Rare Disease Day takes place on the last day of February each year. In 2017, EURORDIS, the charity behind this awareness campaign, is highlighting the importance of research into rare diseases, which can lead to the identification of previously unknown conditions, assist doctors in providing a correct diagnosis and more accurate information to patients about their disease, lead to the development of new innovative treatments and in some cases result in a cure.
Currently, within the European Union, as many as 30 million people may be affected by one of over 6000 existing rare diseases. One such rare but serious condition is Cauda Equina Syndrome (CES). The incidence rate of CES is variable and is dependent on aetiology. It is thought to be between 1 in 33,000 and 1 in 100,000.
CES describes extreme pressure and swelling of the nerves at the base of the spinal cord. Such compression is most commonly caused by a prolapsed or protruding disc but can be due to bleeding or damage caused during surgery. The Cauda Equina consists of about 10 pairs of nerve roots, some of which combine to form larger nerves in the lower body, including the sciatic nerve. The Cauda Equina is responsible for sensory and motor innervation to the pelvis and lower limbs, as well as bowel and bladder function. If the Cauda Equina is damaged by inflammation or compression in the low back, symptoms may develop and progress quickly and the longer the period of compression, the greater the chance of permanent nerve damage. Early diagnosis and treatment are crucial for making as full a recovery as possible.
Cauda Equina Syndrome is a medical emergency that calls for urgent surgical intervention. If patients with Cauda Equina Syndrome do not receive treatment quickly, the implications can be very severe, with complications including paralysis, impaired bladder, and/or bowel control, difficulty walking, and other neurological and physical problems. For more information on the symptoms of Cauda Equina Syndrome and how it is diagnosed and treated, please click here.
It is widely recognised that an MRI scan plays a crucial role in the diagnosis of CES, but often scans are delayed either because of limited access to scanning facilities locally, or due to the time that a patient may present to the hospital. Once CES is diagnosed, or if there is reasonable suspicion of the condition, then a referral to a specialist neurosurgeon should be made for further investigation and treatment.
The importance of prompt and early MRI scanning is reinforced by research by Nicholas Todd. Mr Todd is a specialist neurosurgeon with significant expertise in treating CES patients, and in acting as an expert in medico-legal cases involving delayed diagnosis and treatment of CES. Within his article, Mr Todd confirms that the only reliable way of confirming or ruling out a suspicion of CES is to perform an MRI scan. If the diagnosis is being considered, a scan should ideally be performed locally within one hour of it being raised as a possibility.
Once diagnosed, CES can be subdivided by the degree of neurological deficit, namely, bilateral radiculopathy, incomplete CES (known as ‘CESI’) or CES with retention of urine (known as ‘CESR’). Mr Todd’s article highlights that there is increasing understanding that damage to the Cauda Equina nerve roots occurs in a continuous and progressive fashion which implies that there are no safe time or deficit thresholds. It is emphasised that neurological deterioration can occur rapidly and is often associated with long-term poor outcomes. If CES is allowed to progress into CESR, which is at the very advanced stages of the condition, then patients can be left with irreversible permanent symptoms.
A research study compiled by Srikandarajah, Boissaud-Cooke, Clarke and Wilby concluded that surgery within 24 hours of the onset of autonomic symptoms in CESI reduces the risk of bladder dysfunction. Some of the patients in the study were found to have full ‘normal bladder function’ at follow-up.
Naomi Holland, an associate in the clinical negligence team at Penningtons Manches LLP, comments: “We wholly support raising awareness of rare diseases, as sadly, due to the rarity of a particular condition, we often come across cases where there is a failure to appreciate the significance of a patient’s symptoms which can result in misdiagnosis and an adverse long term outcome. CES is a particular example where we find that health professionals often misdiagnose the condition as sciatica or back pain, despite the fact that a patient has symptoms which would not be regarded as normal. Doctors may fail to appreciate the significance of a deterioration in a patient’s back complaint and any neurological involvement.
“Even if a suspicion of CES is considered promptly, there can be delays in further investigation due to a lack of scanning facilities. We have acted for a number of clients whose scans have been delayed by sometimes as much as several days because facilities are not available at the local hospital. In such situations, it is not acceptable to turn a patient away, but instead, urgent enquiries should be made about MRI access at other hospitals.”
If you or a family member have concerns about the management of Cauda Equina Syndrome, Penningtons Manches’ specialist team may be able to assist.