite common for the diagnosis to be made late. The parents
may initially be told their infant has colic because of the pattern of the attacks and the cry that a
child gives during or after an attack.

The typical pattern is of a sudden flexion (bending forward) in a tonic (stiffening) fashion of the
body, arms and legs. Sometimes, the episodes are different, with the arms and legs being flung
outwards (these are called ‘extensor’ spasms). Usually, they affect both sides of the body
equally.
Typically, each episode lasts just 1 or 2 seconds, there is then a pause for a few seconds followed
by a further spasm. While single spasms may happen, infantile spasms usually happen in ‘runs’
or ‘clusters’ of several in a row. It is common for babies who have infantile spasms to become
irritable and for their development to slow up or even to go backwards until the spasms are
controlled. These babies can also behave as if they cannot see. These problems can improve if
the spasms can be controlled and the EEG improves.

Diagnosis

The diagnosis of infantile spasms is made by a combination of the typical features with a typical
EEG. The EEG shows a very disorganised pattern called ‘hypsarrhythmia’. The EEG is always
abnormal in children with West syndrome but sometimes this abnormality is seen only during
sleep. Infantile spasms, like many other ‘electroclinical syndromes’, have lots of different causes.
A particular cause will be found in 7 or 8 out of every 10 children with West syndrome. A video
of the spasms is also very helpful.

Most children with infantile spasms will need a number of tests apart from the EEG. These
include brain scans, blood tests, urine tests and, sometimes, spinal fluid and other tests in order to
try to identify the underlying cause. The most important brain scan is the magnetic resonance
imaging (MRI) scan.

Treatment

The main treatments used are corticosteroids or vigabatrin (Sabril). Nitrazepam and sodium
valproate (Epilim) may also be used. There are different types of steroid that can be used. These
are prednisolone (given by mouth), hydrocortisone (given by mouth or sometimes by injection)
or tetracosactide (given by an intramuscular injection). Steroids must be used carefully as this
treatment may cause some unpleasant side-effects. Vigabatrin may also be associated with some
side-effects. Ketogenic dietary therapy (often called the ketogenic diet) may also be helpful for
some infants.

There may be research studies open that are relevant to this epilepsy syndrome. Your child’s
doctor will be able to discuss this with you.

If your child has this syndrome they may have prolonged or repeated seizures. Your child’s
doctor will discuss a ‘rescue’ or emergency care plan with you to treat any prolonged or repeated
seizures.

Information about treatments for children can be found on the Medicines for Children website.
Outlook

In some children, infantile spasms respond easily to treatment, whereas in others they keep on
happening. Most children unfortunately go on to have other kinds of seizures in later childhood
including an epilepsy syndrome called Lennox-Gastaut syndrome. Most children also have
learning difficulties and these may be mild or severe. The long-term outlook for West syndrome,
for both the spasms stopping and the child’s development and learning, depends mainly on the
cause of the syndrome.

3. Wilson's Disease
Definition/Description

Wilson’s disease, also known as hepatolenticular degeneration, is an autosomal recessive

disorder that results from abnormal metabolism of copper. It is caused from the mutation of the
ATP7B gene, and leads to the accumulation of copper in key organs such as the liver, central
nervous system, kidney, cornea and other tissues, resulting in impaired function. The deposition
of copper begins immediately at birth, with symptoms usually presenting in late adolescence.
Wilson's disease typically manifests into two common presentations: Liver disease or
neurological symptoms, due to these organ's large involvement in the accumulation of copper.
Symptomatic adolescents will tend to experience more symptoms related to liver pathologies,
while older adults will experience neurological signs and symptoms.

Prevalence

Wilson’s disease is a rare condition, affecting only one person in 30,000 in most populations.
This condition is considered an autosomal recessive. The gene frequency for this disease has
been found to be 56%, with a carrier frequency of 1 in every 90 people. According to recent
studies, an increase incidence of this gene mutation has been found in isolated populations like
Costa Rica and Sardinia, an island off Italy.
Characteristics/Clinical Presentation

 The main involvements are most commonly hepatic, neurological, and psychiatric and
these symptoms can present from asymptomatic to fatal if left untreated.

 Hepatic presentation can present as asymptomatic, acute hepatitis, acute/chronic liver

failure, and cirrhosis. Other symptoms that may present are, Coomb's negative hemolytic
anemia, low grade hemolysis and jaundice.

 Neurological involvement can present with athetoid movements and unsteady gait. They
can also present similar to Parkinson's disease, ataxia, pseudosclerosis dominated by
tremor, and a dystonic syndrome that often leads to contractures.

 Other central nervous system symptoms include pill rolling tremors in hands, facial and
muscular rigidity, and dysarthria.

 Psychiatric characteristics can present in the hand-eye coordination, emotional and

behavioral changes, and decrease in Performance

 Wilson's can also have an ocular manifestation as a Kayser-Fleischer ring around the eye
fromcopper deposits and a sunflower cataracts in the lens, which is less
commonlyobserved compared to the Kayser-Fleischer ring.

 Liver disease is most likely the manifestation in the pediatric population and neuro
disease is most common in young adults.

Etiology/Causes

Wilson's Disease is a disorder that results in excess copper accumulation in target organs and
impairing the normal function of the particular organs (liver, brain, cornea, etc). The exact cause
of this disease is not fully understood, however, the gene that is currently believed to be
responsible is the mutation of ATP7B. This gene, ATP7B, is a vitally important enzyme for
copper transport in the body. The mutation in this gene is linked to abnormal excretion and
ultimately deposition of copper in particular organs. It is believed that other factors may be
involved with the development of Wilson's, such as, other genetic variations, lipid metabolism,
and possible environmental factors. Further research on the etiology of Wilson's Disease is
needed.

Physical Therapy Management (current best evidence)

Physical therapy can play a major role in the treatment of individuals with Wilson's disease. One
of the most common manifestations of this condition is the neurological symptoms that present
like a movement disorder. Patients present with dystonia, dyscoordination, tremors and difficulty
with balance and walking.

Many patients may face problems if their dystonia worsens and a contracture develops. PT can
provide patient education on positioning and stretching to prevent progression of the contracture,
in addition to serial casting to reverse an acute contracture.

Physical therapy can be a useful tool in improving balance and coordination through the use of
therapeutic activities and exercise, as well as maintaining range of motion.

Patients who suffer from liver disease due to the effects of Wilson's disease may experience
fatigue, muscle and joint pain, and a decrease in functional status. Physical therapy can play a
role in decreasing pain and improving the patient's functional capabilities with energy
conservation in mind.

While physical therapy plays a crucial role in helping these individuals overcome their
neurological symptoms, success with therapy is not possible unless the patient is consistently
sticking to their medication regime.