atresia syndrome



OVERVIEW

Definition

After conscious motor commands are transmitted from the brain, most of them have to pass through a structure in the brain called the pontine brain, making the pontine brain an important structure for the downward transmission of human motor functions.

Atresia syndrome occurs when the bases of the pontine brains are damaged bilaterally for various reasons. It is as if the human being has been closed and locked up all of a sudden, losing most of his or her motor abilities.

The patient is conscious, but the limbs are paralyzed, unable to move the limbs or the head, and the vast majority of the muscles of the face are also paralyzed, unable to open the mouth, unable to speak, unable to swallow, with no facial expression, and unable to rotate the eyes horizontally from side to side, and can only communicate with the outside world by blinking and moving the eyes up and down [1].

Pathogenesis

The disease is an acute motor dysfunction of various different etiologies and there are no clear incidence statistics.

Atresia syndrome due to cerebrovascular disease has a higher incidence in middle-aged and elderly people.

In cases of atresia syndrome due to pontine central myelinolysis, it is more common in patients who have consumed large amounts of alcohol over a long period of time, after liver transplantation, gastrointestinal surgery, and anorexia nervosa [2].

Etiology

Causes

Atresia syndrome is due to bilateral damage to the pontine brain, and common etiologic factors include:

Cerebrovascular disease: thrombotic or embolic disease of the vertebrobasilar artery system leading to pontine infarction or pontine hemorrhage.

Trauma: bilateral pontine brain damage due to craniocerebral trauma.

Intracranial tumors: bilateral pontine brain damage due to tumors in the pontine region.

Intracranial infections: infections and abscesses in or near the pontine brain [3].

Demyelinating diseases: e.g., central pontine myelinolysis due to low sodium, severe malnutrition, and alcoholism [4].

Other causes: e.g. cocaine poisoning, snake venom poisoning [5].

Symptoms.

Symptoms in patients with atresia syndrome are characterized by quadriplegia, paralysis of facial muscles, and impaired eye movement but clear consciousness.

Main symptoms

Quadriplegia

Because the nerve commands that govern the movement of the limbs are not transmitted down through the pontine brain to the muscles of the limbs, the patient experiences quadriplegia and is completely immobilized.

Paralysis of facial muscles

The nerve instructions for facial expression cannot be transmitted to the facial muscles via the pontine brain, so the patient has no facial expression, such as crying, laughing, pouting, or making faces.

Eye movement disorders

The patient’s eyes cannot rotate horizontally, but can move vertically up and down and make eye opening and closing movements.

Clear consciousness

Patients basically do not have any other movements except the up and down movement of the eyeballs and the opening and closing of the eyes. It seems that the patient is comatose, but the patient is actually awake and can understand the speech of the people around him or her, only that he or she is unable to speak.

Complications

Patients with atresia syndrome can experience a variety of bed-ridden complications due to prolonged bed-riddenness. In case of acute onset, upper gastrointestinal bleeding can be caused by stress.

Lung infections

Patients with atresia syndrome are bedridden and have decreased respiratory function and sputum expectoration, which often leads to lung infections.

It often manifests as fever, cough, sputum, dyspnea and other symptoms.

Lower extremity deep vein thrombosis

Lower extremity deep vein thrombosis can occur when the activity of the limbs decreases after being bedridden.

It is characterized by swelling, pain and elevated skin temperature of the lower limbs.

The dislodgment of thrombus can often cause acute pulmonary embolism, manifested by sudden dyspnea, purple lips, or even sudden respiratory arrest, which is life-threatening.

Pressure sores

The patient may be paralyzed and lying in bed, which may cause pressure damage to the skin, i.e. pressure sores.

The manifestations are purple, red, blisters and ulcers on the pressure area.

Upper gastrointestinal bleeding

Acute atresia syndrome can lead to gastric mucosal erosion, ulceration and bleeding due to stress reaction.

The main manifestations are black stools (tarry black stools) and coffee-colored vomit.

Consultation

Department of Medicine

Emergency Department

If there are sudden symptoms such as quadriplegia, expressionless face, limited eye movement, etc., you should call 120 for an ambulance to the Emergency Department.

Neurology

This disease is caused by pontine infarction, hemorrhage, infection, demyelination and other lesions, so you can also go to the Department of Neurology in time when you have the above symptoms.

Neurosurgery

If the above symptoms are caused by craniocerebral trauma, you can also consult the neurosurgery department.

Preparation

Consultation: Registration, Preparation of Documents, Frequently Asked Questions

Tips for Consultation: Registration, Preparation of Documents, Frequently Asked Questions

Prepare relevant medical records before the consultation, including the patient’s occupation, diet, medication, lifestyle, history of intracranial infections and craniocerebral trauma.

Do not give patients anticoagulant and antiplatelet drugs before the consultation to avoid taking drugs by mistake, which may affect the treatment of the disease.

Preparation list for medical consultation

Especially need to pay attention to the time of symptom onset, special performance, etc.

Is it sudden quadriplegia? Or sudden paralysis of one side of the limbs, and then gradually develop into quadriplegia?

Is the patient unable to speak, open his/her mouth, eat, etc.?

Is the patient unable to move his/her eyes horizontally, but can move them up and down?

Is the patient able to open and close his/her eyes?

Does the patient have symptoms such as dizziness, rotating vision, nausea and vomiting before the onset of the disease?

Is there any history of cardiovascular disease such as hypertension, diabetes mellitus, hyperlipidemia, etc.?

Is there any recent history of infection such as fever?

Is there any autoimmune disease?

What is the recent eating pattern and is there any hyponatremia due to poor eating?

Is there any drug abuse?

Any venomous snake bites?

Is there a recent history of gastrointestinal surgery or liver transplantation?

Is there a history of cranial trauma?

Test results in the last 6 months to bring to the doctor’s office

Imaging tests: cranial CT, cranial MRI, head and neck vascular ultrasound or angiography.

Other tests: blood routine, urine routine, liver and kidney function, blood lipids and glucose, blood electrolytes, etc.

Medication used in the last 3 months, if there is a medicine box or package, you can bring it to the doctor

Antihypertensive drugs: felodipine extended-release tablets, metoprolol tablets, enalapril, irbesartan, etc.

Antihyperglycemic drugs: metformin, gliclazide, acarbose, various insulins, etc.

Lipid-lowering drugs: Rosuvastatin, fenofibrate, ezetimibe, etc.

Antiplatelet drugs: aspirin enteric-coated tablets, etc.

Anticoagulant drugs: warfarin, low molecular heparin, etc.

Diagnosis

Diagnosis is based on

Medical history

The patient may have a history of cardiovascular disease such as hypertension, diabetes mellitus, and hyperlipidemia.

There may be a recent history of craniocerebral trauma, fever, drug abuse, or venomous snake bite.

May have autoimmune disease, hyponatremia, undergone gastrointestinal surgery, liver transplantation.

Symptoms.

Sudden quadriplegia or paralysis of one limb, which then quickly progresses to quadriplegia.

Paralysis of facial muscles, inability to make movements such as crying, laughing, smacking the lips, opening the mouth and making faces.

Swallowing dysfunction, can not swallow even when others feed water.

Can do open and close eyes, eyeballs can move up and down, but not horizontally.

He is conscious and can communicate with others through up and down movement of the eyeballs or opening and closing of the eyes.

Physical examination

The doctor examines the patient’s consciousness, eye movement, facial muscle movement, limb motor function, and signs of pathology.

The doctor may call or tap the patient to check the patient’s state of consciousness and to see if the patient is unconscious.

The doctor may ask the patient to open and close his or her eyes or move the eyeballs up and down to see if the corresponding muscles are paralyzed, and to see if the patient can understand what others are saying.

The doctor may ask the patient to move the eyeballs horizontally from side to side or to move the facial muscles, such as opening the mouth and puffing out the cheeks, to find out if the corresponding muscles are paralyzed.

The doctor may stimulate the muscles of the limbs with mild pain to determine if the limbs are paralyzed and the severity and extent of the paralysis.

The doctor may gently scratch the soles of the patient’s feet with a blunt bamboo skewer or other similar blunt object to clarify the presence or absence of pathological signs.

Screening Tests

These include routine blood tests, urine tests, liver and kidney functions, blood glucose and lipids, and blood electrolytes.

The purpose is to find out whether there is diabetes, hyperlipidemia, and blood potassium, sodium and chloride, etc., and also to assess the health status of the patient’s organs.

Cranial CT or cranial MRI can show the presence of hemorrhage, infarction, demyelination, tumor, abscess and other lesions in the pontine brain.

Precautions:

If there is a suspicion of intracranial infection leading to atresia syndrome, it is possible that a lumbar puncture may be necessary to retain a specimen of cerebrospinal fluid for laboratory tests to clarify intracranial infection or inflammation.

Lumbar puncture is minimally invasive and requires signed informed consent prior to the procedure.

Differential diagnosis

Atresia syndrome is primarily differentiated from inactive muteness, comatose state, and malingering.

Akinetic mutism

Similarities: Both present with quadriplegia, immobility and inability to speak.

Differences: Inactive mutism is a special type of consciousness disorder, in which the patient can open his eyes, gaze at objects and people around him, and appears to be awake but is actually in a comatose state, which is often referred to as eyes-open coma.

Coma

Similarities: both manifested as bedridden, no voluntary movement of limbs, unable to speak, unable to eat.

Differences: coma patients have a complete loss of consciousness, a variety of strong stimuli still can not make the patient wake up, no purposeful voluntary activities, can not open their eyes spontaneously.

Stalemate

Similarity: both manifested as bedridden, inactivity, no food or drink.

Differences: the stiffness lacks response to external stimuli, mostly accompanied by wax-like flexion, and when verbal stimulation touches the pain points, there can be tears, heart rate increase and other emotional reactions, and after relief, the patient can recall the onset of the process clearly. It is mostly seen in schizophrenia, severe depression and reactive mental disorder.

Treatment

Treatment objective: to promote the recovery of patients’ motor function as much as possible, reduce various complications, reduce mortality, increase the survival rate of patients, and improve the quality of life.

Treatment principle: According to different types of diseases and complications, medication and symptomatic treatment are adopted.

Supportive treatment

Mainly vital signs monitoring, respiratory and urinary management. In addition to avoid and deal with complications such as upper gastrointestinal bleeding, pressure ulcers, blood clots and so on.

Moderately elevate the head of the bed, keep quiet, avoid emotional stimulation, closely observe the state of consciousness, pupil size, heart rate, respiration and blood pressure changes.

When urinary obstruction occurs, the catheter should be retained, and the drainage tube should be released once every 4 to 6 hours. When the bladder function gradually recovered, the residual urine volume is less than 100ml when no longer catheterized.

Oxygen intake, keep the airway open, sputum suction on time, artificial assisted respiration and tracheotomy if necessary.

Patients with stress ulcers and gastrointestinal bleeding should suspend food and water intake, and nutritional support should be provided through intravenous route.

Keep the skin clean, turn over regularly, and use air cushion or soft cushion on the pressure-prone parts to prevent pressure sores.

Use intermittent pneumatic compression device to prevent lower extremity deep vein thrombosis.

Medication

Patients with atresia syndrome are mainly treated with medications for various primary causes. Commonly used medications include thrombolysis, antiplatelet therapy, anti-infective therapy, immunomodulatory therapy, drugs to inhibit gastric acid secretion, anticoagulation therapy, nutritional support therapy and B vitamin supplementation.

Thrombolytic and antiplatelet therapy

Therapeutic purpose: to treat atresia syndrome caused by bridge cerebral infarction [6].

Commonly used drugs: alteplase, aspirin enteric-coated tablets, clopidogrel and so on.

Anti-infection treatment

Therapeutic purposes: intracranial bacterial infections and abscess formation near the pontine site can be treated with anti-infective therapy when they lead to atresia syndrome, and anti-infective therapy is also needed when systemic infections are concomitant.

Commonly used drugs: ceftriaxone sodium, cefoperazone sulbactam, levofloxacin, etc.

Immunomodulation therapy

Therapeutic purpose: to treat atresia syndrome due to pontine central myelinolysis of various causes [7].

Commonly used drugs: methylprednisolone, immunoglobulin, etc.

Drugs to inhibit gastric acid secretion

Therapeutic purpose: Acid suppression therapy is needed in the presence of stress ulcers and upper gastrointestinal bleeding.

Commonly used drugs: omeprazole, pantoprazole, etc.

Anticoagulation

Therapeutic purpose: prevention and treatment of deep vein thrombosis of the lower limbs.

Commonly used drugs: low molecular heparin calcium, warfarin and so on.

Nutritional supportive therapy and supplementation of B vitamins

Therapeutic purpose: patients can not eat, so it is necessary to give enteral and parenteral nutritional support therapy, and at the same time to supplement B vitamins.

Commonly used drugs: enteral nutrients, fat milk, amino acids, sodium chloride, glucose injection, vitamin B12, vitamin B1 and so on.

Rehabilitation

Rehabilitation therapy can assist patients in functional recovery, avoid or reduce complications, and should be actively carried out after the condition is stabilized. The main types of rehabilitation include limb motor function and voice and swallowing function rehabilitation.

Rehabilitation of limb motor function

Early good limb position placement and appropriate joint mobility training can reduce complications.

Progressive resistance training for the corresponding muscles, interactive flexion and extension muscle strengthening training can improve the function of stroke paralyzed limbs.

Functional electrical stimulation therapy and electromyographic biofeedback therapy for the corresponding muscles, combined with conventional rehabilitation therapy, can improve the muscle strength and function of the paralyzed limb.

Rehabilitation of dysarthria

Biofeedback and loudspeakers are used to improve speech and change its intensity, and palatal rests are used to compensate for palatopharyngeal insufficiency.

Use of methods such as reduced speech rate, forceful articulation, and sign language.

Rehabilitation of swallowing disorders

The application of orbicularis oris muscle training, tongue movement training, training to enhance the ability of the swallowing reflex, pharyngeal movement training, empty swallowing training, ice stimulation, and neuromuscular electrical stimulation is recommended for patients with dysphagia.

Patients with stroke who cannot maintain adequate nutrition and hydration by mouth should start enteral nutrition as early as possible.

Prognosis

Cure

Approximately 87% of patients with atresia syndrome die within the first 4 months of the onset of the disease, and among those who are still alive at 1 year after the onset of the disease, the 5-year survival rate is approximately 86% [8].

The mortality rate of atresia syndrome due to pontine infarction ranges from 60% to 77% [9].

Prognostic factors

The prognosis of the disease depends on the various primary factors leading to atresia syndrome, the presence of complications, and the age of onset.

In atresia syndrome due to cerebrovascular disease, the prognosis is better in younger than in older patients.

The prognosis is poor in patients who develop respiratory distress within a short period of time after the onset of the disease, requiring tracheotomy and ventilator-assisted respiration.

Hazards

During the acute phase of atresia syndrome, patients often develop a variety of complications that result in a high mortality rate.

Most patients who survive atresia syndrome are unable to take care of themselves, increasing the burden on families and society.

Daily

Daily management

Dietary management

Patients lose swallowing function and cannot eat by themselves, and need to be fed fluids nasally via nasogastric tube or nasoenteric tube.

Family members should provide the patient with nutritious fluids under the guidance of clinical dietitians, supplemented with enteral nutrients prepared by manufacturers or hospitals if available.

Life management

For patients who are bedridden for a long period of time, they should do a good job of turning and patting their backs, cleaning, etc., to avoid lung infections, urinary tract infections and bedsores.

Some patients can recover part of the motor function, but there is still limb weakness, activity is inconvenient, need to strengthen the protective measures to prevent falls to head and limbs trauma, fracture injury.

Patients with urinary incontinence can use urinary catheters or diapers, change frequently, and keep the perineum clean and dry.

Psychological support

Patients with quadriplegia, unable to speak, seemingly comatose, but actually awake, so special attention needs to be paid to the implementation and follow-up of psychological care [10].

Family members and medical staff should pay attention to the wording when explaining and discussing the condition, handover, etc., because the patient is not in a coma and can understand the content of the conversation of the people around him.

Family members should cooperate with doctors to guide patients to correctly understand the disease, accept the disease, and establish confidence in the treatment of the disease.

Disease monitoring

Vital signs such as temperature, respiration, pulse, blood pressure and oxygen saturation need to be monitored during treatment.

Regular laboratory tests of blood electrolytes, blood routine, urine routine, blood glucose, liver and kidney function are required to understand the overall status of the patient.

The patient’s skin condition should be monitored to prevent bedsores from occurring.

Prevention

Normally, blood glucose, blood lipid and blood pressure should be controlled to prevent atresia syndrome due to cerebrovascular disease.

Correction of hyponatremia should not be too fast to prevent atresia syndrome due to pontine central myelinolysis.