Condition AZ: e

There are a number of features found in people with Evans’ syndrome, which are caused by the destruction of red blood cells, white blood cells and platelets. As red blood cells carry oxygen in the blood, low levels may cause:

• pallor (paleness), fatigue (tiredness) and light-headedness.

With low platelets, those with Evans’ syndrome may have:

• purpura (patches of purplish discoloration resulting from leaking of blood into the skin)
• petechiae (tiny localised haemorrhages from the small blood vessels just beneath the surface of the skin)
• ecchymoses (bruises)

A reduction in white blood cells may cause an increased likelihood of infections.

The cause of Evans’ syndrome has not been identified but it is known that some people diagnosed with the syndrome have associated disorders such as systemic lupus erythematosus (see entry Lupus), and other autoimmune disorders.

Diagnosis of the syndrome is made after other possible conditions are ruled out. These include rheumatological conditions (where the immune system is overactive and attacks the joints), malignancies (a tumour that spreads) that first present with autoimmune cytopenias (deficiency of some specific cellular elements of the blood) and infections. Blood samples will be taken to measure the levels of white blood cells, red blood cells and platelets.

Closely monitoring the patient’s full blood count (FBC; in the USA it is called the complete blood count) is crucial to the management of the condition. Treatment involves medication such as steroids or other immunosuppressives so that antibodies to red blood cells and platelets are no longer produced. Splenectomy, removal of the spleen by surgery, can have short-lasting positive effects. The spleen is the place in the body where red blood cells and platelets are broken down, so removing it helps prevent this. Intravenous immune globulin or IVIG may be used. This works by confusing the immune system which reduces the rate of red cell and platelet breakdown.

Transfusion of blood products is carried out in crisis situations to help stabilise the affected individual, but is not a long-lasting solution as these cells are usually destroyed very quickly by the antibodies the person produces.

Inheritance patterns
None.

Prenatal diagnosis
None.

There is no support group for Evan’s syndrome in the UK. Cross referrals to other medical information entries on our website are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Evan’s syndrome.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

Depending on which nerves have been mainly affected children with Erb’s Palsy are divided in four groups. As well as grouping the symptoms experienced, the grouping relates to prognosis (1 being the most favourable and 4 the worst).

Group 1 − children have paralysis of the shoulder and elbow, involving the 5th and 6th (C5 and C6) cervical nerves. This results in the arm being turned towards the body, the elbow unable to bend and the hand being in the ‘waiters tip’ position.

Group 2 − have the same presentation as group 1, but with lack of wrist extension too due to the involvement of C7 as well.

Group 3 − all the nerves are affected and therefore the child has got a complete paralysis of the upper limb.

Group 4 − the entire arm is paralysed and there is demonstrable sensory loss. Horner syndrome is present, which is characterised by drooping of the eyelid, a cheek that does not sweat and a smaller pupil on the affected side of the face. Torticollis, a twisted neck in which the head is tipped to one side while the chin is turned to the other, may also present.

Very infrequently there is Klumpke’s paralysis – which involves the 7th and 8th cervical (C7, C8) and 1st thoracic (TH1) nerves. The result is a flaccid (floppy) paralysis of the hand that is often associated with Horner syndrome.

Erb’s palsy is mainly caused by birth trauma when traction (straightening) of the head or arm, or twisting the arm or shoulder down and backward, results in paralysis of the nerves supplying the arm.

It is now possible to say that over half of children born with Erb’s palsy make a complete recovery. Of the remaining cases, another 30 to 35 per cent make very useful recovery as relates to nerve injuries. Properly conducted neurophysiological investigations are most helpful in determining the likelihood of recovery and do help in deciding which children will be likely to benefit of surgical intervention.

Urgent operations can be restricted to a relatively small number of children who have complete and severe injuries or those who have suffered major injury to the plexus from breech delivery (delivery of the baby feet first rather than head first). However, between 25 to 35 per cent of the children face difficulties due to contracture (tightening of the joint) at the shoulder leading to posterior dislocation of that joint, meaning that the bones become misaligned in the joint. The treatment of these deformities can improve the growth of the shoulder joint leading also to increased function of the affected limb.

Inheritance patterns
None.

Prenatal diagnosis
None.

Erb’s Palsy Group

Tel: 024 7641 3293
Email: info@erbspalsygroup.co.uk
Website: erbspalsygroup.co.uk

The Group is a Registered Charity in England and Wales No. 1036423. It provides information and support for families affected by Erb’s Palsy. The Group puts parents in contact with each other, gives advice on benefits and aids for children, and holds annual events for families. 

Group details last updated December 2014.

Seizures are of many types:

• tonic (stiffening)
• clonic (jerking)
• combinations of both tonic and clonic
• loss of awareness
• myoclonus (sudden jerks of the whole body or limb)
• abnormal feelings of fear, smell, taste, vision and/or feeling in a part of the body with or without impairment of consciousness, all pointing to a focal onset (specific part of the brain from which the seizure originates)
• automatic movements (such as fiddling with clothes or objects, mumbling or making chewing movements).

All types of epilepsy have a small risk of sudden unexplained death (known as sudden unexpected death in epilepsy (SUDEP)), which is difficult to anticipate but has brought about the development of epilepsy networks and guidelines for effective diagnosis, investigation and treatment.

The more severe syndromes include a number of conditions that may be difficult to treat and which cause severe regression (loss of acquired skills) relating to learning, social functioning and behaviour.

Thus, learning impairments (see entry Learning Disability), autism spectrum conditions (see entry Autism Spectrum conditions), attention deficit hyperactivity disorder and other behavioural disorders are very common in children with intractable seizures (seizures that are difficult to control).

The regression in development, which is particularly caused by early-onset epilepsy is known as an epileptic encephalopathy. This is particularly related to sub-clinical epileptic activity (activity that is not obvious) rather than the rate of obvious seizures.

Epilepsy in childhood has a wide range of causes, including a large number of specific syndromes, many of which have a genetic basis. Many illnesses involving the brain, including infection, trauma and metabolic abnormalities can cause epilepsy.

Epileptic seizures are, therefore, a symptom of very many conditions that involve the brain and these often require investigation in their own right by a paediatrician/paediatric neurologist.

Specific syndromes such as Sturge-Weber syndrome and tuberous sclerosis complex may give rise to epilepsy.

Many children with epilepsy don’t fit into one syndrome and management is along the lines of the closest epilepsy type. Children with epilepsy may be offered an anti-epilepsy drug (AED), which can prevent seizures in some cases. Examples of AEDs commonly used in children include sodium valproate, carbamazepine, lamotrigine and levetiracetam. Doctors need to choose AEDs carefully as they may be effective in only one type or a few types of epilepsy (narrow spectrum), whilst others treat a much wider range of epilepsies (broad spectrum). Guidelines on the use of AEDs are available from the National Institute of Clinical Excellence (NICE). Although 60 to 70 per cent of seizures stop with the first one of two AEDS used, if two AEDs fail to control a child’s seizures then chance of freedom from seizures is small. Sometimes, drug treatments are not those normally used in epilepsy, for example corticosteroids are used to treat types of epilepsy such as West syndrome and Landau-Kleffner syndrome.

Surgery is being increasingly used as early as possible for those with a clearly identifiable and removable source of the seizures in the brain in order to minimise secondary impairments. Surgery is only possible in a small minority.

The additional impairments associated with epilepsy in childhood require diagnosis and treatment in their own right. They are often much more disabling than the seizures and have educational implications. In a recent study, about half of the children with epilepsy in childhood had problems with either behaviour, educational progress or both. Most children with epilepsy (about 75 per cent) become seizure free on AEDs, but in the rest the above problems are common.

Inheritance patterns
The genetics of epilepsy are a mixture of specific genetic and non-genetic conditions and those without such clear diagnosis in which a small increased susceptibility for siblings is seen.

Prenatal diagnosis
This is only available for a limited number of genetically determined conditions.

Epilepsy Action

Helpline: 0808 800 5050
Email: helpline@epilepsy.org.uk
Website: epilepsy.org.uk

The Organisation is a Registered Charity in England and Wales No. 234343. It offers information and support to anyone affected by epilepsy. The Organisation has a network of groups across the UK.

Group details last reviewed December 2022.

Epilepsy Scotland

Helpline: 0808 800 2200
Email: contact@epilepsyscotland.org.uk
Website: epilepsyscotland.org.uk

The Organisation is a Registered Charity in Scotland No. SC 000067. It provides information and support to people of all ages who are affected by epilepsy. The Organisation has specific support services for children and families including support groups, youth workshops and social work assessments.

Group details last updated December 2022.

Epilepsy Society

Helpline: 01494 601 400
Email: helpline@epilepsysociety.org.uk
Website: epilepsysociety.org.uk

The Society is a Registered Charity in England and Wales No. 206186. It provides information and support to anyone in the UK who is affected by epilepsy.  

Group details last updated December 2022.

Epilepsy Wales

Helpline: 0800 228 9016
Email: info@epilepsy.Wales
Website: epilepsy.wales

Epilepsy Wales is a Registered Charity in England and Wales No. 1059067, established in 1996. It aims to help people with epilepsy in Wales; their families and carers by offering a bi-lingual service wherever possible; support groups and field workers throughout Wales.

Group details last updated December 2022.

Young Epilepsy

Helpline: 01342 831 342
Email: helpline@youngepilepsy.org.uk
Website: youngepilepsy.org.uk

The Organisation is a Registered Charity in England & Wales No. 311877. It provides information and support for young people aged 5-25 with epilepsy, autism and other neurological conditions, and their parents. The Organisation offers specialist services including a school, college and residential services.

Group details last reviewed December 2022.

Symptoms within each category can vary from relatively minor symptoms to, in the most severe forms, death in infancy.

In EBS, blistering occurs in top layer of skin, the epidermis. There are many subtypes of EBS. In the most common form, EBS localised, blistering occurs predominantly on the feet and hands and is worse in hot weather. In more severe forms, such as EBS Dowling-Meara, blistering is more widespread and severe.

Dystrophic EB is a group of disorders where blisters occur deeper, beneath the epidermis. Since the blisters are deeper, they tend to heal with scarring. Milder forms may give rise to blistering limited in extent, particularly around fingers and toes, ankles and knees, and may affect finger or toenails. The severe forms lead to more generalised blistering, which can lead to areas of chronic ulceration and scarring with resultant deformity of hands, feet and large joints.

The Herlitz form (junctional EB) is particularly severe, giving rise to chronic wounds, nail loss, failure to gain weight, difficulty in breathing and, in the vast majority of cases, death in the first year or two of life. In less severe forms of junctional EB, skin fragility is accompanied by dental enamel defects, nail abnormality and loss, and sometimes sparse hair.

EB is a genetic condition where a mutation in certain genes causes absent or low levels of proteins in the skin and mucous membrane causing fragility. Fourteen responsible genes for the major forms of EB have now been identified.

Obtaining accurate diagnosis of the type of EB is very important to provide information for individuals, families and clinicians on likely symptoms and problems that may occur, and to be able to offer genetic counselling on the risks of EB occurring again within the family. In babies with EB without a parent or previous child having been affected, a small skin sample is usually taken. Specialised tests, electron microscopy and immunofluorescence, are done to determine the level of blistering in the skin and to identify any reduction or absence of proteins giving rise to the EB. Blood samples are also taken from the baby and parents to look for the mutation in the genes that cause EB. In older children with milder categories of EB it is sometimes possible to make the diagnosis clinically, with or without a blood test to confirm mutations.

Treatment involves popping the blisters when they occur with sterile needles and the use of specialised dressings to cover raw areas. Prevention or reduction of blister formation in milder types, such as EBS localised, is focused on keeping feet cool, well-fitted ventilated shoes and painkillers. For the more severe types, skin involvement can be extensive requiring many hours a day popping blisters and dressing large raw areas. Often, in severe types of EB, other complications such as difficulty swallowing, sore eyes and dental decay are present and these are managed and treated as they occur.

Inheritance patterns
EB is a genetic disease. In some cases the inheritance is autosomal dominant but can occur less commonly in a sporadic manner. Other forms of EB, often the more severe forms, are autosomal recessively inherited.

Prenatal diagnosis
For severe forms of EB where the mutation in a previous child has been detected, prenatal diagnosis is possible from around ten weeks of pregnancy by chorionic villous sampling in around 80 per cent of cases. When the mutations are not detected in severe types of EB, it may be possible to have prenatal diagnosis later in the pregnancy with a fetal skin biopsy around 16 to 18 weeks of pregnancy. Preimplanation genetic diagnosis is also now possible for some of the most severe types of EB.

DEBRA

Tel: 01344 771 961
Email: debra@debra.org.uk
Website: debra.org.uk

DEBRA is a Registered Charity in England and Wales No. 1084958. It offers information and support to individuals and families affected by Epidermolysis Bullosa (EB) in the UK.  DEBRA provides practical and emotional support, financial help and advice, respite breaks, and information on living with EB. 

Group details last updated January 2016.

Encephalitis Society

Helpline: 01653 699 599
Email: via website
Website: encephalitis.info

The Society is a Registered Charity in England and Wales No. 1087843. It provides information and support to children and adults affected by encephalitis, and their families. The Society produces a range of information resources, including Encephalitis in Children which can be downloaded from the website.

Group details last reviewed March 2024

Symptoms of EvC include:

• short arms and legs causing disproportionate short stature
• short ribs resulting in a narrow chest
• heart defects, most commonly an atrial or an atrioventricular septal defect (ASD)
• polydactyly (extra fingers and/or toes)
• small finger and toe nails
• small or absent teeth
• abnormal knee joints causing knock knees in older children and adults.

Not all of these features are present in everyone with EvC. Most people with EvC have normal intelligence.

Mutations in the EVC and EVC2 genes cause EvC. The exact function of these genes is becoming clearer. How they cause dwarfism and other symptoms of the condition is beginning to be understood. Most people with EvC syndrome have mutations in both copies of the EVC or EVC2 gene in each cell, some affected people have only one mutated copy of the gene in each cell. Scientists believe that unidentified mutations in the EVC or EVC2 gene, or mutations in other genes, may be associated with EvC syndrome in these cases.

The diagnosis is normally made based on the features that a person has and the appearance of the bones on X-ray. Molecular testing of DNA for mutations in the EVC and EVC2 genes can confirm a diagnosis.

There is no cure for the condition. Treatment is designed to alleviate symptoms of the condition. Common problems that occur in adolescents and young adults and include knee pain due to the knock knee deformity, sometimes requiring an operation to correct it. Dentist or orthodontist may need to deal with small or missing teeth. Some children have very small chests, which can cause severe breathing problems in the first few months of life but this is unusual.

Approximately half of children with EvC have a heart defect. In most cases, this can be repaired by surgery. If these problems are treated successfully most children with EvC have a normal life expectancy. Supports and aids to deal with restricted growth will help with daily living tasks.

Inheritance patterns
EvC is inherited in an autosomal recessive manner. Although most people with EvC have mutations in both copies of the EVC or EVC2 gene in each cell, some affected people have only one mutated copy of the gene in each cell.

Prenatal diagnosis
Short limbs, extra fingers and a heart defect may be visible on an ultrasound scan. If the mutations in a family are known it may be possible to perform prenatal testing by chorionic villus biopsy at 12 weeks or amniocentesis at 16 weeks. This is becoming more easily available as testing for mutations in the EVC genes is now available in an NHS genetic laboratory.

Ellis-Van Creveld Foundation

Tel: 01621 829 675

The Foundation is a small self help group that offers support, information and advice to the families of affected children. It raises awareness of the condition through contact with professionals and compiles data on affected children to support research. The Foundation is in touch with a number of families in the UK.

Group details last updated August 2014.

Ehlers-Danlos Support UK

Helpline: 0800 907 8518
Email: helpline@ehlers-danlos.org
Website: ehlers-danlos.org

The Organisation is a Registered Charity in England and Wales No. 1157027. It provides information and support for anyone affected by Ehlers-Danlos Syndrome, and runs regular events and conferences.

Group details last reviewed March 2024.